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
Duplication	NM_007194.4(CHEK2):c.269dup (p.Ala91fs)	CHEK2	Pathogenic	22	29130440	29130441	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656846
Deletion	NM_007194.4(CHEK2):c.232del (p.Gln78fs)	CHEK2	Pathogenic	22	29130478	29130478	TG	T	criteria provided, single submitter	ClinGen:CA658656849
Deletion	NM_007194.4(CHEK2):c.1368del (p.Glu457fs)	CHEK2	Pathogenic	22	29091122	29091122	CT	C	criteria provided, single submitter	ClinGen:CA658656820
single nucleotide variant	NM_007194.4(CHEK2):c.1008+1G>A	CHEK2	Likely pathogenic	22	29095825	29095825	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA411099240
single nucleotide variant	NM_007194.4(CHEK2):c.908T>A (p.Leu303Ter)	CHEK2	Pathogenic	22	29099493	29099493	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA411100884
Deletion	NM_007194.4(CHEK2):c.622del (p.Asp208fs)	CHEK2	Pathogenic	22	29115444	29115444	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10167930
Deletion	NM_007194.4(CHEK2):c.597del (p.Phe199fs)	CHEK2	Pathogenic	22	29115469	29115469	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA638800827
Duplication	NM_007194.4(CHEK2):c.1522dup (p.Leu508fs)	CHEK2	Pathogenic/Likely pathogenic	22	29085142	29085143	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656811
single nucleotide variant	NM_007194.4(CHEK2):c.909-2A>G	CHEK2	Likely pathogenic	22	29095927	29095927	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA411100226
single nucleotide variant	NM_000051.4(ATM):c.331+1G>A	ATM	Pathogenic/Likely pathogenic	11	108100051	108100051	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA382521837