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.3873T>G (p.Leu1291=)	ATM	Likely pathogenic	11	108155080	108155080	T	G	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.6273del (p.Trp2091fs)	ATM	Pathogenic/Likely pathogenic	11	108188173	108188173	TG	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.496G>C (p.Glu166Gln)	ATM	Pathogenic	11	108106561	108106561	G	C	criteria provided, single submitter	-
Duplication	NM_000051.4(ATM):c.192dup (p.Gln65fs)	ATM	Pathogenic	11	108099910	108099911	T	TA	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.864del (p.Ile287_Tyr288insTer)	ATM	Pathogenic	11	108115716	108115716	AT	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.944del (p.Leu315fs)	ATM	Pathogenic	11	108117732	108117732	CT	C	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.1321C>T (p.Gln441Ter)	ATM	Pathogenic	11	108121513	108121513	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.1858del (p.Cys620fs)	ATM	Pathogenic	11	108123599	108123599	CT	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000051.4(ATM):c.2255dup (p.Met753fs)	ATM	Pathogenic	11	108128211	108128212	C	CT	criteria provided, single submitter	-
Duplication	NM_000051.4(ATM):c.4725dup (p.Ile1576fs)	ATM	Pathogenic	11	108164152	108164153	G	GT	criteria provided, single submitter	-