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
Duplication	NM_000051.4(ATM):c.1754dup (p.Leu585fs)	ATM	Pathogenic/Likely pathogenic	11	108122708	108122709	G	GT	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000051.4(ATM):c.153dup (p.Gly52fs)	ATM	Likely pathogenic	11	108098581	108098582	C	CA	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.2125-1G>A	ATM	Likely pathogenic	11	108126941	108126941	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.1066-2A>C	ATM	Likely pathogenic	11	108119658	108119658	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.1066-1G>T	ATM	Likely pathogenic	11	108119659	108119659	G	T	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.3292del (p.Gln1098fs)	ATM	Pathogenic/Likely pathogenic	11	108150224	108150224	TC	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.3320_3323del (p.Arg1106_Leu1107insTer)	ATM	Likely pathogenic	11	108150252	108150255	GTTAC	G	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.1235+1G>A	ATM	Likely pathogenic	11	108119830	108119830	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.1236-1G>A	ATM	Pathogenic/Likely pathogenic	11	108121427	108121427	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.4436+1G>T	ATM	Likely pathogenic	11	108160529	108160529	G	T	criteria provided, single submitter	-