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_007294.4(BRCA1):c.4243G>T (p.Glu1415Ter)	BRCA1	Pathogenic	17	41234535	41234535	C	A	reviewed by expert panel	ClinGen:CA10593235
single nucleotide variant	NM_000059.4(BRCA2):c.4226T>A (p.Leu1409Ter)	BRCA2	Pathogenic	13	32912718	32912718	T	A	reviewed by expert panel	ClinGen:CA16606423
single nucleotide variant	NM_000059.4(BRCA2):c.4354C>T (p.Gln1452Ter)	BRCA2	Pathogenic	13	32912846	32912846	C	T	reviewed by expert panel	ClinGen:CA16606424
single nucleotide variant	NM_002878.4(RAD51D):c.478C>T (p.Gln160Ter)	RAD51D	Pathogenic	17	33434009	33434009	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16607207
single nucleotide variant	NM_000059.4(BRCA2):c.8170G>T (p.Gly2724Trp)	BRCA2	Likely pathogenic	13	32937509	32937509	G	T	criteria provided, single submitter	ClinGen:CA16607488
Deletion	NM_000059.3(BRCA2):c.7436-?_7805+?del	BRCA2	Pathogenic	13	32930565	32932066	na	na	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.959del (p.Leu320fs)	BRCA2	Pathogenic	13	32906574	32906574	CT	C	reviewed by expert panel	ClinGen:CA16613823
Duplication	NM_000059.4(BRCA2):c.1792dup (p.Thr598fs)	BRCA2	Pathogenic	13	32907404	32907405	G	GA	reviewed by expert panel	ClinGen:CA16613841
Deletion	NM_000059.4(BRCA2):c.2235del (p.Val746fs)	BRCA2	Pathogenic	13	32910724	32910724	CA	C	reviewed by expert panel	ClinGen:CA16613853
Deletion	NM_000059.4(BRCA2):c.3077del (p.Lys1026fs)	BRCA2	Pathogenic	13	32911568	32911568	GA	G	reviewed by expert panel	ClinGen:CA16613865