遺伝性乳がん・卵巣がん症候群

腫瘍性疾患

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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.3172A>T (p.Lys1058Ter)	BRCA2	Pathogenic	13	32911664	32911664	A	T	reviewed by expert panel	ClinGen:CA017460
Deletion	NM_000059.4(BRCA2):c.3820_3823del (p.Phe1273_Lys1274insTer)	BRCA2	Pathogenic	13	32912312	32912315	TAAGA	T	reviewed by expert panel	ClinGen:CA018870
Duplication	NM_000059.4(BRCA2):c.4112dup (p.Phe1372fs)	BRCA2	Pathogenic	13	32912603	32912604	C	CA	reviewed by expert panel	ClinGen:CA019549
Deletion	NM_000059.4(BRCA2):c.4168_4169del (p.Leu1390fs)	BRCA2	Pathogenic	13	32912656	32912657	CTT	C	reviewed by expert panel	ClinGen:CA019652
Deletion	NM_000059.4(BRCA2):c.4277del (p.Thr1426fs)	BRCA2	Pathogenic	13	32912769	32912769	AC	A	reviewed by expert panel	ClinGen:CA019898
Duplication	NM_000059.4(BRCA2):c.6267_6270dup (p.Ser2091delinsAlaTer)	BRCA2	Pathogenic	13	32914758	32914759	A	AGCAT	reviewed by expert panel	ClinGen:CA023803
single nucleotide variant	NM_000059.4(BRCA2):c.6685G>T (p.Glu2229Ter)	BRCA2	Pathogenic	13	32915177	32915177	G	T	reviewed by expert panel	ClinGen:CA024292
Insertion	NM_000059.4(BRCA2):c.7380_7381insG (p.Asn2461fs)	BRCA2	Pathogenic	13	32929370	32929371	C	CG	criteria provided, single submitter	ClinGen:CA025051
Deletion	NM_000059.4(BRCA2):c.7588del (p.Gln2530fs)	BRCA2	Pathogenic	13	32930716	32930716	GC	G	reviewed by expert panel	ClinGen:CA025164
Deletion	NM_000059.4(BRCA2):c.7979_7991del (p.Tyr2660fs)	BRCA2	Pathogenic	13	32937316	32937328	GATATGATACGGAA	G	reviewed by expert panel	ClinGen:CA025378