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
Duplication	NM_000059.4(BRCA2):c.8253dup (p.Ile2752fs)	BRCA2	Pathogenic	13	32937590	32937591	A	AT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8481&base_change=ins T,ClinGen:CA025540
Deletion	NM_000059.4(BRCA2):c.826_830del (p.Lys275_Val276insTer)	BRCA2	Pathogenic	13	32906437	32906441	TTAAAG	T	reviewed by expert panel	ClinGen:CA025546
Deletion	NM_000059.4(BRCA2):c.8297del (p.Thr2766fs)	BRCA2	Pathogenic	13	32937636	32937636	AC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8525&base_change=del C,ClinGen:CA025553,OMIM:600185.0007
Duplication	NM_000059.4(BRCA2):c.8322dup (p.Met2775fs)	BRCA2	Pathogenic	13	32937659	32937660	C	CT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8550&base_change=ins T,ClinGen:CA025570
single nucleotide variant	NM_000059.4(BRCA2):c.8331+1G>A	BRCA2	Pathogenic/Likely pathogenic	13	32937671	32937671	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA025578
Indel	NM_000059.4(BRCA2):c.8414_8416delinsC (p.Leu2805fs)	BRCA2	Pathogenic	13	32944621	32944623	TAT	C	reviewed by expert panel	ClinGen:CA025629
single nucleotide variant	NM_000059.4(BRCA2):c.8487+1G>T	BRCA2	Pathogenic	13	32944695	32944695	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA025671
single nucleotide variant	NM_000059.4(BRCA2):c.8488-1G>A	BRCA2	Pathogenic	13	32945092	32945092	G	A	reviewed by expert panel	ClinGen:CA025677,OMIM:600185.0017
Deletion	NM_000059.4(BRCA2):c.8501del (p.Thr2834fs)	BRCA2	Pathogenic	13	32945106	32945106	AC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8729&base_change=del C,ClinGen:CA025683
Deletion	NM_000059.4(BRCA2):c.8548_8551del (p.Glu2850fs)	BRCA2	Pathogenic	13	32945150	32945153	AAAGG	A	reviewed by expert panel	ClinGen:CA025705