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
Deletion	NM_000051.4(ATM):c.9146del (p.Phe3049fs)	ATM	Likely pathogenic	11	108236207	108236207	CT	C	criteria provided, single submitter	-
Deletion	NM_007194.4(CHEK2):c.1361_1362del (p.Glu454fs)	CHEK2	Likely pathogenic	22	29091128	29091129	CTT	C	criteria provided, single submitter	-
single nucleotide variant	NM_007194.4(CHEK2):c.988C>T (p.Gln330Ter)	CHEK2	Pathogenic	22	29095846	29095846	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007194.4(CHEK2):c.1134del (p.Ser379fs)	CHEK2	Pathogenic	22	29091823	29091823	AG	A	criteria provided, single submitter	-
Deletion	NM_007194.4(CHEK2):c.971del (p.Cys324fs)	CHEK2	Pathogenic	22	29095863	29095863	GC	G	criteria provided, single submitter	-
Deletion	NM_007194.4(CHEK2):c.494del (p.Gly165fs)	CHEK2	Pathogenic	22	29121063	29121063	GC	G	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.6082del (p.Gln2028fs)	ATM	Pathogenic/Likely pathogenic	11	108186625	108186625	AC	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	-
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.4040T>A (p.Leu1347Ter)	ATM	Pathogenic	11	108158373	108158373	T	A	criteria provided, multiple submitters, no conflicts	-