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.6178del (p.Thr2060fs)	BRCA2	Pathogenic	13	32914670	32914670	TA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6406&base_change=del A,ClinGen:CA023722
Deletion	NM_000059.4(BRCA2):c.6198_6199del (p.Ser2067fs)	BRCA2	Pathogenic	13	32914689	32914690	GTT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6426&base_change=del TT,ClinGen:CA023731
Deletion	NM_000059.4(BRCA2):c.6201del (p.Ile2068fs)	BRCA2	Pathogenic	13	32914692	32914692	TC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6429&base_change=del C,ClinGen:CA023737
Duplication	NM_000059.4(BRCA2):c.6202dup (p.Ile2068fs)	BRCA2	Pathogenic	13	32914693	32914694	C	CA	reviewed by expert panel	ClinGen:CA023740
Deletion	NM_000059.4(BRCA2):c.6206del (p.Ile2068_Leu2069insTer)	BRCA2	Pathogenic	13	32914695	32914695	AT	A	reviewed by expert panel	ClinGen:CA023743
Deletion	NM_000059.4(BRCA2):c.6209_6212del (p.Glu2070fs)	BRCA2	Pathogenic	13	32914699	32914702	TAGAA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6437&base_change=del AAAG,ClinGen:CA023748
Deletion	NM_000059.4(BRCA2):c.6216del (p.Leu2073fs)	BRCA2	Pathogenic	13	32914707	32914707	TC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6444&base_change=del C,ClinGen:CA023764
Indel	NM_000059.4(BRCA2):c.6220_6222delinsAA (p.His2074fs)	BRCA2	Pathogenic	13	32914712	32914714	CAC	AA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6448&base_change=del CAC ins AA,ClinGen:CA023768
Deletion	NM_000059.4(BRCA2):c.6235del (p.Val2079fs)	BRCA2	Pathogenic	13	32914727	32914727	AG	A	reviewed by expert panel	ClinGen:CA023777
single nucleotide variant	NM_000059.4(BRCA2):c.6239T>G (p.Leu2080Ter)	BRCA2	Pathogenic	13	32914731	32914731	T	G	reviewed by expert panel	ClinGen:CA023781