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
single nucleotide variant	NM_000059.4(BRCA2):c.2T>C (p.Met1Thr)	BRCA2	Pathogenic/Likely pathogenic	13	32890599	32890599	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA017005
single nucleotide variant	NM_000059.4(BRCA2):c.2T>G (p.Met1Arg)	BRCA2	Pathogenic	13	32890599	32890599	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA017013
Duplication	NM_000059.4(BRCA2):c.3014_3015dup (p.Gly1006fs)	BRCA2	Pathogenic	13	32911503	32911504	G	GTT	reviewed by expert panel	ClinGen:CA017053
Deletion	NM_000059.4(BRCA2):c.3018del (p.Gly1007fs)	BRCA2	Pathogenic	13	32911510	32911510	GA	G	reviewed by expert panel	ClinGen:CA017059
single nucleotide variant	NM_000059.4(BRCA2):c.3043A>T (p.Lys1015Ter)	BRCA2	Pathogenic	13	32911535	32911535	A	T	reviewed by expert panel	ClinGen:CA017082
Deletion	NM_000059.4(BRCA2):c.3051del (p.Lys1018fs)	BRCA2	Pathogenic	13	32911543	32911543	TC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3279&base_change=del C,ClinGen:CA017092
Duplication	NM_000059.4(BRCA2):c.3068dup (p.Asn1023fs)	BRCA2	Pathogenic	13	32911558	32911559	T	TA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3295&base_change=ins A,ClinGen:CA017127,OMIM:600185.0011
Duplication	NM_000059.4(BRCA2):c.306dup (p.Leu103fs)	BRCA2	Pathogenic	13	32893449	32893450	C	CA	reviewed by expert panel	ClinGen:CA017123
single nucleotide variant	NM_000059.4(BRCA2):c.3076A>T (p.Lys1026Ter)	BRCA2	Pathogenic	13	32911568	32911568	A	T	reviewed by expert panel	ClinGen:CA017194
Indel	NM_000059.4(BRCA2):c.3096_3110delinsT (p.Lys1032fs)	BRCA2	Pathogenic	13	32911588	32911602	AGATATTGAAGAACA	T	reviewed by expert panel	ClinGen:CA017232