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
Deletion	NM_007294.4(BRCA1):c.3384_3391del (p.Leu1128_Ile1129insTer)	BRCA1	Pathogenic	17	41244157	41244164	TCTGAAATC	T	reviewed by expert panel	ClinGen:CA10589758
Deletion	NM_007294.4(BRCA1):c.3388del (p.Ser1130fs)	BRCA1	Pathogenic	17	41244160	41244160	GA	G	reviewed by expert panel	ClinGen:CA10589759
single nucleotide variant	NM_007294.4(BRCA1):c.3381T>G (p.Tyr1127Ter)	BRCA1	Pathogenic	17	41244167	41244167	A	C	reviewed by expert panel	ClinGen:CA10589760
Duplication	NM_007294.4(BRCA1):c.3373dup (p.Ser1125fs)	BRCA1	Pathogenic	17	41244174	41244175	G	GA	reviewed by expert panel	ClinGen:CA10589761
Deletion	NM_007294.4(BRCA1):c.3358_3368del (p.Val1120fs)	BRCA1	Pathogenic	17	41244180	41244190	ATCTGTATTAAC	A	reviewed by expert panel	ClinGen:CA10589762
Duplication	NM_007294.4(BRCA1):c.3360dup (p.Asn1121Ter)	BRCA1	Pathogenic	17	41244187	41244188	T	TA	reviewed by expert panel	ClinGen:CA10589763
Deletion	NM_007294.4(BRCA1):c.3339_3341del (p.Tyr1113_Glu1114delinsTer)	BRCA1	Pathogenic	17	41244207	41244209	TTCA	T	reviewed by expert panel	ClinGen:CA10589764
Deletion	NM_007294.4(BRCA1):c.3331_3335del (p.Gln1111fs)	BRCA1	Pathogenic	17	41244213	41244217	TTCTTG	T	reviewed by expert panel	ClinGen:CA10589765
Deletion	NM_007294.4(BRCA1):c.3331del (p.Gln1111fs)	BRCA1	Pathogenic	17	41244217	41244217	TG	T	reviewed by expert panel	ClinGen:CA10589766
Insertion	NM_007294.4(BRCA1):c.3308_3309insC (p.Cys1103_Lys1104insTer)	BRCA1	Pathogenic	17	41244239	41244240	A	AG	reviewed by expert panel	ClinGen:CA10589767