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.89T>A (p.Leu30Ter)	BRCA1	Pathogenic	17	41267788	41267788	A	T	reviewed by expert panel	ClinGen:CA003955
single nucleotide variant	NM_007294.4(BRCA1):c.8T>G (p.Leu3Ter)	BRCA1	Pathogenic	17	41276106	41276106	A	C	reviewed by expert panel	ClinGen:CA003956
Deletion	NM_007294.4(BRCA1):c.904del (p.Ala302fs)	BRCA1	Pathogenic	17	41246644	41246644	GC	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1023&base_change=del G,ClinGen:CA003960
Deletion	NM_007294.4(BRCA1):c.909del (p.Glu303fs)	BRCA1	Pathogenic	17	41246639	41246639	AT	A	reviewed by expert panel	ClinGen:CA003961
Deletion	NM_007294.4(BRCA1):c.911del (p.Phe304fs)	BRCA1	Pathogenic	17	41246637	41246637	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1030&base_change=del T,ClinGen:CA003962
Deletion	NM_007294.4(BRCA1):c.922_923del (p.Ser308fs)	BRCA1	Pathogenic	17	41246625	41246626	GCT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1041&base_change=del AG,ClinGen:CA003963
Indel	NM_007294.4(BRCA1):c.922_924delinsT (p.Lys307_Ser308insTer)	BRCA1	Pathogenic	17	41246624	41246626	GCT	A	reviewed by expert panel	ClinGen:CA003964
Deletion	NM_007294.4(BRCA1):c.923del (p.Ser308fs)	BRCA1	Pathogenic	17	41246625	41246625	GC	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1042&base_change=del G,ClinGen:CA003965
Deletion	NM_007294.4(BRCA1):c.924del (p.Ser308fs)	BRCA1	Pathogenic	17	41246624	41246624	TG	T	reviewed by expert panel	ClinGen:CA003967
Deletion	NM_007294.4(BRCA1):c.927del (p.Lys309fs)	BRCA1	Pathogenic	17	41246621	41246621	GT	G	reviewed by expert panel	ClinGen:CA003971