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.7701_7702del (p.Asn2567fs)	ATM	Pathogenic	11	108202676	108202677	AAC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619237
Deletion	NM_000051.4(ATM):c.7929delA (p.Gly2644fs)	ATM	Pathogenic/Likely pathogenic	11	108204613	108204613	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619242
Deletion	NM_000051.4(ATM):c.8103_8104del (p.Ile2702fs)	ATM	Pathogenic/Likely pathogenic	11	108205788	108205789	TAA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619246
single nucleotide variant	NM_000051.4(ATM):c.8140C>T (p.Gln2714Ter)	ATM	Pathogenic	11	108205825	108205825	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619247
single nucleotide variant	NM_000051.4(ATM):c.8149A>T (p.Lys2717Ter)	ATM	Likely pathogenic	11	108205834	108205834	A	T	criteria provided, single submitter	ClinGen:CA16619248
single nucleotide variant	NM_000051.4(ATM):c.8268+1G>A	ATM	Likely pathogenic	11	108206689	108206689	G	A	reviewed by expert panel	ClinGen:CA16619252
Deletion	NM_000051.4(ATM):c.8371_8374del (p.Tyr2791fs)	ATM	Pathogenic/Likely pathogenic	11	108214050	108214053	GATAC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619257
single nucleotide variant	NM_000051.4(ATM):c.8373C>A (p.Tyr2791Ter)	ATM	Pathogenic/Likely pathogenic	11	108214053	108214053	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619258
Duplication	NM_000051.4(ATM):c.8655dup (p.Val2886fs)	ATM	Pathogenic	11	108218074	108218075	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA6266402
Indel	NM_000051.4(ATM):c.8918_8929delinsTGT (p.Arg2973_Glu2977delinsMetTer)	ATM	Pathogenic/Likely pathogenic	11	108235876	108235887	GGCCGGAAGATG	TGT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619269