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_007194.4(CHEK2):c.1049del (p.Pro350fs)	CHEK2	Pathogenic	22	29092935	29092935	TG	T	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.1347del (p.Glu450fs)	CHEK2	Pathogenic	22	29091143	29091143	CA	C	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	-
Insertion	NM_007194.4(CHEK2):c.1279_1280insC (p.Phe427fs)	CHEK2	Pathogenic/Likely pathogenic	22	29091210	29091211	A	AG	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_007194.4(CHEK2):c.320-1G>T	CHEK2	Likely pathogenic	22	29121356	29121356	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_007194.4(CHEK2):c.445-2A>G	CHEK2	Likely pathogenic	22	29121114	29121114	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_007194.4(CHEK2):c.445-1G>A	CHEK2	Likely pathogenic	22	29121113	29121113	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	-
Deletion	NM_007194.4(CHEK2):c.494del (p.Gly165fs)	CHEK2	Pathogenic	22	29121063	29121063	GC	G	criteria provided, single submitter	-