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.9023G>A (p.Arg3008His)	ATM	Pathogenic/Likely pathogenic	11	108236087	108236087	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA165987,UniProtKB:Q13315#VAR_010894
single nucleotide variant	NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys)	ATM	Pathogenic/Likely pathogenic	11	108236086	108236086	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA294307,UniProtKB:Q13315#VAR_010893
Duplication	NM_000051.4(ATM):c.9021dup (p.Arg3008fs)	ATM	Pathogenic/Likely pathogenic	11	108236083	108236084	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579336
single nucleotide variant	NM_000051.4(ATM):c.9019G>T (p.Glu3007Ter)	ATM	Pathogenic/Likely pathogenic	11	108236083	108236083	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579335
Deletion	NM_000051.4(ATM):c.9005del (p.Phe3002fs)	ATM	Pathogenic	11	108236067	108236067	GT	G	criteria provided, single submitter	ClinGen:CA10579332
single nucleotide variant	NM_000051.4(ATM):c.8998C>T (p.Gln3000Ter)	ATM	Pathogenic/Likely pathogenic	11	108236062	108236062	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA165254
single nucleotide variant	NM_000051.4(ATM):c.8988-1G>T	ATM	Likely pathogenic	11	108236051	108236051	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.8988-1G>A	ATM	Pathogenic/Likely pathogenic	11	108236051	108236051	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA348186
single nucleotide variant	NM_000051.4(ATM):c.8988-1G>C	ATM	Pathogenic	11	108236051	108236051	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA298332
single nucleotide variant	NM_000051.4(ATM):c.8988-2A>C	ATM	Likely pathogenic	11	108236050	108236050	A	C	criteria provided, single submitter	-