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.8911C>T (p.Gln2971Ter)	ATM	Pathogenic/Likely pathogenic	11	108235869	108235869	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.7629+1G>A	ATM	Pathogenic/Likely pathogenic	11	108202285	108202285	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.4909+1G>T	ATM	Pathogenic/Likely pathogenic	11	108165787	108165787	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.2250+1G>A	ATM	Pathogenic/Likely pathogenic	11	108127068	108127068	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.7708G>T (p.Glu2570Ter)	ATM	Pathogenic/Likely pathogenic	11	108202684	108202684	G	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.7141_7151del (p.Asn2381fs)	ATM	Pathogenic/Likely pathogenic	11	108199799	108199809	AAATGGAAAAAT	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001330368.2(C11orf65):c.641-6751dup	ATM	Pathogenic/Likely pathogenic	11	108186548	108186549	A	AG	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.4007del (p.Phe1336fs)	ATM	Pathogenic/Likely pathogenic	11	108158339	108158339	AT	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.3102T>G (p.Tyr1034Ter)	ATM	Pathogenic/Likely pathogenic	11	108143283	108143283	T	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000051.4(ATM):c.3024dup (p.Glu1009Ter)	ATM	Pathogenic/Likely pathogenic	11	108142079	108142080	C	CT	criteria provided, multiple submitters, no conflicts	-