家族性膵がん - MGenReviews

家族性膵がん

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.4936_4939del (p.Glu1646fs)	BRCA2	Pathogenic	13	32913425	32913428	AAAAG	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5164&base_change=del GAAA,ClinGen:CA021036
single nucleotide variant	NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter)	BRCA2	Pathogenic	13	32913457	32913457	C	G	reviewed by expert panel	ClinGen:CA021070
single nucleotide variant	NM_000059.4(BRCA2):c.5000C>G (p.Ser1667Ter)	BRCA2	Pathogenic	13	32913492	32913492	C	G	reviewed by expert panel	ClinGen:CA021122
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