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.3935dup (p.Glu1313fs)	ATM	Pathogenic/Likely pathogenic	11	108155141	108155142	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579128
single nucleotide variant	NM_000051.4(ATM):c.4236+1G>T	ATM	Likely pathogenic	11	108159831	108159831	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579139
single nucleotide variant	NM_000051.4(ATM):c.4437-1G>C	ATM	Pathogenic/Likely pathogenic	11	108163345	108163345	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA6265475
Deletion	NM_000051.4(ATM):c.4664del (p.Leu1555fs)	ATM	Pathogenic/Likely pathogenic	11	108164092	108164092	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579161
single nucleotide variant	NM_000051.4(ATM):c.4774G>T (p.Glu1592Ter)	ATM	Pathogenic	11	108164202	108164202	G	T	criteria provided, single submitter	ClinGen:CA10579165
Insertion	NM_000051.4(ATM):c.4842_4843insCT (p.Lys1615fs)	ATM	Pathogenic	11	108165719	108165720	A	ACT	criteria provided, multiple submitters, no conflicts	ClinGen:CA6265565
Deletion	NM_000051.4(ATM):c.5318del (p.Lys1773fs)	ATM	Pathogenic	11	108172510	108172510	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579176
single nucleotide variant	NM_000051.4(ATM):c.5319+1G>A	ATM	Likely pathogenic	11	108172517	108172517	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579177
single nucleotide variant	NM_000051.4(ATM):c.5497-1G>A	ATM	Pathogenic/Likely pathogenic	11	108175401	108175401	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579182
Deletion	NM_000051.4(ATM):c.5549del (p.Leu1850fs)	ATM	Pathogenic/Likely pathogenic	11	108175451	108175451	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA6265726