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
Insertion	NM_007194.4(CHEK2):c.1558_1559insC (p.Lys520fs)	CHEK2	Likely pathogenic	22	29083958	29083959	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581023
single nucleotide variant	NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter)	CHEK2	Pathogenic/Likely pathogenic	22	29083962	29083962	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA288290
Deletion	NM_007194.4(CHEK2):c.1547del (p.Ser516fs)	CHEK2	Likely pathogenic	22	29083970	29083970	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656809
Duplication	NM_007194.4(CHEK2):c.1546dup (p.Ser516fs)	CHEK2	Likely pathogenic	22	29083970	29083971	G	GA	criteria provided, single submitter	ClinGen:CA658799500
Deletion	NM_007194.4(CHEK2):c.1544del (p.Pro515fs)	CHEK2	Likely pathogenic	22	29083973	29083973	AG	A	criteria provided, single submitter	ClinGen:CA658799501
Deletion	NC_000022.11:g.(?_28687743)_(28687986_?)del	CHEK2	Likely pathogenic	22	29083731	29083974	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
Deletion	NC_000022.11:g.(?_28687887)_(28687996_?)del	CHEK2	Likely pathogenic	22	29083875	29083984	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_007194.4(CHEK2):c.1528C>T (p.Gln510Ter)	CHEK2	Pathogenic/Likely pathogenic	22	29085137	29085137	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588716
Duplication	NM_007194.4(CHEK2):c.1522dup (p.Leu508fs)	CHEK2	Pathogenic/Likely pathogenic	22	29085142	29085143	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656811