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.1179T>A (p.Cys393Ter)	BRCA2	Pathogenic	13	32906794	32906794	T	A	reviewed by expert panel	ClinGen:CA387761977
single nucleotide variant	NM_000059.4(BRCA2):c.1532C>A (p.Ser511Ter)	BRCA2	Pathogenic	13	32907147	32907147	C	A	reviewed by expert panel	ClinGen:CA387764598
Deletion	NM_000059.4(BRCA2):c.1696del (p.Thr566fs)	BRCA2	Pathogenic	13	32907311	32907311	CA	C	reviewed by expert panel	ClinGen:CA658653659
single nucleotide variant	NM_000059.4(BRCA2):c.2376C>G (p.Tyr792Ter)	BRCA2	Pathogenic	13	32910868	32910868	C	G	reviewed by expert panel	ClinGen:CA387771812
single nucleotide variant	NM_000059.4(BRCA2):c.2581C>T (p.Gln861Ter)	BRCA2	Pathogenic	13	32911073	32911073	C	T	reviewed by expert panel	ClinGen:CA387772589
Deletion	NM_000059.4(BRCA2):c.2670del (p.Phe890fs)	BRCA2	Pathogenic	13	32911159	32911159	AT	A	reviewed by expert panel	ClinGen:CA658653669
single nucleotide variant	NM_000059.4(BRCA2):c.3436G>T (p.Glu1146Ter)	BRCA2	Pathogenic	13	32911928	32911928	G	T	reviewed by expert panel	ClinGen:CA387776599
Deletion	NM_000059.4(BRCA2):c.3710del (p.Ala1237fs)	BRCA2	Pathogenic	13	32912202	32912202	GC	G	reviewed by expert panel	ClinGen:CA658653655
Duplication	NM_000059.4(BRCA2):c.3866_3868dup (p.Cys1290Ter)	BRCA2	Pathogenic	13	32912357	32912358	A	AAAT	reviewed by expert panel	ClinGen:CA658653658
Deletion	NM_000059.4(BRCA2):c.4135del (p.Gln1379fs)	BRCA2	Pathogenic	13	32912627	32912627	TC	T	reviewed by expert panel	ClinGen:CA658653662