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	NM_000051.4(ATM):c.8608_8650dup (p.Glu2884delinsGlyTer)	ATM	Pathogenic	11	108218028	108218029	T	TGATAGACATGTACAGAATATCTTGATAAATGAGCAGTCAGCAG	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.8824C>T (p.Gln2942Ter)	ATM	Pathogenic	11	108225575	108225575	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000051.4(ATM):c.9131dup (p.Asn3044fs)	ATM	Pathogenic	11	108236190	108236191	C	CA	criteria provided, single submitter	-
single nucleotide variant	NM_007194.4(CHEK2):c.1355G>A (p.Trp452Ter)	CHEK2	Pathogenic	22	29091135	29091135	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007194.4(CHEK2):c.1347del (p.Glu450fs)	CHEK2	Pathogenic	22	29091143	29091143	CA	C	criteria provided, single submitter	-
Indel	NM_007194.4(CHEK2):c.1335_1336delinsAC (p.Tyr445_Asn446delinsTer)	CHEK2	Pathogenic	22	29091154	29091155	TG	GT	criteria provided, single submitter	-
Deletion	NM_007194.4(CHEK2):c.1049del (p.Pro350fs)	CHEK2	Pathogenic	22	29092935	29092935	TG	T	criteria provided, single submitter	-
Deletion	NM_007194.4(CHEK2):c.1019_1034del (p.Glu340fs)	CHEK2	Pathogenic	22	29092950	29092965	GTGTATAATACCGTTTT	G	criteria provided, single submitter	-
Deletion	NM_007194.4(CHEK2):c.990del (p.Met331fs)	CHEK2	Pathogenic	22	29095844	29095844	TC	T	criteria provided, single submitter	-
single nucleotide variant	NM_007194.4(CHEK2):c.655G>T (p.Glu219Ter)	CHEK2	Pathogenic	22	29115411	29115411	C	A	criteria provided, multiple submitters, no conflicts	-