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
Insertion	NM_000059.4(BRCA2):c.2758_2759insATGG (p.Pro920fs)	BRCA2	Pathogenic	13	32911250	32911251	C	CATGG	reviewed by expert panel	ClinGen:CA10589171
Deletion	NM_000059.4(BRCA2):c.2764_2777del (p.Phe922fs)	BRCA2	Pathogenic	13	32911256	32911269	TTTCAAGAACTCTAC	T	reviewed by expert panel	ClinGen:CA10589172
Duplication	NM_000059.4(BRCA2):c.2775dup (p.Thr926fs)	BRCA2	Pathogenic	13	32911266	32911267	C	CT	reviewed by expert panel	ClinGen:CA10589173
Deletion	NM_000059.4(BRCA2):c.2781_2785del (p.Met927fs)	BRCA2	Pathogenic	13	32911272	32911276	ATGGTT	A	reviewed by expert panel	ClinGen:CA10589174
single nucleotide variant	NM_000059.4(BRCA2):c.2847T>A (p.Tyr949Ter)	BRCA2	Pathogenic	13	32911339	32911339	T	A	reviewed by expert panel	ClinGen:CA10589175
Deletion	NM_000059.4(BRCA2):c.2858del (p.Glu953fs)	BRCA2	Pathogenic	13	32911350	32911350	GA	G	reviewed by expert panel	ClinGen:CA10589176
Deletion	NM_000059.4(BRCA2):c.2880del (p.Lys960fs)	BRCA2	Pathogenic	13	32911372	32911372	AG	A	reviewed by expert panel	ClinGen:CA10589177
Duplication	NM_000059.4(BRCA2):c.2896dup (p.Thr966fs)	BRCA2	Pathogenic	13	32911387	32911388	G	GA	reviewed by expert panel	ClinGen:CA10589178
Deletion	NM_000059.4(BRCA2):c.2945del (p.Ile982fs)	BRCA2	Pathogenic	13	32911437	32911437	AT	A	reviewed by expert panel	ClinGen:CA10589179
Deletion	NM_000059.4(BRCA2):c.2954_2957del (p.Lys985fs)	BRCA2	Pathogenic	13	32911443	32911446	GAAAA	G	reviewed by expert panel	ClinGen:CA10589180