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_000059.4(BRCA2):c.5035del (p.Thr1679fs)	BRCA2	Pathogenic	13	32913523	32913523	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5263&base_change=del A,ClinGen:CA021168
Duplication	NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs)	BRCA2	Pathogenic	13	32913565	32913565	C	CA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5301&base_change=ins A,ClinGen:CA021207
single nucleotide variant	NM_000059.4(BRCA2):c.5080A>T (p.Arg1694Ter)	BRCA2	Pathogenic	13	32913572	32913572	A	T	reviewed by expert panel	ClinGen:CA021220
Deletion	NM_000059.4(BRCA2):c.518del (p.Gly173Valfs)	BRCA2	Pathogenic	13	32900635	32900635	AG	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):746&base_change=del G,ClinGen:CA021628
Deletion	NM_000059.4(BRCA2):c.5213_5216del (p.Thr1738fs)	BRCA2	Pathogenic	13	32913703	32913706	ATACT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5441&base_change=del CTTA,ClinGen:CA021707
Duplication	NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter)	BRCA2	Pathogenic	13	32913730	32913730	C	CT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5466&base_change=ins T,ClinGen:CA021826
Deletion	NM_000059.4(BRCA2):c.5266_5269del (p.Val1756fs)	BRCA2	Pathogenic	13	32913758	32913761	GGTAT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5494&base_change=del GTAT,ClinGen:CA021880
Deletion	NM_000059.4(BRCA2):c.5303_5304del (p.Leu1768fs)	BRCA2	Pathogenic	13	32913795	32913796	CTT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5531&base_change=del TT,ClinGen:CA021993
Deletion	NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs)	BRCA2	Pathogenic	13	32913837	32913838	CAA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5578&base_change=del AA,ClinGen:CA022093
Duplication	NM_000059.4(BRCA2):c.5351dup (p.Asn1784fs)	BRCA2	Pathogenic	13	32913836	32913837	C	CA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5579&base_change=ins A,ClinGen:CA022104