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.37G>T (p.Glu13Ter)	BRCA2	Pathogenic	13	32890634	32890634	G	T	reviewed by expert panel	ClinGen:CA018834
Insertion	NM_000059.4(BRCA2):c.37_38insT (p.Glu13fs)	BRCA2	Pathogenic	13	32890634	32890635	G	GT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):265&base_change=ins T,ClinGen:CA018683
Deletion	NM_000059.4(BRCA2):c.37_44del (p.Phe12_Glu13insTer)	BRCA2	Pathogenic	13	32890630	32890637	TTTTTGAAA	T	reviewed by expert panel	ClinGen:CA018705
Duplication	NM_000059.4(BRCA2):c.48dup (p.Thr17fs)	BRCA2	Pathogenic	13	32890644	32890645	A	AG	reviewed by expert panel	ClinGen:CA10589002
Indel	NM_000059.3(BRCA2):c.48_50delinsATCGATCGAT (p.Thr17fs)	BRCA2	Pathogenic	13	32890645	32890647	GAC	ATCGATCGAT	reviewed by expert panel	ClinGen:CA10589001
Duplication	NM_000059.4(BRCA2):c.51dup (p.Arg18fs)	BRCA2	Pathogenic	13	32890647	32890648	C	CA	reviewed by expert panel	ClinGen:CA021397
Deletion	NM_000059.4(BRCA2):c.52_61del (p.Arg18fs)	BRCA2	Pathogenic	13	32890646	32890655	GACACGCTGCA	G	reviewed by expert panel	ClinGen:CA10589003
Deletion	NM_000059.4(BRCA2):c.63del (p.Ala22fs)	BRCA2	Pathogenic	13	32890658	32890658	CA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):291&base_change=del A,ClinGen:CA023987
single nucleotide variant	NM_000059.4(BRCA2):c.67G>T (p.Asp23Tyr)	BRCA2	Pathogenic/Likely pathogenic	13	32890664	32890664	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA024413
Deletion	NM_000059.3(BRCA2):c.-39-?_67+?del	BRCA2	Pathogenic	13	32890559	32890664	na	na	criteria provided, multiple submitters, no conflicts	-