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.6198+1G>A	ATM	Pathogenic/Likely pathogenic	11	108186841	108186841	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA6265875
single nucleotide variant	NM_000051.4(ATM):c.3747-1G>A	ATM	Likely pathogenic	11	108154953	108154953	G	A	criteria provided, single submitter	ClinGen:CA16044129
single nucleotide variant	NM_000051.4(ATM):c.4735C>T (p.Gln1579Ter)	ATM	Pathogenic/Likely pathogenic	11	108164163	108164163	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA353545
single nucleotide variant	NM_000051.4(ATM):c.5762+1G>T	ATM	Pathogenic/Likely pathogenic	11	108178712	108178712	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA353503
single nucleotide variant	NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter)	CHEK2	Pathogenic/Likely pathogenic	22	29091725	29091725	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10167706
Deletion	NM_007194.4(CHEK2):c.876del (p.Phe292fs)	CHEK2	Pathogenic	22	29099525	29099525	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10167794
Deletion	NM_007194.4(CHEK2):c.372del (p.Phe125fs)	CHEK2	Pathogenic/Likely pathogenic	22	29121303	29121303	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577639
single nucleotide variant	NM_007194.4(CHEK2):c.908+1G>T	CHEK2	Likely pathogenic	22	29099492	29099492	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577641
Duplication	NM_007194.4(CHEK2):c.276dup (p.Trp93fs)	CHEK2	Pathogenic/Likely pathogenic	22	29130433	29130434	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577643
single nucleotide variant	NM_007194.4(CHEK2):c.205C>T (p.Gln69Ter)	CHEK2	Pathogenic/Likely pathogenic	22	29130505	29130505	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577648