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
single nucleotide variant	NM_000051.4(ATM):c.8786+1G>A	ATM	Pathogenic/Likely pathogenic	11	108224608	108224608	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274150
Deletion	NM_000051.4(ATM):c.9112del (p.Gln3038fs)	ATM	Pathogenic	11	108236176	108236176	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA287048
Deletion	NM_007194.4(CHEK2):c.1254del (p.Phe418fs)	CHEK2	Pathogenic/Likely pathogenic	22	29091703	29091703	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA288270
Deletion	NM_007194.4(CHEK2):c.1263del (p.Ser422fs)	CHEK2	Pathogenic/Likely pathogenic	22	29091227	29091227	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA288271
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
single nucleotide variant	NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)	CHEK2	Pathogenic/Likely pathogenic	22	29121326	29121326	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA288301,UniProtKB:O96017#VAR_022461
Deletion	NM_007194.4(CHEK2):c.507del (p.Phe169fs)	CHEK2	Pathogenic	22	29121050	29121050	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA288316
Duplication	NM_007194.4(CHEK2):c.524dup (p.Gly176fs)	CHEK2	Pathogenic	22	29121032	29121033	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA288317
Deletion	NM_007194.4(CHEK2):c.581del (p.Ser194fs)	CHEK2	Pathogenic	22	29120976	29120976	GC	G	criteria provided, single submitter	ClinGen:CA288321
Duplication	NM_000051.4(ATM):c.2574dup (p.Asn859Ter)	ATM	Pathogenic	11	108138002	108138003	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA157082