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_007194.4(CHEK2):c.1461+1G>T	CHEK2	Likely pathogenic	22	29090019	29090019	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA411093852
single nucleotide variant	NM_007194.4(CHEK2):c.1461+1G>A	CHEK2	Pathogenic/Likely pathogenic	22	29090019	29090019	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588717
Deletion	NM_007194.4(CHEK2):c.1461+2del	CHEK2	Likely pathogenic	22	29090018	29090018	CA	C	criteria provided, single submitter	-
single nucleotide variant	NM_007194.4(CHEK2):c.1461+2T>C	CHEK2	Likely pathogenic	22	29090018	29090018	A	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000022.11:g.(?_28687891)_(28689221_?)del	CHEK2	Likely pathogenic	22	29083879	29085209	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_007194.4(CHEK2):c.1462-2A>G	CHEK2	Likely pathogenic	22	29085205	29085205	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA168786
single nucleotide variant	NM_007194.4(CHEK2):c.1462-1G>A	CHEK2	Pathogenic/Likely pathogenic	22	29085204	29085204	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16616300
single nucleotide variant	NM_007194.4(CHEK2):c.1465G>T (p.Glu489Ter)	CHEK2	Pathogenic	22	29085200	29085200	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007194.4(CHEK2):c.1482_1483del (p.Lys494fs)	CHEK2	Pathogenic	22	29085182	29085183	AAC	A	criteria provided, single submitter	ClinGen:CA658684268
single nucleotide variant	NM_007194.4(CHEK2):c.1486C>T (p.Gln496Ter)	CHEK2	Pathogenic/Likely pathogenic	22	29085179	29085179	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10167625