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.1448_1451dupCAGT	BRCA2	Pathogenic	13	32907062	32907063	G	GCAGT	reviewed by expert panel	ClinGen:CA10589094
Indel	NM_000059.3(BRCA2):c.1449_1451delinsTTCC (p.Val484fs)	BRCA2	Pathogenic	13	32907064	32907066	AGT	TTCC	reviewed by expert panel	ClinGen:CA10589095
Deletion	NM_000059.4(BRCA2):c.1454del (p.Lys485fs)	BRCA2	Pathogenic	13	32907067	32907067	TA	T	reviewed by expert panel	ClinGen:CA10589096
Deletion	NM_000059.4(BRCA2):c.1482_1486del (p.Ala495fs)	BRCA2	Pathogenic	13	32907096	32907100	GTGGCT	G	reviewed by expert panel	ClinGen:CA10589097
Duplication	NM_000059.4(BRCA2):c.1484dup (p.Ser496fs)	BRCA2	Pathogenic	13	32907098	32907099	G	GC	reviewed by expert panel	ClinGen:CA10589098
Deletion	NM_000059.4(BRCA2):c.1504_1511del (p.Lys502fs)	BRCA2	Pathogenic	13	32907117	32907124	ATCAAAAAG	A	reviewed by expert panel	ClinGen:CA10589099
Deletion	NM_000059.4(BRCA2):c.1508del (p.Lys503fs)	BRCA2	Pathogenic	13	32907119	32907119	CA	C	reviewed by expert panel	ClinGen:CA10589100
Deletion	NM_000059.4(BRCA2):c.1538_1541del (p.Lys513fs)	BRCA2	Pathogenic	13	32907152	32907155	TAAAG	T	reviewed by expert panel	ClinGen:CA10589102
Deletion	NM_000059.4(BRCA2):c.1560_1561del (p.Ser521fs)	BRCA2	Pathogenic	13	32907172	32907173	GTT	G	reviewed by expert panel	ClinGen:CA10589103
Deletion	NM_000059.4(BRCA2):c.1587_1590del (p.Phe529fs)	BRCA2	Pathogenic	13	32907202	32907205	TTAAA	T	reviewed by expert panel	ClinGen:CA10589104