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.1240G>T (p.Gly414Ter)	CHEK2	Pathogenic	22	29091717	29091717	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA411096597
single nucleotide variant	NM_007194.4(CHEK2):c.1096-1G>C	CHEK2	Likely pathogenic	22	29091862	29091862	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA411097245
Deletion	NM_007194.4(CHEK2):c.762del (p.Lys255fs)	CHEK2	Pathogenic	22	29107927	29107927	TC	T	criteria provided, single submitter	ClinGen:CA658656807
Duplication	NM_007194.4(CHEK2):c.152_155dup (p.Ser53fs)	CHEK2	Pathogenic	22	29130554	29130555	G	GGACT	criteria provided, single submitter	ClinGen:CA658656852
Deletion	NC_000022.11:g.(?_28695121)_(28703572_?)del	CHEK2	Pathogenic	22	29091109	29099560	na	na	criteria provided, single submitter	-
Deletion	NC_000022.10:g.(?_29095820)_(29130715_?)del	CHEK2	Pathogenic	22	29095820	29130715	na	na	criteria provided, single submitter	-
Deletion	NC_000022.11:g.(?_28710000)_(28712023_?)del	CHEK2	Pathogenic	22	29105988	29108011	na	na	criteria provided, single submitter	-
Duplication	NM_007194.4(CHEK2):c.1163_1164dup (p.Thr389fs)	CHEK2	Pathogenic	22	29091792	29091793	T	TGG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656828
single nucleotide variant	NM_007194.4(CHEK2):c.1008+1G>T	CHEK2	Likely pathogenic	22	29095825	29095825	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA411099231
Deletion	NM_007194.4(CHEK2):c.600del (p.Phe202fs)	CHEK2	Pathogenic	22	29115466	29115466	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656819