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.1058_1059del (p.Cys353fs)	ATM	Pathogenic	11	108117846	108117847	CTG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645597675
single nucleotide variant	NM_000051.4(ATM):c.7777C>T (p.Gln2593Ter)	ATM	Pathogenic	11	108202753	108202753	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6266176
single nucleotide variant	NM_000051.4(ATM):c.1899-1G>A	ATM	Pathogenic/Likely pathogenic	11	108124540	108124540	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA382536246
single nucleotide variant	NM_000051.4(ATM):c.8152-2A>G	ATM	Pathogenic/Likely pathogenic	11	108206570	108206570	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA6266312
single nucleotide variant	NM_000051.4(ATM):c.8213T>G (p.Leu2738Ter)	ATM	Pathogenic	11	108206633	108206633	T	G	criteria provided, single submitter	ClinGen:CA6266318
Deletion	NM_000051.4(ATM):c.3609del (p.Gly1202_Tyr1203insTer)	ATM	Pathogenic	11	108153469	108153469	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683109
Deletion	NM_000051.4(ATM):c.5098del (p.Lys1701fs)	ATM	Pathogenic	11	108170531	108170531	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683123
single nucleotide variant	NM_000051.4(ATM):c.8419-1G>C	ATM	Likely pathogenic	11	108216469	108216469	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA382517704
Duplication	NM_000051.4(ATM):c.5554dup (p.Gln1852fs)	ATM	Pathogenic	11	108175457	108175458	T	TC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683125
Duplication	NM_000051.4(ATM):c.6015dup (p.Glu2007fs)	ATM	Pathogenic	11	108186557	108186558	T	TC	criteria provided, multiple submitters, no conflicts	ClinGen:CA645596405