遺伝性乳がん (ATM/CHEK2)

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.1489del (p.Asp497fs)	CHEK2	Pathogenic/Likely pathogenic	22	29085176	29085176	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA191237
Deletion	NM_007194.4(CHEK2):c.1434del (p.Glu479fs)	CHEK2	Pathogenic	22	29090047	29090047	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA193533
Deletion	NM_007194.4(CHEK2):c.1222_1237del (p.Ala407_Val408insTer)	CHEK2	Pathogenic	22	29091720	29091735	AAACTCCAGCAGTCCAC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA195139
single nucleotide variant	NM_007194.4(CHEK2):c.1011C>A (p.Tyr337Ter)	CHEK2	Pathogenic	22	29092973	29092973	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA191748
Duplication	NM_007194.4(CHEK2):c.920dup (p.Glu308fs)	CHEK2	Pathogenic	22	29095913	29095914	T	TC	criteria provided, multiple submitters, no conflicts	ClinGen:CA195208
single nucleotide variant	NM_007194.4(CHEK2):c.683+1G>T	CHEK2	Pathogenic/Likely pathogenic	22	29115382	29115382	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA197378
Duplication	NM_007194.4(CHEK2):c.661_664dup (p.Met222fs)	CHEK2	Pathogenic	22	29115401	29115402	A	ATGAT	criteria provided, multiple submitters, no conflicts	ClinGen:CA192259
Deletion	NM_007194.4(CHEK2):c.655del (p.Glu219fs)	CHEK2	Pathogenic/Likely pathogenic	22	29115411	29115411	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA193133
single nucleotide variant	NM_007194.4(CHEK2):c.593-1G>A	CHEK2	Likely pathogenic	22	29115474	29115474	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA195907
Deletion	NM_007194.4(CHEK2):c.364del (p.Glu122fs)	CHEK2	Pathogenic	22	29121311	29121311	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA196346