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.8288del (p.Arg2763fs)	ATM	Pathogenic/Likely pathogenic	11	108213968	108213968	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588510
Deletion	NM_000051.4(ATM):c.8325del (p.Ile2776fs)	ATM	Pathogenic	11	108214002	108214002	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588511
Deletion	NM_000051.4(ATM):c.8564del (p.Ser2855fs)	ATM	Likely pathogenic	11	108216615	108216615	AG	A	criteria provided, single submitter	ClinGen:CA10588512
single nucleotide variant	NM_000051.4(ATM):c.8851-2A>G	ATM	Likely pathogenic	11	108235807	108235807	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588513
single nucleotide variant	NM_007194.4(CHEK2):c.1528C>T (p.Gln510Ter)	CHEK2	Pathogenic/Likely pathogenic	22	29085137	29085137	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588716
single nucleotide variant	NM_007194.4(CHEK2):c.1461+1G>A	CHEK2	Pathogenic/Likely pathogenic	22	29090019	29090019	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588717
single nucleotide variant	NM_007194.4(CHEK2):c.1170C>A (p.Tyr390Ter)	CHEK2	Pathogenic/Likely pathogenic	22	29091787	29091787	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588718
single nucleotide variant	NM_007194.4(CHEK2):c.909-1G>T	CHEK2	Likely pathogenic	22	29095926	29095926	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588719
single nucleotide variant	NM_007194.4(CHEK2):c.902T>A (p.Leu301Ter)	CHEK2	Pathogenic/Likely pathogenic	22	29099499	29099499	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588720
Deletion	NM_007194.4(CHEK2):c.860del (p.Lys287fs)	CHEK2	Pathogenic/Likely pathogenic	22	29099541	29099541	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588721