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.4373del (p.Gly1458fs)	ATM	Pathogenic	11	108160464	108160464	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA294117
Deletion	NM_000051.4(ATM):c.2912_2916del (p.Lys971fs)	ATM	Pathogenic	11	108141863	108141867	GAAACC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA165106
single nucleotide variant	NM_000051.4(ATM):c.7096G>T (p.Glu2366Ter)	ATM	Pathogenic/Likely pathogenic	11	108199754	108199754	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA165161
single nucleotide variant	NM_000051.4(ATM):c.8998C>T (p.Gln3000Ter)	ATM	Pathogenic/Likely pathogenic	11	108236062	108236062	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA165254
single nucleotide variant	NM_007194.4(CHEK2):c.908+1G>A	CHEK2	Likely pathogenic	22	29099492	29099492	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA165257
single nucleotide variant	NM_007194.4(CHEK2):c.216T>G (p.Tyr72Ter)	CHEK2	Pathogenic	22	29130494	29130494	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA165273
single nucleotide variant	NM_000051.4(ATM):c.5908C>T (p.Gln1970Ter)	ATM	Pathogenic	11	108181032	108181032	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA165332
Deletion	NM_000051.4(ATM):c.5893_5897del (p.Lys1965fs)	ATM	Pathogenic	11	108181014	108181018	TAAGAA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA165350
Duplication	NM_000051.4(ATM):c.5712dup (p.Ser1905fs)	ATM	Pathogenic/Likely pathogenic	11	108178655	108178656	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA273879
Deletion	NM_000051.4(ATM):c.3369del (p.Tyr1124fs)	ATM	Pathogenic	11	108150302	108150302	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA165421