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
Duplication	NM_000059.4(BRCA2):c.7340dup (p.Asn2447fs)	BRCA2	Pathogenic	13	32929330	32929330	T	TA	reviewed by expert panel	ClinGen:CA273824
single nucleotide variant	NM_000059.4(BRCA2):c.9281C>G (p.Ser3094Ter)	BRCA2	Pathogenic	13	32968850	32968850	C	G	reviewed by expert panel	ClinGen:CA026085
Deletion	NM_007298.4(BRCA1):c.1049-3_1172del	BRCA1	Pathogenic	17	41228505	41228631	CCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTG	C	reviewed by expert panel	ClinGen:CA002799
Duplication	NM_007294.4(BRCA1):c.4386dup (p.Tyr1463fs)	BRCA1	Pathogenic	17	41228602	41228603	A	AT	reviewed by expert panel	ClinGen:CA273823
Duplication	NM_007294.4(BRCA1):c.2298dup (p.Ser767Ter)	BRCA1	Pathogenic	17	41245250	41245250	T	TA	reviewed by expert panel	ClinGen:CA026480
Deletion	NM_007294.4(BRCA1):c.984_988del (p.Cys328_Asp330delinsTer)	BRCA1	Pathogenic	17	41246560	41246564	TCATTA	T	reviewed by expert panel	ClinGen:CA003998
Deletion	NM_007294.4(BRCA1):c.885_886del (p.Asp295fs)	BRCA1	Pathogenic	17	41246662	41246663	CTG	C	reviewed by expert panel	ClinGen:CA003946
Deletion	NM_000059.4(BRCA2):c.5723_5727del (p.Leu1908fs)	BRCA2	Pathogenic	13	32914215	32914219	CTAGAT	C	reviewed by expert panel	ClinGen:CA023049
Indel	NM_000059.4(BRCA2):c.5595_5596delinsC (p.Phe1866fs)	BRCA2	Pathogenic	13	32914087	32914088	AT	C	reviewed by expert panel	ClinGen:CA280073
Deletion	NM_007294.4(BRCA1):c.594_597delTGTG	BRCA1	Pathogenic/Likely pathogenic	17	41247936	41247939	CCACA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA276117,OMIM:113705.0041