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.7529T>C (p.Leu2510Pro)	BRCA2	Pathogenic	13	32930658	32930658	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA025134,OMIM:600185.0030
single nucleotide variant	NM_000059.4(BRCA2):c.5645C>G (p.Ser1882Ter)	BRCA2	Pathogenic	13	32914137	32914137	C	G	reviewed by expert panel	ClinGen:CA022825,OMIM:600185.0031
single nucleotide variant	NM_000059.4(BRCA2):c.9196C>T (p.Gln3066Ter)	BRCA2	Pathogenic	13	32954222	32954222	C	T	reviewed by expert panel	ClinGen:CA026028,OMIM:600185.0032
single nucleotide variant	NM_000059.4(BRCA2):c.631+1G>A	BRCA2	Pathogenic/Likely pathogenic	13	32900751	32900751	G	A	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA2):859+1&base_change=G to A,ClinGen:CA023848,OMIM:600185.0033
single nucleotide variant	NM_000059.4(BRCA2):c.631+2T>G	BRCA2	Pathogenic	13	32900752	32900752	T	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):859+2&base_change=T to G,ClinGen:CA023852,OMIM:600185.0034
Deletion	NM_000059.4(BRCA2):c.1029del (p.Lys343fs)	BRCA2	Pathogenic	13	32906640	32906640	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1257&base_change=del A,ClinGen:CA010596
Duplication	NM_000059.4(BRCA2):c.1054dup (p.Tyr352fs)	BRCA2	Pathogenic	13	32906668	32906669	A	AT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1282&base_change=ins T,ClinGen:CA010673
Deletion	NM_000059.4(BRCA2):c.1156del (p.Glu386fs)	BRCA2	Pathogenic	13	32906770	32906770	AG	A	reviewed by expert panel	ClinGen:CA010998
Insertion	NM_000059.3(BRCA2):c.1189_1190ins4	BRCA2	Pathogenic	13	32906804	32906805	na	na	criteria provided, single submitter	Breast Cancer Information Core (BIC) (BRCA2):1417&base_change=ins 4
Deletion	NM_000059.4(BRCA2):c.1205del (p.Gly402fs)	BRCA2	Pathogenic	13	32906819	32906819	AG	A	reviewed by expert panel	ClinGen:CA011169