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.5525del (p.Val1842fs)	BRCA1	Pathogenic	17	41197762	41197762	TA	T	reviewed by expert panel	ClinGen:CA348508
single nucleotide variant	NM_007294.4(BRCA1):c.5152+5G>C	BRCA1	Pathogenic	17	41215886	41215886	C	G	criteria provided, single submitter	ClinGen:CA348506
Duplication	NM_007294.4(BRCA1):c.4709dup (p.Phe1571fs)	BRCA1	Pathogenic	17	41223221	41223222	G	GA	reviewed by expert panel	ClinGen:CA348034
Duplication	NM_007294.4(BRCA1):c.2378dup (p.Ala794fs)	BRCA1	Pathogenic	17	41245169	41245170	C	CT	reviewed by expert panel	ClinGen:CA348790
Duplication	NM_007294.4(BRCA1):c.531dup (p.Val178fs)	BRCA1	Pathogenic	17	41251807	41251808	C	CA	reviewed by expert panel	ClinGen:CA348159
single nucleotide variant	NM_007294.4(BRCA1):c.287A>G (p.Asp96Gly)	BRCA1	Pathogenic/Likely pathogenic	17	41256899	41256899	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA348195
Deletion	NM_000059.4(BRCA2):c.4963del (p.Tyr1655fs)	BRCA2	Pathogenic	13	32913454	32913454	GT	G	reviewed by expert panel	ClinGen:CA10575849
single nucleotide variant	NM_000059.4(BRCA2):c.67+1G>C	BRCA2	Pathogenic/Likely pathogenic	13	32890665	32890665	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10575902
Deletion	NM_000059.4(BRCA2):c.161del (p.Asn54fs)	BRCA2	Pathogenic	13	32893303	32893303	TA	T	reviewed by expert panel	ClinGen:CA10575903
Deletion	NM_000059.4(BRCA2):c.1190_1197del (p.Gln397fs)	BRCA2	Pathogenic	13	32906804	32906811	TCAACTAAC	T	criteria provided, single submitter	ClinGen:CA10575906