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
Indel	NM_000059.4(BRCA2):c.8566_8567delinsC (p.Glu2856fs)	BRCA2	Pathogenic	13	32945171	32945172	GA	C	reviewed by expert panel	ClinGen:CA10576074
Deletion	NM_000059.4(BRCA2):c.8930del (p.Tyr2977fs)	BRCA2	Pathogenic	13	32953629	32953629	TA	T	reviewed by expert panel	ClinGen:CA10576075
Deletion	NM_000059.4(BRCA2):c.9053_9057del (p.Ser3018fs)	BRCA2	Pathogenic	13	32953983	32953987	AAAAGT	A	reviewed by expert panel	ClinGen:CA10576076
Deletion	NM_000059.4(BRCA2):c.9117+1del	BRCA2	Pathogenic/Likely pathogenic	13	32954050	32954050	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576077
Deletion	NM_007294.4(BRCA1):c.1600del (p.Gln534fs)	BRCA1	Pathogenic	17	41245948	41245948	TG	T	reviewed by expert panel	ClinGen:CA10576086
Deletion	NM_007294.4(BRCA1):c.886del (p.Arg296fs)	BRCA1	Pathogenic	17	41246662	41246662	CT	C	reviewed by expert panel	ClinGen:CA10576089
single nucleotide variant	NM_000059.4(BRCA2):c.1832C>G (p.Ser611Ter)	BRCA2	Pathogenic	13	32907447	32907447	C	G	reviewed by expert panel	ClinGen:CA501226
single nucleotide variant	NM_000059.4(BRCA2):c.3187C>T (p.Gln1063Ter)	BRCA2	Pathogenic	13	32911679	32911679	C	T	reviewed by expert panel	ClinGen:CA10576940
single nucleotide variant	NM_000059.4(BRCA2):c.4651C>T (p.Gln1551Ter)	BRCA2	Pathogenic	13	32913143	32913143	C	T	reviewed by expert panel	ClinGen:CA10577473
single nucleotide variant	NM_000059.4(BRCA2):c.5134G>T (p.Gly1712Ter)	BRCA2	Pathogenic	13	32913626	32913626	G	T	reviewed by expert panel	ClinGen:CA10577476