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_000051.4(ATM):c.9005del (p.Phe3002fs)	ATM	Pathogenic	11	108236067	108236067	GT	G	criteria provided, single submitter	ClinGen:CA10579332
single nucleotide variant	NM_000051.4(ATM):c.9019G>T (p.Glu3007Ter)	ATM	Pathogenic/Likely pathogenic	11	108236083	108236083	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579335
Duplication	NM_000051.4(ATM):c.9021dup (p.Arg3008fs)	ATM	Pathogenic/Likely pathogenic	11	108236083	108236084	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579336
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.1486C>T (p.Gln496Ter)	CHEK2	Pathogenic/Likely pathogenic	22	29085179	29085179	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10167625
single nucleotide variant	NM_007194.4(CHEK2):c.1459C>T (p.Gln487Ter)	CHEK2	Pathogenic	22	29090022	29090022	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581026
single nucleotide variant	NM_007194.4(CHEK2):c.1376-1G>A	CHEK2	Likely pathogenic	22	29090106	29090106	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581034
Deletion	NM_007194.4(CHEK2):c.1375+1_1375+2del	CHEK2	Likely pathogenic	22	29091113	29091114	TAC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581036
Deletion	NM_007194.4(CHEK2):c.1337del (p.Asn446fs)	CHEK2	Pathogenic/Likely pathogenic	22	29091153	29091153	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581040
single nucleotide variant	NM_007194.4(CHEK2):c.1315C>T (p.Gln439Ter)	CHEK2	Pathogenic/Likely pathogenic	22	29091175	29091175	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581042