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	NC_000022.10:g.(?_29105988)_(29108011_?)dup	CHEK2	Likely pathogenic	22	29105988	29108011	na	na	criteria provided, single submitter	-
Duplication	NM_007194.4(CHEK2):c.1546dup (p.Ser516fs)	CHEK2	Likely pathogenic	22	29083970	29083971	G	GA	criteria provided, single submitter	ClinGen:CA658799500
single nucleotide variant	NM_007194.4(CHEK2):c.1259+2T>C	CHEK2	Likely pathogenic	22	29091696	29091696	A	G	criteria provided, single submitter	ClinGen:CA411096471
single nucleotide variant	NM_007194.4(CHEK2):c.339C>G (p.Tyr113Ter)	CHEK2	Pathogenic	22	29121336	29121336	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA323033395
single nucleotide variant	NM_007194.4(CHEK2):c.846+1G>T	CHEK2	Pathogenic/Likely pathogenic	22	29105993	29105993	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA411102255
Deletion	NM_007194.4(CHEK2):c.706del (p.Leu236fs)	CHEK2	Pathogenic	22	29107983	29107983	AG	A	criteria provided, single submitter	ClinGen:CA658799524
single nucleotide variant	NM_007194.4(CHEK2):c.468C>A (p.Tyr156Ter)	CHEK2	Pathogenic	22	29121089	29121089	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA411107669
Deletion	NM_007194.4(CHEK2):c.1544del (p.Pro515fs)	CHEK2	Likely pathogenic	22	29083973	29083973	AG	A	criteria provided, single submitter	ClinGen:CA658799501
single nucleotide variant	NM_007194.4(CHEK2):c.1096-1G>T	CHEK2	Likely pathogenic	22	29091862	29091862	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA411097244
Deletion	NM_007194.4(CHEK2):c.448del (p.Val150fs)	CHEK2	Pathogenic	22	29121109	29121109	AC	A	criteria provided, single submitter	ClinGen:CA658799525