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.2481del (p.Gly828fs)	BRCA1	Pathogenic	17	41245067	41245067	CT	C	reviewed by expert panel	ClinGen:CA10589849
Deletion	NM_007294.4(BRCA1):c.2473del (p.Asp825fs)	BRCA1	Pathogenic	17	41245075	41245075	TC	T	reviewed by expert panel	ClinGen:CA10589850
Insertion	NM_007294.4(BRCA1):c.2442_2443insT (p.Ile815fs)	BRCA1	Pathogenic	17	41245105	41245106	T	TA	reviewed by expert panel	ClinGen:CA10589851
Duplication	NM_007294.4(BRCA1):c.2429dup (p.Asn810fs)	BRCA1	Pathogenic	17	41245118	41245119	G	GT	reviewed by expert panel	ClinGen:CA10589852
Duplication	NM_007294.4(BRCA1):c.2418dup (p.Ala807fs)	BRCA1	Pathogenic	17	41245129	41245130	C	CT	reviewed by expert panel	ClinGen:CA10589853
Deletion	NM_007294.4(BRCA1):c.2398_2411del (p.Lys800fs)	BRCA1	Pathogenic	17	41245137	41245150	CTGACTCACACATTT	C	reviewed by expert panel	ClinGen:CA10589854
Deletion	NM_007294.4(BRCA1):c.2411del (p.Gln804fs)	BRCA1	Pathogenic	17	41245137	41245137	CT	C	reviewed by expert panel	ClinGen:CA10589855
Deletion	NM_007294.4(BRCA1):c.2396del (p.Asn799fs)	BRCA1	Pathogenic	17	41245152	41245152	AT	A	reviewed by expert panel	ClinGen:CA10589856
Duplication	NM_007294.4(BRCA1):c.2387dup (p.Glu797fs)	BRCA1	Pathogenic	17	41245160	41245161	T	TG	reviewed by expert panel	ClinGen:CA10589857
Deletion	NM_007294.4(BRCA1):c.2368_2369del (p.Thr790fs)	BRCA1	Pathogenic	17	41245179	41245180	AGT	A	reviewed by expert panel	ClinGen:CA10589858