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.3170_3174del (p.Lys1057fs)	BRCA2	Pathogenic	13	32911659	32911663	CAAAAG	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3398&base_change=del AGAAA,ClinGen:CA017423
Deletion	NM_000059.4(BRCA2):c.3182del (p.Lys1061fs)	BRCA2	Pathogenic	13	32911673	32911673	CA	C	reviewed by expert panel	ClinGen:CA017486
Duplication	NM_000059.4(BRCA2):c.3264dup (p.Gln1089fs)	BRCA2	Pathogenic	13	32911755	32911756	C	CT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3492&base_change=ins T,ClinGen:CA017653
single nucleotide variant	NM_000059.4(BRCA2):c.3308T>G (p.Leu1103Ter)	BRCA2	Pathogenic	13	32911800	32911800	T	G	reviewed by expert panel	ClinGen:CA017759
Deletion	NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer)	BRCA2	Pathogenic	13	32912036	32912037	ATT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3773&base_change=del TT,ClinGen:CA018299
Deletion	NM_000059.4(BRCA2):c.3689del (p.Ser1230fs)	BRCA2	Pathogenic	13	32912181	32912181	TC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3917&base_change=del C,ClinGen:CA018587
Deletion	NM_000059.4(BRCA2):c.3717del (p.Lys1239fs)	BRCA2	Pathogenic	13	32912207	32912207	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3945&base_change=del A,ClinGen:CA018654
Deletion	NM_000059.4(BRCA2):c.3744_3747del (p.Ser1248fs)	BRCA2	Pathogenic	13	32912234	32912237	TAGTG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3972&base_change=del TGAG,ClinGen:CA018693
Deletion	NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs)	BRCA2	Pathogenic	13	32912338	32912339	CTG	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4075&base_change=del GT,ClinGen:CA018922
Duplication	NM_000059.4(BRCA2):c.3848dup (p.Ser1284fs)	BRCA2	Pathogenic	13	32912339	32912340	G	GT	reviewed by expert panel	ClinGen:CA018945