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.292del (p.Ala98fs)	CHEK2	Pathogenic	22	29130418	29130418	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799528
Deletion	NC_000022.11:g.(?_28687891)_(28734727_?)del	CHEK2	Pathogenic	22	29083879	29130715	na	na	criteria provided, single submitter	-
Deletion	NM_007194.4(CHEK2):c.1543-9_1546del	CHEK2	Pathogenic/Likely pathogenic	22	29083971	29083983	GAAGGCTGAAAATA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799499
single nucleotide variant	NM_007194.4(CHEK2):c.1009-1G>A	CHEK2	Likely pathogenic	22	29092976	29092976	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA411097868
Duplication	NM_007194.4(CHEK2):c.979dup (p.Tyr327fs)	CHEK2	Pathogenic	22	29095854	29095855	T	TA	criteria provided, single submitter	ClinGen:CA658799511
single nucleotide variant	NM_007194.4(CHEK2):c.79C>T (p.Gln27Ter)	CHEK2	Pathogenic	22	29130631	29130631	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA411091646
Deletion	NM_000051.4(ATM):c.364_368del (p.Asn122fs)	ATM	Pathogenic	11	108106426	108106430	CTTAAA	C	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.392C>G (p.Ser131Ter)	ATM	Pathogenic/Likely pathogenic	11	108106457	108106457	C	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000051.4(ATM):c.432dup (p.Leu145fs)	ATM	Pathogenic/Likely pathogenic	11	108106496	108106497	T	TA	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.1285_1288del (p.Asn429fs)	ATM	Pathogenic/Likely pathogenic	11	108121475	108121478	CCTAA	C	criteria provided, multiple submitters, no conflicts	-