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.151C>T (p.Gln51Ter)	ATM	Pathogenic	11	108098581	108098581	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA198174
Deletion	NM_000051.4(ATM):c.478_482del (p.Ser160fs)	ATM	Pathogenic/Likely pathogenic	11	108106542	108106546	TATCTC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA192140
single nucleotide variant	NM_000051.4(ATM):c.513C>G (p.Tyr171Ter)	ATM	Pathogenic/Likely pathogenic	11	108114696	108114696	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA190051
single nucleotide variant	NM_000051.4(ATM):c.901+1G>A	ATM	Pathogenic	11	108115754	108115754	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA195792
single nucleotide variant	NM_000051.4(ATM):c.1065+1G>T	ATM	Pathogenic/Likely pathogenic	11	108117855	108117855	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA194915
Deletion	NM_000051.4(ATM):c.1249del (p.Thr417fs)	ATM	Pathogenic/Likely pathogenic	11	108121440	108121440	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA195638
single nucleotide variant	NM_000051.4(ATM):c.1424C>G (p.Ser475Ter)	ATM	Pathogenic	11	108121616	108121616	C	G	criteria provided, single submitter	ClinGen:CA197002
single nucleotide variant	NM_000051.4(ATM):c.1737G>A (p.Trp579Ter)	ATM	Pathogenic	11	108122693	108122693	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA190035
Duplication	NM_000051.4(ATM):c.1880dup (p.Gln628fs)	ATM	Pathogenic	11	108123615	108123616	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA193014
single nucleotide variant	NM_000051.4(ATM):c.2098C>T (p.Gln700Ter)	ATM	Pathogenic/Likely pathogenic	11	108124740	108124740	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA194043