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.8331+2T>G	BRCA2	Pathogenic/Likely pathogenic	13	32937672	32937672	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579777
Deletion	NM_000059.4(BRCA2):c.8356del (p.Ala2786fs)	BRCA2	Pathogenic	13	32944563	32944563	TG	T	reviewed by expert panel	ClinGen:CA10579781
Indel	NM_000059.4(BRCA2):c.9093_9094delinsG (p.Thr3033fs)	BRCA2	Pathogenic	13	32954026	32954027	AA	G	reviewed by expert panel	ClinGen:CA10579809
Indel	NM_000059.4(BRCA2):c.9195_9196delinsAT (p.Phe3065_Gln3066delinsLeuTer)	BRCA2	Pathogenic	13	32954221	32954222	TC	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579815
Deletion	NM_000059.4(BRCA2):c.9233del (p.Val3078fs)	BRCA2	Pathogenic	13	32954259	32954259	GT	G	reviewed by expert panel	ClinGen:CA10579820
Deletion	NM_000059.4(BRCA2):c.9278del (p.Leu3093fs)	BRCA2	Pathogenic	13	32968845	32968845	AT	A	reviewed by expert panel	ClinGen:CA10579823
single nucleotide variant	NM_000059.4(BRCA2):c.9356T>A (p.Leu3119Ter)	BRCA2	Pathogenic	13	32968925	32968925	T	A	reviewed by expert panel	ClinGen:CA10579829
Deletion	NM_000059.4(BRCA2):c.9409_9412del (p.Thr3137fs)	BRCA2	Pathogenic	13	32968975	32968978	TCTTA	T	reviewed by expert panel	ClinGen:CA10579831
Duplication	NM_000059.4(BRCA2):c.9413dup (p.Leu3138fs)	BRCA2	Pathogenic	13	32968979	32968980	C	CT	reviewed by expert panel	ClinGen:CA10579832
Insertion	NM_000059.4(BRCA2):c.9717_9718insAT (p.Val3240fs)	BRCA2	Pathogenic	13	32972366	32972367	C	CTA	criteria provided, single submitter	ClinGen:CA10579843