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.1918A>T (p.Lys640Ter)	ATM	Pathogenic/Likely pathogenic	11	108124560	108124560	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584327
single nucleotide variant	NM_000051.4(ATM):c.2662G>T (p.Glu888Ter)	ATM	Likely pathogenic	11	108139160	108139160	G	T	criteria provided, single submitter	ClinGen:CA10584333
Deletion	NM_000051.4(ATM):c.4104_4105del (p.Ser1369fs)	ATM	Pathogenic/Likely pathogenic	11	108158435	108158436	CTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584340
single nucleotide variant	NM_000051.4(ATM):c.4109+1G>T	ATM	Likely pathogenic	11	108158443	108158443	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584341
single nucleotide variant	NM_000051.4(ATM):c.5414G>A (p.Trp1805Ter)	ATM	Pathogenic/Likely pathogenic	11	108173674	108173674	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584348
Deletion	NM_000051.4(ATM):c.5416del (p.Trp1805_Ile1806insTer)	ATM	Pathogenic/Likely pathogenic	11	108173676	108173676	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584349
single nucleotide variant	NM_000051.4(ATM):c.5496+1G>A	ATM	Likely pathogenic	11	108173757	108173757	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584350
Duplication	NM_000051.4(ATM):c.5516dup (p.Thr1840fs)	ATM	Likely pathogenic	11	108175420	108175421	C	CA	criteria provided, single submitter	ClinGen:CA10584351
single nucleotide variant	NM_000051.4(ATM):c.5573G>A (p.Trp1858Ter)	ATM	Pathogenic/Likely pathogenic	11	108175478	108175478	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584352
single nucleotide variant	NM_000051.4(ATM):c.5623C>T (p.Arg1875Ter)	ATM	Pathogenic	11	108175528	108175528	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6265737