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	NM_000051.4(ATM):c.2129del (p.Thr710fs)	ATM	Pathogenic	11	108126946	108126946	AC	A	criteria provided, single submitter	ClinGen:CA197891
single nucleotide variant	NM_000051.4(ATM):c.2426C>A (p.Ser809Ter)	ATM	Pathogenic	11	108129762	108129762	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA197946
Deletion	NM_000051.4(ATM):c.2466+1del	ATM	Pathogenic	11	108129803	108129803	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA194178
Deletion	NM_000051.4(ATM):c.2754del (p.Phe918fs)	ATM	Pathogenic	11	108139250	108139250	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA193565
single nucleotide variant	NM_000051.4(ATM):c.2789T>G (p.Leu930Ter)	ATM	Pathogenic/Likely pathogenic	11	108139287	108139287	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA196179
Indel	NM_000051.4(ATM):c.2839-3_2839delinsGATACTA	ATM	Pathogenic/Likely pathogenic	11	108141788	108141791	TAGT	GATACTA	criteria provided, multiple submitters, no conflicts	ClinGen:CA191853
single nucleotide variant	NM_000051.4(ATM):c.2849T>G (p.Leu950Arg)	ATM	Likely pathogenic	11	108141801	108141801	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA195209,UniProtKB:Q13315#VAR_010815
Deletion	NM_000051.4(ATM):c.2965del (p.Thr989fs)	ATM	Pathogenic	11	108142018	108142018	TA	T	criteria provided, single submitter	ClinGen:CA196957
single nucleotide variant	NM_000051.4(ATM):c.3137T>C (p.Leu1046Pro)	ATM	Likely pathogenic	11	108143318	108143318	T	C	reviewed by expert panel	ClinGen:CA195169,UniProtKB:Q13315#VAR_077237
single nucleotide variant	NM_000051.4(ATM):c.3349C>T (p.Gln1117Ter)	ATM	Pathogenic	11	108150282	108150282	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA191131