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
single nucleotide variant	NM_000059.4(BRCA2):c.5159C>A (p.Ser1720Ter)	BRCA2	Pathogenic	13	32913651	32913651	C	A	reviewed by expert panel	ClinGen:CA021429
Deletion	NM_000059.4(BRCA2):c.5386_5387del (p.Asp1796fs)	BRCA2	Pathogenic	13	32913877	32913878	AAG	A	reviewed by expert panel	ClinGen:CA022186
Deletion	NM_000059.4(BRCA2):c.5470_5471del (p.Asn1824fs)	BRCA2	Pathogenic	13	32913959	32913960	TAA	T	reviewed by expert panel	ClinGen:CA022385
Duplication	NM_000059.4(BRCA2):c.1447dup (p.Ala483fs)	BRCA2	Pathogenic	13	32907061	32907062	T	TG	reviewed by expert panel	ClinGen:CA169014
single nucleotide variant	NM_000059.4(BRCA2):c.3412C>T (p.Gln1138Ter)	BRCA2	Pathogenic	13	32911904	32911904	C	T	reviewed by expert panel	ClinGen:CA017964
single nucleotide variant	NM_007294.4(BRCA1):c.2593A>T (p.Lys865Ter)	BRCA1	Pathogenic	17	41244955	41244955	T	A	reviewed by expert panel	ClinGen:CA001706
Deletion	NM_007294.4(BRCA1):c.335_338del (p.Asn112fs)	BRCA1	Pathogenic	17	41256242	41256245	GTTAT	G	reviewed by expert panel	ClinGen:CA002173
Deletion	NM_000059.4(BRCA2):c.6703_6704del (p.Met2235fs)	BRCA2	Pathogenic	13	32915194	32915195	TTA	T	reviewed by expert panel	ClinGen:CA024310
Deletion	NM_000059.4(BRCA2):c.3358del (p.Glu1120fs)	BRCA2	Pathogenic	13	32911850	32911850	AG	A	reviewed by expert panel	ClinGen:CA017851
Deletion	NM_024675.4(PALB2):c.2052del (p.Arg686fs)	PALB2	Pathogenic	16	23641423	23641423	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA294475