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.5319+1G>T	ATM	Likely pathogenic	11	108172517	108172517	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041415
Deletion	NM_000051.4(ATM):c.5320-4_5323del	ATM	Likely pathogenic	11	108173573	108173580	CTTTCTAGT	C	criteria provided, single submitter	ClinGen:CA16041416
Deletion	NM_000051.4(ATM):c.5351del (p.Asn1784fs)	ATM	Pathogenic/Likely pathogenic	11	108173608	108173608	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041417
Duplication	NM_000051.4(ATM):c.5460dup (p.Cys1821fs)	ATM	Pathogenic/Likely pathogenic	11	108173716	108173717	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041418
single nucleotide variant	NM_000051.4(ATM):c.5554C>T (p.Gln1852Ter)	ATM	Pathogenic/Likely pathogenic	11	108175459	108175459	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6265729
single nucleotide variant	NM_000051.4(ATM):c.5763-2A>T	ATM	Likely pathogenic	11	108180885	108180885	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041419
single nucleotide variant	NM_000051.4(ATM):c.6040G>T (p.Glu2014Ter)	ATM	Pathogenic/Likely pathogenic	11	108186583	108186583	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041420
single nucleotide variant	NM_000051.4(ATM):c.6095+2T>C	ATM	Likely pathogenic	11	108186640	108186640	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041421
single nucleotide variant	NM_000051.4(ATM):c.6347+1G>A	ATM	Pathogenic/Likely pathogenic	11	108188249	108188249	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041422
single nucleotide variant	NM_000051.4(ATM):c.6348-1G>A	ATM	Likely pathogenic	11	108190680	108190680	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041423