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.733del (p.Arg245fs)	BRCA2	Pathogenic	13	32905107	32905107	TA	T	reviewed by expert panel	ClinGen:CA10579471
Deletion	NM_000059.4(BRCA2):c.834del (p.Cys279fs)	BRCA2	Pathogenic	13	32906449	32906449	GC	G	reviewed by expert panel	ClinGen:CA10579475
Duplication	NM_000059.4(BRCA2):c.857_860dup (p.Met287fs)	BRCA2	Pathogenic	13	32906470	32906471	G	GTCAA	reviewed by expert panel	ClinGen:CA10579476
single nucleotide variant	NM_000059.4(BRCA2):c.888T>A (p.Tyr296Ter)	BRCA2	Pathogenic	13	32906503	32906503	T	A	reviewed by expert panel	ClinGen:CA10579477
Deletion	NM_000059.4(BRCA2):c.1134del (p.Ser378fs)	BRCA2	Pathogenic	13	32906749	32906749	GT	G	reviewed by expert panel	ClinGen:CA10579485
Deletion	NM_000059.4(BRCA2):c.1689del (p.Trp563fs)	BRCA2	Pathogenic	13	32907303	32907303	TG	T	reviewed by expert panel	ClinGen:CA10579502
single nucleotide variant	NM_000059.4(BRCA2):c.1756A>T (p.Lys586Ter)	BRCA2	Pathogenic	13	32907371	32907371	A	T	reviewed by expert panel	ClinGen:CA10579503
single nucleotide variant	NM_000059.4(BRCA2):c.1909+2T>A	BRCA2	Likely pathogenic	13	32907526	32907526	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579514
Deletion	NM_000059.4(BRCA2):c.1943del (p.Ser648fs)	BRCA2	Pathogenic	13	32910435	32910435	TC	T	reviewed by expert panel	ClinGen:CA10579517
single nucleotide variant	NM_000059.4(BRCA2):c.2151T>A (p.Cys717Ter)	BRCA2	Pathogenic	13	32910643	32910643	T	A	reviewed by expert panel	ClinGen:CA10579525