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	NC_000011.10:g.(?_108334963)_(108354880_?)del	ATM	Likely pathogenic	11	108205690	108225607	na	na	criteria provided, single submitter	-
Duplication	NM_000051.4(ATM):c.229dup (p.Ile77fs)	ATM	Pathogenic	11	108099946	108099947	G	GA	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.299T>A (p.Leu100Ter)	ATM	Pathogenic	11	108100018	108100018	T	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.978del (p.Ile326fs)	ATM	Pathogenic	11	108117767	108117767	TA	T	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.1236-2del	ATM	Likely pathogenic	11	108121426	108121426	TA	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.1898+1G>A	ATM	Pathogenic	11	108123640	108123640	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.2125-2A>C	ATM	Likely pathogenic	11	108126940	108126940	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.2620G>T (p.Glu874Ter)	ATM	Pathogenic	11	108138051	108138051	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.4052T>A (p.Leu1351Ter)	ATM	Pathogenic	11	108158385	108158385	T	A	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.4101del (p.Ser1369fs)	ATM	Pathogenic	11	108158434	108158434	AC	A	criteria provided, single submitter	-