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.5071A>T (p.Lys1691Ter)	BRCA2	Pathogenic	13	32913563	32913563	A	T	reviewed by expert panel	ClinGen:CA10586534
Deletion	NM_000059.4(BRCA2):c.5130del (p.Asp1709_Tyr1710insTer)	BRCA2	Pathogenic	13	32913622	32913622	AT	A	reviewed by expert panel	ClinGen:CA10586535
Deletion	NM_000059.4(BRCA2):c.5132_5135del (p.Val1711fs)	BRCA2	Pathogenic	13	32913623	32913626	TGTAG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5359&base_change=del GTAG,ClinGen:CA021355
Deletion	NM_000059.4(BRCA2):c.5138del (p.Asn1713fs)	BRCA2	Pathogenic	13	32913628	32913628	GA	G	reviewed by expert panel	ClinGen:CA10586536
Duplication	NM_000059.4(BRCA2):c.5170dup (p.Ile1724fs)	BRCA2	Pathogenic	13	32913661	32913662	T	TA	reviewed by expert panel	ClinGen:CA10586537
single nucleotide variant	NM_000059.4(BRCA2):c.5200G>T (p.Glu1734Ter)	BRCA2	Pathogenic	13	32913692	32913692	G	T	reviewed by expert panel	ClinGen:CA10586538
Insertion	NM_000059.4(BRCA2):c.5241_5242insTA (p.Ser1748Ter)	BRCA2	Pathogenic	13	32913733	32913734	C	CTA	reviewed by expert panel	ClinGen:CA6940857
single nucleotide variant	NM_000059.4(BRCA2):c.5281G>T (p.Gly1761Ter)	BRCA2	Pathogenic	13	32913773	32913773	G	T	reviewed by expert panel	ClinGen:CA10586539
Deletion	NM_000059.4(BRCA2):c.5304del (p.Asp1769fs)	BRCA2	Pathogenic	13	32913795	32913795	CT	C	reviewed by expert panel	ClinGen:CA10586540
Deletion	NM_000059.4(BRCA2):c.5486del (p.Leu1829fs)	BRCA2	Pathogenic	13	32913977	32913977	AT	A	reviewed by expert panel	ClinGen:CA10586541