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.5309C>G (p.Ser1770Ter)	ATM	Pathogenic	11	108172506	108172506	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA115949,OMIM:607585.0025
Deletion	NM_000051.3(ATM):c.2839-579_2839-576del	ATM	Pathogenic/Likely pathogenic	11	108141210	108141213	GGTAA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA252541,OMIM:607585.0026
single nucleotide variant	NM_000051.4(ATM):c.2250G>A (p.Lys750=)	ATM	Pathogenic/Likely pathogenic	11	108127067	108127067	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA286741,OMIM:607585.0027
single nucleotide variant	NM_000051.4(ATM):c.496+5G>A	ATM	Pathogenic/Likely pathogenic	11	108106566	108106566	G	A	criteria provided, multiple submitters, no conflicts	OMIM:607585.0031,ClinGen:CA115952
single nucleotide variant	NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp)	CHEK2	Likely pathogenic	22	29121242	29121242	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA117632,UniProtKB:O96017#VAR_008554,OMIM:604373.0003
Deletion	NM_007194.4(CHEK2):c.1425del (p.Phe475fs)	CHEK2	Pathogenic	22	29090056	29090056	TA	T	criteria provided, single submitter	OMIM:604373.0004
single nucleotide variant	NM_007194.4(CHEK2):c.715G>T (p.Glu239Ter)	CHEK2	Pathogenic	22	29107974	29107974	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA117642,OMIM:604373.0010
single nucleotide variant	NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp)	ATM	Pathogenic/Likely pathogenic	11	108188101	108188101	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA130514,UniProtKB:Q13315#VAR_010840,OMIM:607585.0033
single nucleotide variant	NM_007194.4(CHEK2):c.1259+1G>C	CHEK2	Pathogenic/Likely pathogenic	22	29091697	29091697	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA230686
single nucleotide variant	NM_007194.4(CHEK2):c.444+1G>T	CHEK2	Pathogenic/Likely pathogenic	22	29121230	29121230	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA230689