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.1512del (p.Phe505fs)	ATM	Pathogenic	11	108121704	108121704	AC	A	criteria provided, single submitter	ClinGen:CA658656151
Deletion	NM_000051.4(ATM):c.5185del (p.Val1729fs)	ATM	Pathogenic	11	108172382	108172382	AG	A	criteria provided, single submitter	ClinGen:CA658656241
Deletion	NM_000051.4(ATM):c.454del (p.Ser151_Val152insTer)	ATM	Pathogenic	11	108106519	108106519	TG	T	criteria provided, single submitter	ClinGen:CA658656158
Duplication	NM_000051.4(ATM):c.1978dup (p.Met660fs)	ATM	Pathogenic	11	108124619	108124620	G	GA	criteria provided, single submitter	ClinGen:CA658656183
single nucleotide variant	NM_000051.4(ATM):c.2050C>T (p.Gln684Ter)	ATM	Pathogenic	11	108124692	108124692	C	T	criteria provided, single submitter	ClinGen:CA382537449
Deletion	NM_000051.4(ATM):c.5594_5595del (p.His1865fs)	ATM	Pathogenic	11	108175499	108175500	CAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656260
single nucleotide variant	NM_000051.4(ATM):c.2250+2T>C	ATM	Pathogenic/Likely pathogenic	11	108127069	108127069	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA382539329
single nucleotide variant	NM_000051.4(ATM):c.5763-2A>G	ATM	Likely pathogenic	11	108180885	108180885	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA382548271
Deletion	NM_000051.4(ATM):c.708del (p.Thr237fs)	ATM	Pathogenic	11	108115559	108115559	CT	C	criteria provided, single submitter	ClinGen:CA658656180
Deletion	NM_000051.4(ATM):c.855del (p.Gln286fs)	ATM	Pathogenic	11	108115707	108115707	TG	T	criteria provided, single submitter	ClinGen:CA658656191