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_000059.4(BRCA2):c.7266T>A (p.Cys2422Ter)	BRCA2	Pathogenic	13	32929256	32929256	T	A	reviewed by expert panel	ClinGen:CA025006
Indel	NM_007294.4(BRCA1):c.5167delinsTTT (p.Ile1723fs)	BRCA1	Pathogenic	17	41215376	41215376	T	AAA	reviewed by expert panel	ClinGen:CA273776
single nucleotide variant	NM_007294.4(BRCA1):c.5057A>G (p.His1686Arg)	BRCA1	Pathogenic/Likely pathogenic	17	41219642	41219642	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA003177,UniProtKB:P38398#VAR_070498
single nucleotide variant	NM_007294.4(BRCA1):c.4998C>A (p.Tyr1666Ter)	BRCA1	Pathogenic	17	41219701	41219701	G	T	reviewed by expert panel	ClinGen:CA003146
single nucleotide variant	NM_007294.4(BRCA1):c.3511A>T (p.Lys1171Ter)	BRCA1	Pathogenic	17	41244037	41244037	T	A	reviewed by expert panel	ClinGen:CA002255
single nucleotide variant	NM_000059.4(BRCA2):c.316+1G>T	BRCA2	Pathogenic	13	32893463	32893463	G	T	reviewed by expert panel	ClinGen:CA017366
Indel	NM_000059.4(BRCA2):c.593_596delinsAGG (p.Leu198_Ala199delinsTer)	BRCA2	Pathogenic	13	32900712	32900715	TAGC	AGG	reviewed by expert panel	ClinGen:CA023386
single nucleotide variant	NM_000059.4(BRCA2):c.799G>T (p.Gly267Ter)	BRCA2	Pathogenic	13	32906414	32906414	G	T	reviewed by expert panel	ClinGen:CA025393
Duplication	NM_000059.4(BRCA2):c.1163_1166dup (p.Ser390fs)	BRCA2	Pathogenic	13	32906777	32906778	G	GTACC	reviewed by expert panel	ClinGen:CA194191
Deletion	NM_000059.4(BRCA2):c.1308_1309del (p.Lys437fs)	BRCA2	Pathogenic	13	32906922	32906923	AAG	A	reviewed by expert panel	ClinGen:CA011541