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
Duplication	NM_000059.4(BRCA2):c.6305dup (p.Ser2103fs)	BRCA2	Pathogenic	13	32914796	32914797	G	GT	reviewed by expert panel	ClinGen:CA658653664
Duplication	NM_000059.4(BRCA2):c.6681dup (p.Val2228fs)	BRCA2	Pathogenic	13	32915172	32915173	C	CA	reviewed by expert panel	ClinGen:CA658653670
single nucleotide variant	NM_000059.4(BRCA2):c.7115C>A (p.Ser2372Ter)	BRCA2	Pathogenic	13	32929105	32929105	C	A	reviewed by expert panel	ClinGen:CA387738655
Deletion	NM_000059.4(BRCA2):c.7878del (p.Arg2625_Trp2626insTer)	BRCA2	Pathogenic	13	32936731	32936731	TG	T	reviewed by expert panel	ClinGen:CA658653812
Indel	NM_000059.4(BRCA2):c.8374_8384delinsAGG (p.Leu2792fs)	BRCA2	Pathogenic	13	32944581	32944591	CTTGGATTCTT	AGG	reviewed by expert panel	ClinGen:CA658653814
single nucleotide variant	NM_000059.4(BRCA2):c.8497A>T (p.Lys2833Ter)	BRCA2	Pathogenic	13	32945102	32945102	A	T	reviewed by expert panel	ClinGen:CA387752678
single nucleotide variant	NM_000059.4(BRCA2):c.8707G>T (p.Glu2903Ter)	BRCA2	Pathogenic	13	32950881	32950881	G	T	reviewed by expert panel	ClinGen:CA387754889
Duplication	NM_000059.4(BRCA2):c.9183dup (p.Asp3062fs)	BRCA2	Pathogenic	13	32954208	32954209	T	TA	reviewed by expert panel	ClinGen:CA658653815
Insertion	NM_000059.4(BRCA2):c.9194_9195insA (p.Phe3065fs)	BRCA2	Pathogenic	13	32954220	32954221	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658653816
Deletion	NM_007294.4(BRCA1):c.4834_4835del (p.Gln1612fs)	BRCA1	Pathogenic	17	41223096	41223097	CTG	C	reviewed by expert panel	ClinGen:CA658653684