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.4684C>T (p.Gln1562Ter)	BRCA2	Pathogenic	13	32913176	32913176	C	T	reviewed by expert panel	ClinGen:CA020641
Duplication	NM_000059.4(BRCA2):c.4695_4698dup (p.Leu1567fs)	BRCA2	Pathogenic	13	32913186	32913187	A	AGACC	reviewed by expert panel	ClinGen:CA020665
Deletion	NM_000059.4(BRCA2):c.469_470del (p.Lys157fs)	BRCA2	Pathogenic	13	32900281	32900282	TAA	T	reviewed by expert panel	ClinGen:CA020654
Deletion	NM_000059.4(BRCA2):c.470_474del (p.Lys157fs)	BRCA2	Pathogenic	13	32900281	32900285	TAAGTC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):698&base_change=del AGTCA,ClinGen:CA020691
Indel	NM_000059.4(BRCA2):c.4731_4736delinsG (p.Leu1578fs)	BRCA2	Pathogenic	13	32913223	32913228	ATTAGC	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4959&base_change=del ATTAGC ins G,ClinGen:CA020725
Insertion	NM_000059.4(BRCA2):c.4742_4743insTG (p.Glu1581fs)	BRCA2	Pathogenic	13	32913234	32913235	A	ATG	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4970&base_change=ins TG,ClinGen:CA020745
single nucleotide variant	NM_000059.4(BRCA2):c.475+1G>A	BRCA2	Pathogenic	13	32900288	32900288	G	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):703+1&base_change=G to A,ClinGen:CA020753
single nucleotide variant	NM_000059.4(BRCA2):c.475+1G>T	BRCA2	Pathogenic	13	32900288	32900288	G	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):703+1&base_change=G to T,ClinGen:CA020757
single nucleotide variant	NM_000059.4(BRCA2):c.475G>A (p.Val159Met)	BRCA2	Pathogenic/Likely pathogenic	13	32900287	32900287	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA020781
Deletion	NM_000059.4(BRCA2):c.4766del (p.Pro1589fs)	BRCA2	Pathogenic	13	32913255	32913255	GC	G	reviewed by expert panel	ClinGen:CA020807