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.1817del (p.Pro606fs)	BRCA1	Pathogenic	17	41245731	41245731	AG	A	reviewed by expert panel	ClinGen:CA001177
single nucleotide variant	NM_007294.4(BRCA1):c.1819A>T (p.Lys607Ter)	BRCA1	Pathogenic	17	41245729	41245729	T	A	reviewed by expert panel	ClinGen:CA001178
single nucleotide variant	NM_007294.4(BRCA1):c.181T>A (p.Cys61Ser)	BRCA1	Pathogenic	17	41258504	41258504	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA001180
single nucleotide variant	NM_007294.4(BRCA1):c.181T>C (p.Cys61Arg)	BRCA1	Pathogenic/Likely pathogenic	17	41258504	41258504	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA001181
Deletion	NM_007294.4(BRCA1):c.1823_1826del (p.Lys608fs)	BRCA1	Pathogenic	17	41245722	41245725	ATTCT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1492&base_change=del AGAA,Breast Cancer Information Core (BIC) (BRCA1):1940&base_change=del AAAG,Breast Cancer Information Core (BIC) (BRCA1):1942&base_change=del AGAA,ClinGen:CA001184
Deletion	NM_007294.4(BRCA1):c.1823del (p.Lys608fs)	BRCA1	Pathogenic	17	41245725	41245725	CT	C	reviewed by expert panel	ClinGen:CA001185
single nucleotide variant	NM_007294.4(BRCA1):c.182G>A (p.Cys61Tyr)	BRCA1	Pathogenic	17	41258503	41258503	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA001191
Deletion	NM_007294.4(BRCA1):c.1831del (p.Arg610_Leu611insTer)	BRCA1	Pathogenic	17	41245717	41245717	AG	A	reviewed by expert panel	ClinGen:CA001193
Deletion	NM_007294.4(BRCA1):c.1837del (p.Arg613fs)	BRCA1	Pathogenic	17	41245711	41245711	CT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1956&base_change=del A,ClinGen:CA001197
single nucleotide variant	NM_007294.4(BRCA1):c.1840A>T (p.Lys614Ter)	BRCA1	Pathogenic	17	41245708	41245708	T	A	reviewed by expert panel	ClinGen:CA001199