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.4424dup (p.Met1475fs)	BRCA2	Pathogenic	13	32912915	32912916	A	AT	reviewed by expert panel	ClinGen:CA10589259
Deletion	NM_000059.4(BRCA2):c.4429del (p.Ile1477fs)	BRCA2	Pathogenic	13	32912921	32912921	CA	C	reviewed by expert panel	ClinGen:CA10589260
Deletion	NM_000059.4(BRCA2):c.4458del (p.Lys1487fs)	BRCA2	Pathogenic	13	32912949	32912949	GT	G	reviewed by expert panel	ClinGen:CA10589261
Indel	NM_000059.4(BRCA2):c.4467_4474delinsTGTTTTT (p.Lys1489fs)	BRCA2	Pathogenic	13	32912959	32912966	AATACTGA	TGTTTTT	reviewed by expert panel	ClinGen:CA10589262
Deletion	NM_000059.4(BRCA2):c.4476del (p.Glu1493fs)	BRCA2	Pathogenic	13	32912966	32912966	GA	G	reviewed by expert panel	ClinGen:CA10589263
Duplication	NM_000059.4(BRCA2):c.4476dup (p.Glu1493fs)	BRCA2	Pathogenic	13	32912965	32912966	G	GA	reviewed by expert panel	ClinGen:CA10589264
Deletion	NM_000059.4(BRCA2):c.4513del (p.Thr1505fs)	BRCA2	Pathogenic	13	32913005	32913005	GA	G	reviewed by expert panel	ClinGen:CA10589265
Deletion	NM_000059.4(BRCA2):c.4530del (p.Glu1511fs)	BRCA2	Pathogenic	13	32913020	32913020	AC	A	reviewed by expert panel	ClinGen:CA10589266
Insertion	NM_000059.4(BRCA2):c.4540_4541insCGAT (p.Glu1514fs)	BRCA2	Pathogenic	13	32913032	32913033	G	GCGAT	reviewed by expert panel	ClinGen:CA10589267
Duplication	NM_000059.4(BRCA2):c.4576dup (p.Thr1526fs)	BRCA2	Pathogenic	13	32913067	32913068	T	TA	reviewed by expert panel	ClinGen:CA10589268