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.3779T>G (p.Leu1260Ter)	BRCA1	Pathogenic	17	41243769	41243769	A	C	reviewed by expert panel	ClinGen:CA10586617
Deletion	NM_007294.4(BRCA1):c.3770_3777del (p.Glu1257fs)	BRCA1	Pathogenic	17	41243771	41243778	AATTCTCCT	A	reviewed by expert panel	ClinGen:CA10586618
single nucleotide variant	NM_007294.4(BRCA1):c.3697A>T (p.Lys1233Ter)	BRCA1	Pathogenic	17	41243851	41243851	T	A	reviewed by expert panel	ClinGen:CA10586620
Deletion	NM_007294.4(BRCA1):c.3695del (p.Gly1232fs)	BRCA1	Pathogenic	17	41243853	41243853	AC	A	reviewed by expert panel	ClinGen:CA10586621
single nucleotide variant	NM_007294.4(BRCA1):c.3635C>G (p.Ser1212Ter)	BRCA1	Pathogenic	17	41243913	41243913	G	C	reviewed by expert panel	ClinGen:CA10586622
Deletion	NM_007294.4(BRCA1):c.3624del (p.Lys1208fs)	BRCA1	Pathogenic	17	41243924	41243924	AT	A	reviewed by expert panel	ClinGen:CA10586623
Deletion	NM_007294.4(BRCA1):c.3616del (p.Ala1206fs)	BRCA1	Pathogenic	17	41243932	41243932	GC	G	reviewed by expert panel	ClinGen:CA10586624
Duplication	NM_007294.4(BRCA1):c.3592_3593dup (p.Leu1198fs)	BRCA1	Pathogenic	17	41243954	41243955	C	CAA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3712&base_change=ins TT,ClinGen:CA002291
Deletion	NM_007294.4(BRCA1):c.3570del (p.Ser1191fs)	BRCA1	Pathogenic	17	41243978	41243978	TA	T	reviewed by expert panel	ClinGen:CA10586625
Indel	NM_007294.4(BRCA1):c.3547_3550delinsGAT (p.Lys1183fs)	BRCA1	Pathogenic	17	41243998	41244001	CTTT	ATC	reviewed by expert panel	ClinGen:CA10586626