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.8988-2A>G	ATM	Pathogenic/Likely pathogenic	11	108236050	108236050	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA191650
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.8977C>T (p.Arg2993Ter)	ATM	Pathogenic/Likely pathogenic	11	108235935	108235935	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA194505
Deletion	NM_000051.4(ATM):c.8942del (p.His2981fs)	ATM	Pathogenic	11	108235900	108235900	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA196786
Indel	NM_000051.4(ATM):c.8918_8929delinsTGT (p.Arg2973_Glu2977delinsMetTer)	ATM	Pathogenic/Likely pathogenic	11	108235876	108235887	GGCCGGAAGATG	TGT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619269
Duplication	NM_000051.4(ATM):c.8925_8928dup (p.Glu2977delinsArgTer)	ATM	Pathogenic	11	108235882	108235883	A	AAGAT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656277
single nucleotide variant	NM_000051.4(ATM):c.8911C>T (p.Gln2971Ter)	ATM	Pathogenic/Likely pathogenic	11	108235869	108235869	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.8903T>A (p.Leu2968Ter)	ATM	Pathogenic	11	108235861	108235861	T	A	criteria provided, single submitter	ClinGen:CA382529828
single nucleotide variant	NM_000051.4(ATM):c.8880G>A (p.Trp2960Ter)	ATM	Pathogenic	11	108235838	108235838	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613231
single nucleotide variant	NM_000051.4(ATM):c.8879G>A (p.Trp2960Ter)	ATM	Pathogenic	11	108235837	108235837	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA382529659