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
Deletion	NM_000059.4(BRCA2):c.5820_5833del (p.Glu1940fs)	BRCA2	Pathogenic	13	32914312	32914325	GAGAAAGTTTCTAAA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6048&base_change=del 14,ClinGen:CA023268
Deletion	NM_000059.4(BRCA2):c.5823del (p.Val1942fs)	BRCA2	Pathogenic	13	32914313	32914313	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6051&base_change=del A,ClinGen:CA023272,OMIM:600185.0015
Deletion	NM_000059.4(BRCA2):c.5829_5830del (p.Lys1944fs)	BRCA2	Pathogenic	13	32914321	32914322	CTA	C	reviewed by expert panel	ClinGen:CA023278
Duplication	NM_000059.4(BRCA2):c.5835_5843dup (p.Cys1948Ter)	BRCA2	Pathogenic	13	32914326	32914327	T	TATCACCTTG	reviewed by expert panel	ClinGen:CA023293
Insertion	NM_000059.4(BRCA2):c.5836_5837insA (p.Ser1946fs)	BRCA2	Pathogenic	13	32914328	32914329	T	TA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6064&base_change=ins A,ClinGen:CA023285
Duplication	NM_000059.4(BRCA2):c.5851_5854dup (p.Leu1952Ter)	BRCA2	Pathogenic	13	32914339	32914340	T	TGTTA	reviewed by expert panel	ClinGen:CA023304
single nucleotide variant	NM_000059.4(BRCA2):c.5857G>T (p.Glu1953Ter)	BRCA2	Pathogenic	13	32914349	32914349	G	T	reviewed by expert panel	ClinGen:CA023311
Deletion	NM_000059.4(BRCA2):c.5857del (p.Glu1953fs)	BRCA2	Pathogenic	13	32914348	32914348	TG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6085&base_change=del G,ClinGen:CA023309
single nucleotide variant	NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter)	BRCA2	Pathogenic	13	32914356	32914356	C	A	reviewed by expert panel	ClinGen:CA023317
single nucleotide variant	NM_000059.4(BRCA2):c.5864C>G (p.Ser1955Ter)	BRCA2	Pathogenic	13	32914356	32914356	C	G	reviewed by expert panel	ClinGen:CA023319