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
Duplication	NM_000051.4(ATM):c.8432dup (p.Ser2812fs)	ATM	Pathogenic	11	108216476	108216477	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA196792
Duplication	NM_000051.4(ATM):c.8476_8477dup (p.Asn2826fs)	ATM	Pathogenic	11	108216524	108216525	C	CAA	criteria provided, multiple submitters, no conflicts	ClinGen:CA196050
single nucleotide variant	NM_000051.4(ATM):c.8711A>G (p.Glu2904Gly)	ATM	Likely pathogenic	11	108224532	108224532	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA194327,UniProtKB:Q13315#VAR_010889
single nucleotide variant	NM_000051.4(ATM):c.8786+1G>C	ATM	Pathogenic	11	108224608	108224608	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA196631
single nucleotide variant	NM_000051.4(ATM):c.8786+1G>T	ATM	Pathogenic/Likely pathogenic	11	108224608	108224608	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA189911
Deletion	NM_000051.4(ATM):c.8835_8836del (p.Leu2946fs)	ATM	Pathogenic/Likely pathogenic	11	108225585	108225586	CTG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA193313
Deletion	NM_000051.4(ATM):c.8942del (p.His2981fs)	ATM	Pathogenic	11	108235900	108235900	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA196786
single nucleotide variant	NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter)	ATM	Pathogenic/Likely pathogenic	11	108235935	108235935	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA194505
single nucleotide variant	NM_000051.4(ATM):c.8987+1G>C	ATM	Pathogenic	11	108235946	108235946	G	C	criteria provided, single submitter	ClinGen:CA197313
single nucleotide variant	NM_000051.4(ATM):c.8988-2A>G	ATM	Pathogenic/Likely pathogenic	11	108236050	108236050	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA191650