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.1188del (p.Asp396fs)	BRCA1	Pathogenic	17	41246360	41246360	CA	C	reviewed by expert panel	ClinGen:CA000784
single nucleotide variant	NM_007294.4(BRCA1):c.1193C>A (p.Ser398Ter)	BRCA1	Pathogenic	17	41246355	41246355	G	T	reviewed by expert panel	ClinGen:CA000785
single nucleotide variant	NM_007294.4(BRCA1):c.1193C>G (p.Ser398Ter)	BRCA1	Pathogenic	17	41246355	41246355	G	C	reviewed by expert panel	ClinGen:CA000786
single nucleotide variant	NM_007294.4(BRCA1):c.1204G>T (p.Glu402Ter)	BRCA1	Pathogenic	17	41246344	41246344	C	A	reviewed by expert panel	ClinGen:CA000794
Deletion	NM_007294.4(BRCA1):c.1204del (p.Glu402fs)	BRCA1	Pathogenic	17	41246344	41246344	TC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1323&base_change=del G,ClinGen:CA000793
single nucleotide variant	NM_007294.4(BRCA1):c.1214C>A (p.Ser405Ter)	BRCA1	Pathogenic	17	41246334	41246334	G	T	reviewed by expert panel	ClinGen:CA000796
Deletion	NM_007294.4(BRCA1):c.1217del (p.Asn406fs)	BRCA1	Pathogenic	17	41246331	41246331	AT	A	reviewed by expert panel	ClinGen:CA000800
single nucleotide variant	NM_007294.4(BRCA1):c.122A>G (p.His41Arg)	BRCA1	Pathogenic	17	41267755	41267755	T	C	reviewed by expert panel	BRCA1-HCI:BRCA1_00130,ClinGen:CA000805
Deletion	NM_007294.4(BRCA1):c.122del (p.His41fs)	BRCA1	Pathogenic	17	41267755	41267755	GT	G	reviewed by expert panel	ClinGen:CA000806
Deletion	NM_007294.4(BRCA1):c.1232_1233del (p.Asp411fs)	BRCA1	Pathogenic	17	41246315	41246316	CAT	C	reviewed by expert panel	ClinGen:CA000808