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.5578A>T (p.Lys1860Ter)	BRCA2	Pathogenic	13	32914070	32914070	A	T	reviewed by expert panel	ClinGen:CA022617
Deletion	NM_000059.4(BRCA2):c.6211del (p.Ser2071fs)	BRCA2	Pathogenic	13	32914701	32914701	GA	G	reviewed by expert panel	ClinGen:CA023754
Duplication	NM_000059.4(BRCA2):c.6397dup (p.Ser2133fs)	BRCA2	Pathogenic	13	32914888	32914889	A	AT	reviewed by expert panel	ClinGen:CA023979
Deletion	NM_000059.4(BRCA2):c.6602del (p.Ser2201fs)	BRCA2	Pathogenic	13	32915094	32915094	TC	T	reviewed by expert panel	ClinGen:CA024203
single nucleotide variant	NM_000059.4(BRCA2):c.6959T>A (p.Leu2320Ter)	BRCA2	Pathogenic	13	32920985	32920985	T	A	reviewed by expert panel	ClinGen:CA024636
Deletion	NM_000059.4(BRCA2):c.715del (p.Ser239fs)	BRCA2	Pathogenic	13	32905087	32905087	GA	G	reviewed by expert panel	ClinGen:CA024913
Deletion	NM_000059.4(BRCA2):c.8463del (p.Ile2822fs)	BRCA2	Pathogenic	13	32944669	32944669	AT	A	reviewed by expert panel	ClinGen:CA025656
single nucleotide variant	NM_000059.4(BRCA2):c.8632+1G>T	BRCA2	Pathogenic	13	32945238	32945238	G	T	criteria provided, single submitter	ClinGen:CA025741
single nucleotide variant	NM_000059.4(BRCA2):c.8837T>A (p.Leu2946Ter)	BRCA2	Pathogenic	13	32953536	32953536	T	A	reviewed by expert panel	ClinGen:CA025845
Deletion	NM_000059.4(BRCA2):c.8975_9100del (p.Pro2992_Thr3033del)	BRCA2	Pathogenic/Likely pathogenic	13	32953906	32954031	GTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAAC	G	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA2):9203&base_change=del 126,ClinGen:CA025906