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.3975_3978dup (p.Ala1327fs)	BRCA2	Pathogenic	13	32912466	32912467	C	CTGCT	reviewed by expert panel	ClinGen:CA019317
single nucleotide variant	NM_000059.4(BRCA2):c.3G>A (p.Met1Ile)	BRCA2	Pathogenic	13	32890600	32890600	G	A	reviewed by expert panel	ClinGen:CA019362
single nucleotide variant	NM_000059.4(BRCA2):c.4001T>A (p.Leu1334Ter)	BRCA2	Pathogenic	13	32912493	32912493	T	A	reviewed by expert panel	ClinGen:CA019375
Duplication	NM_000059.4(BRCA2):c.4005dup (p.Phe1336fs)	BRCA2	Pathogenic	13	32912495	32912496	G	GA	reviewed by expert panel	ClinGen:CA019378
Deletion	NM_000059.4(BRCA2):c.4021del (p.Ser1341fs)	BRCA2	Pathogenic	13	32912512	32912512	AT	A	reviewed by expert panel	ClinGen:CA019401
Deletion	NM_000059.4(BRCA2):c.4037_4038del (p.Thr1346fs)	BRCA2	Pathogenic	13	32912529	32912530	ACT	A	reviewed by expert panel	ClinGen:CA019413,Breast Cancer Information Core (BIC) (BRCA2):4265&base_change=del CT
Deletion	NM_000059.4(BRCA2):c.4048_4051del (p.His1350fs)	BRCA2	Pathogenic	13	32912540	32912543	TCATA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4276&base_change=del CATA,ClinGen:CA019433
Deletion	NM_000059.4(BRCA2):c.4076del (p.Thr1359fs)	BRCA2	Pathogenic	13	32912568	32912568	AC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4304&base_change=del C,ClinGen:CA019472
single nucleotide variant	NM_000059.4(BRCA2):c.4095T>A (p.Cys1365Ter)	BRCA2	Pathogenic	13	32912587	32912587	T	A	reviewed by expert panel	ClinGen:CA019517
Deletion	NM_000059.4(BRCA2):c.4095del (p.Lys1367fs)	BRCA2	Pathogenic	13	32912587	32912587	GT	G	reviewed by expert panel	ClinGen:CA019512