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_000051.4(ATM):c.8269-1G>C	ATM	Pathogenic/Likely pathogenic	11	108213948	108213948	G	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.4612-3_4616del	ATM	Pathogenic/Likely pathogenic	11	108164033	108164040	ATATTTAGG	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.6273del (p.Trp2091fs)	ATM	Pathogenic/Likely pathogenic	11	108188173	108188173	TG	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_007194.4(CHEK2):c.625C>T (p.Gln209Ter)	CHEK2	Pathogenic/Likely pathogenic	22	29115441	29115441	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.8425C>T (p.Gln2809Ter)	ATM	Pathogenic/Likely pathogenic	11	108216476	108216476	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.6082del (p.Gln2028fs)	ATM	Pathogenic/Likely pathogenic	11	108186625	108186625	AC	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007194.4(CHEK2):c.1164del (p.Thr389fs)	CHEK2	Pathogenic/Likely pathogenic	22	29091793	29091793	TG	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.1110C>A (p.Tyr370Ter)	ATM	Pathogenic/Likely pathogenic	11	108119704	108119704	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007194.4(CHEK2):c.952del (p.Arg318fs)	CHEK2	Pathogenic/Likely pathogenic	22	29095882	29095882	CG	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_007194.4(CHEK2):c.683+2T>C	CHEK2	Pathogenic/Likely pathogenic	22	29115381	29115381	A	G	criteria provided, multiple submitters, no conflicts	-