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.1017del (p.Ile339fs)	ATM	Pathogenic	11	108117805	108117805	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA602132501
single nucleotide variant	NM_000051.4(ATM):c.1495C>T (p.Gln499Ter)	ATM	Pathogenic	11	108121687	108121687	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382534219
single nucleotide variant	NM_000051.4(ATM):c.1547T>G (p.Leu516Ter)	ATM	Pathogenic	11	108121739	108121739	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA382534329
single nucleotide variant	NM_000051.4(ATM):c.2308G>T (p.Glu770Ter)	ATM	Pathogenic	11	108128265	108128265	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382539851
single nucleotide variant	NM_000051.4(ATM):c.2467-1G>A	ATM	Likely pathogenic	11	108137897	108137897	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA382543080
Duplication	NM_000051.4(ATM):c.2524dup (p.Thr842fs)	ATM	Pathogenic	11	108137954	108137955	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656232
single nucleotide variant	NM_000051.4(ATM):c.2466+1G>A	ATM	Pathogenic/Likely pathogenic	11	108129803	108129803	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA228399971
Duplication	NM_000051.4(ATM):c.2700dup (p.Leu901fs)	ATM	Pathogenic	11	108139197	108139198	T	TG	criteria provided, single submitter	ClinGen:CA658656253
Deletion	NM_000051.4(ATM):c.2521del (p.Asp841fs)	ATM	Pathogenic	11	108137952	108137952	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16622059
single nucleotide variant	NM_000051.4(ATM):c.2654T>G (p.Leu885Ter)	ATM	Pathogenic	11	108139152	108139152	T	G	criteria provided, single submitter	ClinGen:CA382545038