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
Indel	NM_000051.4(ATM):c.5631_5635delinsA (p.Phe1877fs)	ATM	Pathogenic/Likely pathogenic	11	108175536	108175540	CTCGC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579189
single nucleotide variant	NM_000051.4(ATM):c.5763-2A>C	ATM	Pathogenic	11	108180885	108180885	A	C	criteria provided, single submitter	ClinGen:CA10579195
single nucleotide variant	NM_000051.4(ATM):c.5798G>A (p.Trp1933Ter)	ATM	Pathogenic/Likely pathogenic	11	108180922	108180922	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579198
single nucleotide variant	NM_000051.4(ATM):c.5919-2A>G	ATM	Likely pathogenic	11	108183136	108183136	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA6265805
Deletion	NM_000051.4(ATM):c.5979_5983del (p.Ser1993fs)	ATM	Pathogenic	11	108183194	108183198	AAAAGT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA6265811
single nucleotide variant	NM_000051.4(ATM):c.6082C>T (p.Gln2028Ter)	ATM	Pathogenic	11	108186625	108186625	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579207
single nucleotide variant	NM_000051.4(ATM):c.6397C>T (p.Gln2133Ter)	ATM	Pathogenic	11	108190730	108190730	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579222
Deletion	NM_000051.4(ATM):c.6657del (p.Gln2220fs)	ATM	Pathogenic	11	108196118	108196118	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579230
Deletion	NM_000051.4(ATM):c.6725del (p.Ser2242fs)	ATM	Pathogenic	11	108196189	108196189	TC	T	criteria provided, single submitter	ClinGen:CA10579231
Deletion	NM_000051.4(ATM):c.6850del (p.Val2284fs)	ATM	Pathogenic/Likely pathogenic	11	108196827	108196827	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579238