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_000051.4(ATM):c.7091del (p.Ala2364fs)	ATM	Pathogenic	11	108199749	108199749	GC	G	criteria provided, single submitter	ClinGen:CA10582846
single nucleotide variant	NM_000051.4(ATM):c.7563C>G (p.Tyr2521Ter)	ATM	Pathogenic	11	108202218	108202218	C	G	criteria provided, single submitter	ClinGen:CA10582854
Deletion	NM_007194.4(CHEK2):c.1188del (p.Val397fs)	CHEK2	Pathogenic/Likely pathogenic	22	29091769	29091769	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10167713
single nucleotide variant	NM_007194.4(CHEK2):c.1072C>T (p.Gln358Ter)	CHEK2	Pathogenic	22	29092912	29092912	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583903
single nucleotide variant	NM_007194.4(CHEK2):c.847-1G>A	CHEK2	Likely pathogenic	22	29099555	29099555	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583906
single nucleotide variant	NM_007194.4(CHEK2):c.683+1G>A	CHEK2	Likely pathogenic	22	29115382	29115382	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583911
single nucleotide variant	NM_007194.4(CHEK2):c.208G>T (p.Glu70Ter)	CHEK2	Pathogenic	22	29130502	29130502	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583916
Deletion	NM_000051.4(ATM):c.8del (p.Leu3fs)	ATM	Pathogenic/Likely pathogenic	11	108098359	108098359	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584313
Deletion	NM_000051.4(ATM):c.680del (p.Ser226_Ser227insTer)	ATM	Pathogenic/Likely pathogenic	11	108115532	108115532	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584316
single nucleotide variant	NM_000051.4(ATM):c.1463G>A (p.Trp488Ter)	ATM	Pathogenic	11	108121655	108121655	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584324