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
Insertion	NM_000059.4(BRCA2):c.4160_4161insGGAAG (p.Thr1388fs)	BRCA2	Pathogenic	13	32912652	32912653	T	TGGAAG	reviewed by expert panel	-
Deletion	NM_000059.4(BRCA2):c.4353_4359del (p.Pro1454fs)	BRCA2	Pathogenic	13	32912844	32912850	GATCAGAA	G	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.4401_4402insA (p.Ser1468fs)	BRCA2	Pathogenic	13	32912893	32912894	T	TA	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.4505_4506insT (p.Gln1502fs)	BRCA2	Pathogenic	13	32912997	32912998	A	AT	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.4539_4540insCGAT (p.Glu1514delinsArgTer)	BRCA2	Pathogenic	13	32913028	32913029	T	TGATC	reviewed by expert panel	-
Deletion	NM_000059.4(BRCA2):c.4654_4657del (p.Gly1552fs)	BRCA2	Pathogenic	13	32913145	32913148	AAGGT	A	reviewed by expert panel	-
Duplication	NM_000059.4(BRCA2):c.4731dup (p.Leu1578fs)	BRCA2	Pathogenic	13	32913221	32913222	G	GA	reviewed by expert panel	ClinGen:CA020718
Deletion	NM_000059.4(BRCA2):c.4936del (p.Glu1646fs)	BRCA2	Pathogenic	13	32913428	32913428	AG	A	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.4975_4976insG (p.Ser1659fs)	BRCA2	Pathogenic	13	32913467	32913468	T	TG	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.4980_4981insG (p.Tyr1661fs)	BRCA2	Pathogenic	13	32913472	32913473	T	TG	reviewed by expert panel	-