家族性膵がん - MGenReviews

家族性膵がん

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.8195_8202del (p.Leu2732fs)	BRCA2	Pathogenic	13	32937533	32937540	GTTAGATCC	G	reviewed by expert panel	ClinGen:CA10589472
Deletion	NM_000059.4(BRCA2):c.8201del (p.Pro2734fs)	BRCA2	Pathogenic	13	32937539	32937539	TC	T	reviewed by expert panel	ClinGen:CA10589473
Deletion	NM_000059.4(BRCA2):c.8238_8241del (p.Gly2748fs)	BRCA2	Pathogenic	13	32937577	32937580	CAGTT	C	reviewed by expert panel	ClinGen:CA10589474
Indel	NM_000059.3(BRCA2):c.8272_8273delinsTA (p.Leu2758Ter)	BRCA2	Pathogenic	13	32937611	32937612	CT	TA	reviewed by expert panel	ClinGen:CA10589475
Deletion	NM_000059.4(BRCA2):c.8276_8279del (p.Val2759fs)	BRCA2	Pathogenic	13	32937613	32937616	TGGTG	T	reviewed by expert panel	ClinGen:CA10589476
Duplication	NM_000059.4(BRCA2):c.8290dup (p.Ala2764fs)	BRCA2	Pathogenic	13	32937628	32937629	T	TG	reviewed by expert panel	ClinGen:CA10589478
single nucleotide variant	NM_000059.4(BRCA2):c.8295T>A (p.Cys2765Ter)	BRCA2	Pathogenic	13	32937634	32937634	T	A	reviewed by expert panel	ClinGen:CA10589479
Deletion	NM_000059.4(BRCA2):c.8301del (p.Glu2769fs)	BRCA2	Pathogenic	13	32937640	32937640	CT	C	reviewed by expert panel	ClinGen:CA10589480
Duplication	NM_000059.4(BRCA2):c.8316_8317dup (p.Ser2773fs)	BRCA2	Pathogenic	13	32937654	32937655	A	AAT	reviewed by expert panel	ClinGen:CA10589481
Insertion	NM_000059.4(BRCA2):c.8324_8325insA (p.Met2775fs)	BRCA2	Pathogenic	13	32937663	32937664	T	TA	reviewed by expert panel	ClinGen:CA10589482