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	NC_000011.10:g.(?_108222832)_(108369099_?)del	ATM	Pathogenic	11	108093559	108239826	na	na	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.1212_1213del (p.Gln404_Asn405insTer)	ATM	Pathogenic	11	108119805	108119806	CAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612981
Deletion	NM_000051.4(ATM):c.1446del (p.Lys482fs)	ATM	Pathogenic	11	108121635	108121635	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612986
single nucleotide variant	NM_000051.4(ATM):c.1939G>T (p.Glu647Ter)	ATM	Pathogenic	11	108124581	108124581	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613019
Deletion	NM_000051.4(ATM):c.3242_3245del (p.Asn1081fs)	ATM	Pathogenic	11	108143535	108143538	ACAAT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613033
Deletion	NC_000011.10:g.(?_108289602)_(108289801_?)del	ATM	Pathogenic	11	108160329	108160528	na	na	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_108292619)_(108299885_?)del	ATM	Likely pathogenic	11	108163346	108170612	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.4318A>T (p.Lys1440Ter)	ATM	Pathogenic/Likely pathogenic	11	108160410	108160410	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613046
Indel	NM_000051.4(ATM):c.4330_4333delinsTAAAATAAA (p.Leu1444_Phe1445delinsTer)	ATM	Pathogenic	11	108160422	108160425	CTGT	TAAAATAAA	criteria provided, single submitter	ClinGen:CA16613051
single nucleotide variant	NM_000051.4(ATM):c.662+1G>A	ATM	Likely pathogenic	11	108114846	108114846	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613056