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_007194.4(CHEK2):c.823del (p.Glu275fs)	CHEK2	Pathogenic	22	29106017	29106017	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10167852
Deletion	NM_007194.4(CHEK2):c.783_784del (p.Glu263fs)	CHEK2	Pathogenic	22	29107905	29107906	CTT	C	criteria provided, single submitter	ClinGen:CA16616561
Duplication	NM_007194.4(CHEK2):c.673dup (p.Thr225fs)	CHEK2	Pathogenic	22	29115392	29115393	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16616567
single nucleotide variant	NM_007194.4(CHEK2):c.1259+1G>T	CHEK2	Likely pathogenic	22	29091697	29091697	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16616580
single nucleotide variant	NM_007194.4(CHEK2):c.1096-1G>A	CHEK2	Pathogenic/Likely pathogenic	22	29091862	29091862	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16616582
Duplication	NM_007194.4(CHEK2):c.31dup (p.Gln11fs)	CHEK2	Pathogenic/Likely pathogenic	22	29130678	29130679	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA16616600
Indel	NM_000051.4(ATM):c.561_562delinsT (p.Ala188fs)	ATM	Pathogenic	11	108114744	108114745	GG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619097
single nucleotide variant	NM_000051.4(ATM):c.902-1G>T	ATM	Pathogenic	11	108117690	108117690	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619104
single nucleotide variant	NM_000051.4(ATM):c.1208C>A (p.Ser403Ter)	ATM	Pathogenic	11	108119802	108119802	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619109
single nucleotide variant	NM_000051.4(ATM):c.1236-2A>G	ATM	Pathogenic	11	108121426	108121426	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619112