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.523C>T (p.Gln175Ter)	BRCA2	Pathogenic	13	32900642	32900642	C	T	reviewed by expert panel	ClinGen:CA6940396
Deletion	NM_000059.4(BRCA2):c.541del (p.Ser181fs)	BRCA2	Pathogenic	13	32900658	32900658	AT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):767&base_change=del T,ClinGen:CA022226
single nucleotide variant	NM_000059.4(BRCA2):c.584C>G (p.Ser195Ter)	BRCA2	Pathogenic	13	32900703	32900703	C	G	reviewed by expert panel	ClinGen:CA10586482
Deletion	NM_000059.4(BRCA2):c.674del (p.Thr225fs)	BRCA2	Pathogenic	13	32903622	32903622	AC	A	reviewed by expert panel	ClinGen:CA10586483
Deletion	NM_000059.4(BRCA2):c.677del (p.Thr226fs)	BRCA2	Pathogenic	13	32903625	32903625	AC	A	reviewed by expert panel	ClinGen:CA10586484
Deletion	NM_000059.4(BRCA2):c.754_755del (p.Asp252fs)	BRCA2	Pathogenic	13	32905127	32905128	CAG	C	reviewed by expert panel	ClinGen:CA10586485
Deletion	NM_000059.4(BRCA2):c.833del (p.Ser278fs)	BRCA2	Pathogenic	13	32906448	32906448	AG	A	reviewed by expert panel	ClinGen:CA10586486
Duplication	NM_000059.4(BRCA2):c.925dup (p.Ser309fs)	BRCA2	Pathogenic	13	32906535	32906536	G	GT	reviewed by expert panel	ClinGen:CA10586487
single nucleotide variant	NM_000059.4(BRCA2):c.926C>A (p.Ser309Ter)	BRCA2	Pathogenic	13	32906541	32906541	C	A	reviewed by expert panel	ClinGen:CA10586488
Duplication	NM_000059.4(BRCA2):c.1055dup (p.Tyr352Ter)	BRCA2	Pathogenic	13	32906669	32906670	T	TA	reviewed by expert panel	ClinGen:CA10586489