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.2222_2223del (p.Val740_Ser741insTer)	BRCA1	Pathogenic	17	41245325	41245326	TAG	T	reviewed by expert panel	ClinGen:CA10589869
Duplication	NM_007294.4(BRCA1):c.2223dup (p.Asn742Ter)	BRCA1	Pathogenic	17	41245324	41245325	T	TA	reviewed by expert panel	ClinGen:CA10589870
Duplication	NM_007294.4(BRCA1):c.2155_2221dup (p.Ser741Ter)	BRCA1	Pathogenic	17	41245326	41245327	G	GACACTTTAACTGTTTCTAGTTTCTCTTCTTTTTCTTCTCTTGGAAGGCTAGGATTGACAAATTCTTT	reviewed by expert panel	ClinGen:CA10589871
Indel	NM_007294.4(BRCA1):c.2214_2218delinsAAA (p.Lys739fs)	BRCA1	Pathogenic	17	41245330	41245334	CTTTA	TTT	reviewed by expert panel	ClinGen:CA10589872
Deletion	NM_007294.4(BRCA1):c.2218del (p.Val740fs)	BRCA1	Pathogenic	17	41245330	41245330	AC	A	reviewed by expert panel	ClinGen:CA10589873
Duplication	NM_007294.4(BRCA1):c.2211dup (p.Val738fs)	BRCA1	Pathogenic	17	41245336	41245337	C	CT	reviewed by expert panel	ClinGen:CA10589874
Deletion	NM_007294.4(BRCA1):c.2205del (p.Glu736fs)	BRCA1	Pathogenic	17	41245343	41245343	CT	C	reviewed by expert panel	ClinGen:CA10589875
Duplication	NM_007294.4(BRCA1):c.2202dup (p.Leu735fs)	BRCA1	Pathogenic	17	41245345	41245346	G	GT	reviewed by expert panel	ClinGen:CA10589876
Duplication	NM_007294.4(BRCA1):c.2198dup (p.Lys734fs)	BRCA1	Pathogenic	17	41245349	41245350	C	CT	reviewed by expert panel	ClinGen:CA10589877
Indel	NM_007294.4(BRCA1):c.2195_2196delinsG (p.Glu732fs)	BRCA1	Pathogenic	17	41245352	41245353	TT	C	reviewed by expert panel	ClinGen:CA10589878