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
Deletion	NM_000059.4(BRCA2):c.9069_9076del (p.Asn3024fs)	BRCA2	Pathogenic	13	32954001	32954008	GCTAACATA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9297&base_change=del TAACATAC,ClinGen:CA025957
Deletion	NM_000059.4(BRCA2):c.906del (p.Ser303fs)	BRCA2	Pathogenic	13	32906520	32906520	AC	A	reviewed by expert panel	ClinGen:CA025958
Deletion	NM_000059.4(BRCA2):c.9074_9075del (p.Ile3025fs)	BRCA2	Pathogenic	13	32954006	32954007	CAT	C	reviewed by expert panel	ClinGen:CA025960
Deletion	NM_000059.4(BRCA2):c.9094_9097del (p.Lys3032fs)	BRCA2	Pathogenic	13	32954023	32954026	CAAAA	C	reviewed by expert panel	ClinGen:CA025969
Insertion	NM_000059.4(BRCA2):c.9098_9099insA (p.Gln3034fs)	BRCA2	Pathogenic	13	32954031	32954032	C	CA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9326&base_change=ins A,ClinGen:CA025972
Deletion	NM_000059.4(BRCA2):c.9099_9100del (p.Gln3034fs)	BRCA2	Pathogenic	13	32954031	32954032	ACT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9327&base_change=del TC,ClinGen:CA025975
single nucleotide variant	NM_000059.4(BRCA2):c.9100C>T (p.Gln3034Ter)	BRCA2	Pathogenic	13	32954033	32954033	C	T	reviewed by expert panel	ClinGen:CA025978
Duplication	NM_000059.4(BRCA2):c.9100dup (p.Gln3034fs)	BRCA2	Pathogenic	13	32954032	32954033	T	TC	reviewed by expert panel	ClinGen:CA025977
single nucleotide variant	NM_000059.4(BRCA2):c.9109C>T (p.Gln3037Ter)	BRCA2	Pathogenic	13	32954042	32954042	C	T	reviewed by expert panel	ClinGen:CA025985
single nucleotide variant	NM_000059.4(BRCA2):c.9117+1G>A	BRCA2	Pathogenic	13	32954051	32954051	G	A	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA2):9345+1&base_change=G to A,ClinGen:CA025989