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
Indel	NM_000051.4(ATM):c.6270delinsTT (p.Trp2091fs)	ATM	Pathogenic	11	108188171	108188171	C	TT	criteria provided, single submitter	ClinGen:CA658656207
single nucleotide variant	NM_000051.4(ATM):c.3576+1G>T	ATM	Likely pathogenic	11	108151896	108151896	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382520835
Duplication	NM_000051.4(ATM):c.7026dup (p.Asn2343fs)	ATM	Pathogenic	11	108198421	108198422	G	GC	criteria provided, single submitter	ClinGen:CA658656286
Duplication	NM_000051.4(ATM):c.6399dup (p.Ser2134fs)	ATM	Pathogenic	11	108190730	108190731	C	CA	criteria provided, single submitter	ClinGen:CA658656226
single nucleotide variant	NM_000051.4(ATM):c.2376+1G>C	ATM	Likely pathogenic	11	108128334	108128334	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA382540429
Indel	NM_000051.4(ATM):c.6797_6798delinsC (p.Lys2266fs)	ATM	Pathogenic	11	108196261	108196262	AG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656270
single nucleotide variant	NM_000051.4(ATM):c.6913C>T (p.Gln2305Ter)	ATM	Pathogenic	11	108196890	108196890	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382557041
Duplication	NM_000051.4(ATM):c.4335dup (p.Val1446fs)	ATM	Pathogenic	11	108160424	108160425	G	GT	criteria provided, single submitter	ClinGen:CA476673928
Deletion	NM_000051.4(ATM):c.2817del (p.Lys940fs)	ATM	Pathogenic	11	108139314	108139314	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656148
single nucleotide variant	NM_000051.4(ATM):c.6976-2A>G	ATM	Likely pathogenic	11	108198370	108198370	A	G	criteria provided, single submitter	ClinGen:CA382557694