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.1231del (p.Ile411fs)	BRCA2	Pathogenic	13	32906843	32906843	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1459&base_change=del A,ClinGen:CA011252
Duplication	NM_000059.4(BRCA2):c.1362dup (p.Ser455fs)	BRCA2	Pathogenic	13	32906973	32906974	C	CA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1590&base_change=ins A,ClinGen:CA011750
Duplication	NM_000059.4(BRCA2):c.1408dup (p.Glu470fs)	BRCA2	Pathogenic	13	32907022	32907023	T	TG	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1636&base_change=ins G,ClinGen:CA011946
Duplication	NM_000059.4(BRCA2):c.1542dup (p.Thr515fs)	BRCA2	Pathogenic	13	32907156	32907157	A	AG	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1769&base_change=ins G,ClinGen:CA012337
Duplication	NM_000059.4(BRCA2):c.1608dup (p.Glu537Ter)	BRCA2	Pathogenic	13	32907222	32907223	C	CT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1835&base_change=ins T,ClinGen:CA012621
Duplication	NM_000059.4(BRCA2):c.1648dup (p.Glu550fs)	BRCA2	Pathogenic	13	32907261	32907262	A	AG	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1876&base_change=ins G,ClinGen:CA012780
Insertion	NM_000059.4(BRCA2):c.1854_1855insA (p.Gln619fs)	BRCA2	Pathogenic	13	32907469	32907470	C	CA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):2082&base_change=ins A,ClinGen:CA013606
Duplication	NM_000059.4(BRCA2):c.2212dup (p.Cys738fs)	BRCA2	Pathogenic	13	32910703	32910704	A	AT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):2440&base_change=ins T,ClinGen:CA014625
Insertion	NM_000059.4(BRCA2):c.37_38insT (p.Glu13fs)	BRCA2	Pathogenic	13	32890634	32890635	G	GT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):265&base_change=ins T,ClinGen:CA018683
Duplication	NM_000059.4(BRCA2):c.2439dup (p.Pro814fs)	BRCA2	Pathogenic	13	32910929	32910930	A	AT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):2667&base_change=ins T,ClinGen:CA015262