遺伝性乳がん・卵巣がん症候群

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
single nucleotide variant	NM_007294.4(BRCA1):c.4930G>T (p.Glu1644Ter)	BRCA1	Pathogenic	17	41223001	41223001	C	A	reviewed by expert panel	ClinGen:CA003081
Deletion	NM_007294.4(BRCA1):c.4936del (p.Val1646fs)	BRCA1	Pathogenic	17	41222995	41222995	AC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5053&base_change=del G,Breast Cancer Information Core (BIC) (BRCA1):5055&base_change=del G,ClinGen:CA003086
Deletion	NM_007294.4(BRCA1):c.493del (p.Thr164_Leu165insTer)	BRCA1	Pathogenic	17	41251846	41251846	AG	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):612&base_change=del C,ClinGen:CA003091
Deletion	NM_007294.4(BRCA1):c.4941del (p.Asn1647fs)	BRCA1	Pathogenic	17	41222990	41222990	TG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5060&base_change=del C,ClinGen:CA003093
Indel	NM_007294.4(BRCA1):c.4945_4947delinsTTTT (p.Arg1649fs)	BRCA1	Pathogenic	17	41222984	41222986	TCT	AAAA	reviewed by expert panel	ClinGen:CA003097
Deletion	NM_007294.4(BRCA1):c.4945del (p.Arg1649fs)	BRCA1	Pathogenic	17	41222986	41222986	CT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5061&base_change=del A,ClinGen:CA003094
Duplication	NM_007294.4(BRCA1):c.494dup (p.Arg166fs)	BRCA1	Pathogenic	17	41251844	41251845	C	CA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):613&base_change=ins T,ClinGen:CA003096
single nucleotide variant	NM_007294.4(BRCA1):c.4964C>T (p.Ser1655Phe)	BRCA1	Pathogenic/Likely pathogenic	17	41222967	41222967	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA003111,UniProtKB:P38398#VAR_070496
Deletion	NM_007294.4(BRCA1):c.4964_4979del (p.Val1654_Ser1655insTer)	BRCA1	Pathogenic	17	41222952	41222967	TTCTGGGGTCAGGCCAG	T	reviewed by expert panel	ClinGen:CA003106
single nucleotide variant	NM_007294.4(BRCA1):c.4981G>T (p.Glu1661Ter)	BRCA1	Pathogenic	17	41222950	41222950	C	A	reviewed by expert panel	ClinGen:CA003116