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.3458del (p.Lys1153fs)	BRCA2	Pathogenic	13	32911948	32911948	TA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3686&base_change=del A,ClinGen:CA018110
Insertion	NM_000059.3(BRCA2):c.156_157insAlu	BRCA2	Pathogenic	13	32893302	32893303	na	na	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):384&base_change=ins Alu
Insertion	NM_000059.4(BRCA2):c.4006_4007insA (p.Phe1336fs)	BRCA2	Pathogenic	13	32912498	32912499	T	TA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4234&base_change=ins A,ClinGen:CA019385
Insertion	NM_000059.4(BRCA2):c.4008_4009insCATC (p.Asp1337fs)	BRCA2	Pathogenic	13	32912500	32912501	T	TCATC	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4236&base_change=ins CATC,ClinGen:CA019388
Insertion	NM_000059.4(BRCA2):c.4014_4015insGG (p.Ser1339fs)	BRCA2	Pathogenic	13	32912506	32912507	C	CGG	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4242&base_change=ins GG,ClinGen:CA019398
Duplication	NM_000059.4(BRCA2):c.4048dup (p.His1350fs)	BRCA2	Pathogenic	13	32912539	32912540	T	TC	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4276&base_change=ins C,ClinGen:CA019430
Insertion	NM_000059.4(BRCA2):c.4131_4132insTGAGGA (p.Thr1378Ter)	BRCA2	Pathogenic	13	32912623	32912624	C	CTGAGGA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4359&base_change=ins TGAGGA,ClinGen:CA019572
Deletion	NM_000059.4(BRCA2):c.4563_4564del (p.Leu1522fs)	BRCA2	Pathogenic	13	32913054	32913055	CTA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4791&base_change=del GT,ClinGen:CA020451
Insertion	NM_000059.4(BRCA2):c.4809_4810insA (p.Leu1604fs)	BRCA2	Pathogenic	13	32913301	32913302	C	CA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5037&base_change=ins A,ClinGen:CA020862
Duplication	NM_000059.4(BRCA2):c.4904dup (p.Leu1635fs)	BRCA2	Pathogenic	13	32913391	32913392	C	CT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5132&base_change=ins T,ClinGen:CA020987