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.5362G>T (p.Gly1788Cys)	BRCA1	Likely pathogenic	17	41201182	41201182	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA003528
Deletion	NM_007294.4(BRCA1):c.5369_5385del (p.Ser1790fs)	BRCA1	Pathogenic	17	41201159	41201175	AAAGCTCCTTCACCACAG	A	reviewed by expert panel	ClinGen:CA003534
Deletion	NM_007294.4(BRCA1):c.536del (p.Tyr179fs)	BRCA1	Pathogenic	17	41251803	41251803	GT	G	reviewed by expert panel	ClinGen:CA003537
single nucleotide variant	NM_007294.4(BRCA1):c.5377A>T (p.Lys1793Ter)	BRCA1	Pathogenic	17	41201167	41201167	T	A	reviewed by expert panel	ClinGen:CA003540
Duplication	NM_007294.4(BRCA1):c.5386dup (p.Ser1796fs)	BRCA1	Pathogenic	17	41201157	41201158	G	GA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5502&base_change=ins T,ClinGen:CA268393
single nucleotide variant	NM_007294.4(BRCA1):c.53T>A (p.Met18Lys)	BRCA1	Pathogenic/Likely pathogenic	17	41276061	41276061	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA003549
Deletion	NM_007294.4(BRCA1):c.5406+1_5406+3del	BRCA1	Pathogenic/Likely pathogenic	17	41201135	41201137	TTAC	T	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):5525+1&base_change=del GTA,ClinGen:CA003553
single nucleotide variant	NM_007294.4(BRCA1):c.5406+3A>T	BRCA1	Pathogenic	17	41201135	41201135	T	A	criteria provided, single submitter	ClinGen:CA003556
single nucleotide variant	NM_007294.4(BRCA1):c.5406+4A>G	BRCA1	Pathogenic/Likely pathogenic	17	41201134	41201134	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA003557
single nucleotide variant	NM_007294.4(BRCA1):c.5406+5G>A	BRCA1	Pathogenic/Likely pathogenic	17	41201133	41201133	C	T	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):5525+5&base_change=G to A,ClinGen:CA003559