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
Deletion	NM_000059.4(BRCA2):c.9580_9581del (p.Pro3194fs)	BRCA2	Pathogenic	13	32971111	32971112	ACC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9808&base_change=del CC,ClinGen:CA026220
single nucleotide variant	NM_000059.4(BRCA2):c.9599C>G (p.Ser3200Ter)	BRCA2	Pathogenic	13	32971132	32971132	C	G	reviewed by expert panel	ClinGen:CA026227
Deletion	NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs)	BRCA2	Pathogenic/Likely pathogenic	13	32972347	32972350	TTGTA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9927&base_change=del TATG,ClinGen:CA026270
Duplication	NM_000059.4(BRCA2):c.998dup (p.His334fs)	BRCA2	Pathogenic	13	32906609	32906610	A	AT	reviewed by expert panel	ClinGen:CA026353
Deletion	NM_000059.4(BRCA2):c.5482_5486del (p.Lys1828fs)	BRCA2	Pathogenic	13	32913971	32913975	CATTAA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5710&base_change=del AAATT,ClinGen:CA022418
single nucleotide variant	NM_000059.4(BRCA2):c.100G>T (p.Glu34Ter)	BRCA2	Pathogenic	13	32893246	32893246	G	T	reviewed by expert panel	ClinGen:CA010238
Deletion	NM_000059.4(BRCA2):c.1082del (p.Asn361fs)	BRCA2	Pathogenic	13	32906695	32906695	CA	C	reviewed by expert panel	ClinGen:CA010774
Duplication	NM_000059.4(BRCA2):c.1097dup (p.Leu366fs)	BRCA2	Pathogenic	13	32906710	32906711	A	AT	reviewed by expert panel	ClinGen:CA010801
single nucleotide variant	NM_000059.4(BRCA2):c.10G>T (p.Gly4Ter)	BRCA2	Pathogenic	13	32890607	32890607	G	T	reviewed by expert panel	ClinGen:CA010813
single nucleotide variant	NM_000059.4(BRCA2):c.1103C>A (p.Ser368Ter)	BRCA2	Pathogenic	13	32906718	32906718	C	A	reviewed by expert panel	ClinGen:CA010822