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
Duplication	NM_000059.4(BRCA2):c.7816_7819dup (p.Thr2607fs)	BRCA2	Pathogenic	13	32936669	32936670	T	TGACA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8047&base_change=ins GACA,ClinGen:CA025297
Indel	NM_000059.4(BRCA2):c.7921_7926delGAATTTinsAG	BRCA2	Pathogenic	13	32936775	32936780	GAATTT	AG	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8149&base_change=del 6 ins AG,ClinGen:CA025336
single nucleotide variant	NM_000059.4(BRCA2):c.7977-1G>T	BRCA2	Pathogenic/Likely pathogenic	13	32937315	32937315	G	T	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA2):8205-1&base_change=G to T,ClinGen:CA025373
single nucleotide variant	NM_000059.4(BRCA2):c.7977-2A>T	BRCA2	Pathogenic	13	32937314	32937314	A	T	criteria provided, single submitter	Breast Cancer Information Core (BIC) (BRCA2):8205-2&base_change=A to T,ClinGen:CA025374
Insertion	NM_000059.4(BRCA2):c.8208_8209insAG (p.Leu2737fs)	BRCA2	Pathogenic	13	32937547	32937548	C	CAG	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8436&base_change=ins AG,ClinGen:CA025517
Duplication	NM_000059.4(BRCA2):c.8219dup (p.Leu2740fs)	BRCA2	Pathogenic	13	32937556	32937557	C	CT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8447&base_change=ins T,ClinGen:CA025522
Insertion	NM_000059.3(BRCA2):c.8278_8279ins71 (p.?)	BRCA2	Pathogenic	13	32937617	32937618	na	na	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA2):8506&base_change=ins 71
Duplication	NM_000059.4(BRCA2):c.8323dup (p.Met2775fs)	BRCA2	Pathogenic	13	32937661	32937662	T	TA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8551&base_change=ins A,ClinGen:CA025571
Deletion	NM_000059.4(BRCA2):c.8578_8579del (p.Lys2860fs)	BRCA2	Pathogenic	13	32945181	32945182	CAA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8806&base_change=del AA,ClinGen:CA025720
Duplication	NM_000059.4(BRCA2):c.8745_8748dup (p.Glu2918fs)	BRCA2	Pathogenic	13	32950917	32950918	G	GCTTA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8976&base_change=ins TTAC,ClinGen:CA025800