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.8245C>T (p.Gln2749Ter)	BRCA2	Pathogenic	13	32937584	32937584	C	T	reviewed by expert panel	ClinGen:CA387749914
Duplication	NM_000059.4(BRCA2):c.8655dup (p.Pro2886fs)	BRCA2	Pathogenic	13	32950828	32950829	T	TA	reviewed by expert panel	ClinGen:CA645372963
Deletion	NM_000059.4(BRCA2):c.9018_9022del (p.Arg3007fs)	BRCA2	Pathogenic	13	32953950	32953954	TACAGA	T	reviewed by expert panel	ClinGen:CA645372937
Deletion	NM_007294.4(BRCA1):c.5509_5510del (p.Trp1837fs)	BRCA1	Pathogenic	17	41197777	41197778	CCA	C	reviewed by expert panel	ClinGen:CA645373148
Deletion	NM_007294.4(BRCA1):c.5091del (p.Cys1697fs)	BRCA1	Pathogenic	17	41215952	41215952	CA	C	reviewed by expert panel	ClinGen:CA645373158
Deletion	NM_007294.4(BRCA1):c.5051del (p.Thr1684fs)	BRCA1	Pathogenic	17	41219648	41219648	AG	A	reviewed by expert panel	ClinGen:CA645373160
Deletion	NM_007294.4(BRCA1):c.4507_4511del (p.Ser1503fs)	BRCA1	Pathogenic	17	41226512	41226516	TAATGA	T	reviewed by expert panel	ClinGen:CA645373163
Deletion	NM_007294.4(BRCA1):c.4310del (p.Ser1437fs)	BRCA1	Pathogenic	17	41234468	41234468	AG	A	reviewed by expert panel	ClinGen:CA645373146
Deletion	NM_007294.4(BRCA1):c.3956_3957del (p.Gly1319fs)	BRCA1	Pathogenic	17	41243591	41243592	AAC	A	reviewed by expert panel	ClinGen:CA645373168
Deletion	NM_007294.4(BRCA1):c.3954del (p.Ile1318fs)	BRCA1	Pathogenic	17	41243594	41243594	CA	C	reviewed by expert panel	ClinGen:CA645373169