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.7806-1G>T	BRCA2	Pathogenic	13	32936659	32936659	G	T	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA2):8034-1&base_change=G to T,ClinGen:CA025288
single nucleotide variant	NM_000059.4(BRCA2):c.7806-2A>G	BRCA2	Pathogenic	13	32936658	32936658	A	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8034-2&base_change=A to G,ClinGen:CA025289
single nucleotide variant	NM_000059.4(BRCA2):c.7806-9T>G	BRCA2	Pathogenic	13	32936651	32936651	T	G	criteria provided, single submitter	Breast Cancer Information Core (BIC) (BRCA2):8034-9&base_change=T to G,ClinGen:CA025293
Insertion	NM_000059.4(BRCA2):c.7806_7807insAG (p.Ala2603fs)	BRCA2	Pathogenic	13	32936659	32936660	G	GGA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8034&base_change=ins AG,ClinGen:CA025291
single nucleotide variant	NM_000059.4(BRCA2):c.7826G>A (p.Gly2609Asp)	BRCA2	Likely pathogenic	13	32936680	32936680	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA025300
Deletion	NM_000059.4(BRCA2):c.7846del (p.Ser2616fs)	BRCA2	Pathogenic	13	32936698	32936698	AT	A	reviewed by expert panel	ClinGen:CA025305
Deletion	NM_000059.4(BRCA2):c.7847del (p.Ser2616fs)	BRCA2	Pathogenic	13	32936701	32936701	TC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8075&base_change=del C,ClinGen:CA025306
single nucleotide variant	NM_000059.4(BRCA2):c.7856G>A (p.Trp2619Ter)	BRCA2	Pathogenic	13	32936710	32936710	G	A	reviewed by expert panel	ClinGen:CA025309
single nucleotide variant	NM_000059.4(BRCA2):c.7863T>A (p.Tyr2621Ter)	BRCA2	Pathogenic	13	32936717	32936717	T	A	reviewed by expert panel	ClinGen:CA025312
single nucleotide variant	NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe)	BRCA2	Pathogenic	13	32936733	32936733	A	T	reviewed by expert panel	ClinGen:CA025321