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.4938del (p.Lys1646fs)	ATM	Pathogenic	11	108168040	108168040	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA165425
single nucleotide variant	NM_000051.4(ATM):c.3993+1G>A	ATM	Pathogenic/Likely pathogenic	11	108155201	108155201	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA165426
Deletion	NM_000051.4(ATM):c.1355del (p.Thr452fs)	ATM	Pathogenic/Likely pathogenic	11	108121547	108121547	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA165539
Deletion	NM_000051.4(ATM):c.2882del (p.Leu961fs)	ATM	Pathogenic	11	108141833	108141833	CT	C	criteria provided, single submitter	ClinGen:CA165659
Duplication	NM_000051.4(ATM):c.3894dup (p.Ala1299fs)	ATM	Pathogenic	11	108155097	108155098	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA165711
Deletion	NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer)	ATM	Pathogenic/Likely pathogenic	11	108106446	108106446	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA165729
single nucleotide variant	NM_007194.4(CHEK2):c.1212T>A (p.Tyr404Ter)	CHEK2	Pathogenic	22	29091745	29091745	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA165763
Deletion	NM_000051.4(ATM):c.8397del (p.Gln2800fs)	ATM	Pathogenic	11	108214075	108214075	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA165770
Duplication	NM_000051.4(ATM):c.6673dup (p.Ala2225fs)	ATM	Pathogenic	11	108196135	108196136	T	TG	criteria provided, single submitter	ClinGen:CA165921
single nucleotide variant	NM_000051.4(ATM):c.9023G>A (p.Arg3008His)	ATM	Pathogenic/Likely pathogenic	11	108236087	108236087	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA165987,UniProtKB:Q13315#VAR_010894