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
Duplication	NM_000059.4(BRCA2):c.4139_4140dup (p.Lys1381fs)	BRCA2	Pathogenic	13	32912630	32912631	A	ATT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4366&base_change=ins TT,ClinGen:CA019589
Deletion	NM_000059.4(BRCA2):c.4151del (p.Leu1384fs)	BRCA2	Pathogenic	13	32912641	32912641	AT	A	reviewed by expert panel	ClinGen:CA019620
Deletion	NM_000059.4(BRCA2):c.4169del (p.Leu1390fs)	BRCA2	Pathogenic	13	32912656	32912656	CT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4397&base_change=del T,ClinGen:CA019655
Deletion	NM_000059.4(BRCA2):c.4171del (p.Glu1391fs)	BRCA2	Pathogenic	13	32912662	32912662	TG	T	reviewed by expert panel	ClinGen:CA019663
Deletion	NM_000059.4(BRCA2):c.4188del (p.Glu1397fs)	BRCA2	Pathogenic	13	32912679	32912679	CA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4416&base_change=del A,ClinGen:CA019693
Deletion	NM_000059.4(BRCA2):c.4218_4221del (p.Lys1406fs)	BRCA2	Pathogenic	13	32912708	32912711	TAAAG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4446&base_change=del AGAA,ClinGen:CA019739
Deletion	NM_000059.4(BRCA2):c.4223del (p.Gln1408fs)	BRCA2	Pathogenic	13	32912715	32912715	CA	C	reviewed by expert panel	ClinGen:CA019749
Deletion	NM_000059.4(BRCA2):c.4258del (p.Asp1420fs)	BRCA2	Pathogenic	13	32912750	32912750	AG	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4486&base_change=del G,ClinGen:CA019805
Deletion	NM_000059.4(BRCA2):c.4271del (p.Ser1424fs)	BRCA2	Pathogenic	13	32912763	32912763	TC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4499&base_change=del C,ClinGen:CA019882
single nucleotide variant	NM_000059.4(BRCA2):c.4285C>T (p.Gln1429Ter)	BRCA2	Pathogenic	13	32912777	32912777	C	T	reviewed by expert panel	ClinGen:CA019916