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.3353_3355del (p.Leu1118_Glu1119delinsTer)	BRCA2	Pathogenic	13	32911845	32911847	TTAG	T	reviewed by expert panel	ClinGen:CA017838
Deletion	NM_000059.4(BRCA2):c.3365del (p.Gly1122fs)	BRCA2	Pathogenic	13	32911856	32911856	AG	A	reviewed by expert panel	ClinGen:CA017872
Duplication	NM_000059.4(BRCA2):c.3836dup (p.Asn1279fs)	BRCA2	Pathogenic	13	32912326	32912327	T	TA	reviewed by expert panel	ClinGen:CA196954
Deletion	NM_000059.4(BRCA2):c.4211_4215del (p.Thr1403_Ser1404insTer)	BRCA2	Pathogenic	13	32912702	32912706	TTCAAA	T	reviewed by expert panel	ClinGen:CA019721
single nucleotide variant	NM_000059.4(BRCA2):c.4246C>T (p.Gln1416Ter)	BRCA2	Pathogenic	13	32912738	32912738	C	T	reviewed by expert panel	ClinGen:CA019781
Deletion	NM_000059.4(BRCA2):c.4477_4478del (p.Glu1493fs)	BRCA2	Pathogenic	13	32912968	32912969	AAG	A	reviewed by expert panel	ClinGen:CA020240
Duplication	NM_000059.4(BRCA2):c.4914dup (p.Val1639fs)	BRCA2	Pathogenic	13	32913403	32913404	T	TA	reviewed by expert panel	ClinGen:CA196801
Indel	NM_000059.4(BRCA2):c.5221_5225delinsC (p.Ser1741fs)	BRCA2	Pathogenic	13	32913713	32913717	AGTAA	C	reviewed by expert panel	ClinGen:CA021771
Deletion	NM_000059.4(BRCA2):c.5353del (p.Thr1785fs)	BRCA2	Pathogenic	13	32913845	32913845	CA	C	reviewed by expert panel	ClinGen:CA022135
Duplication	NM_000059.4(BRCA2):c.5496dup (p.Asn1833Ter)	BRCA2	Pathogenic	13	32913987	32913988	C	CT	reviewed by expert panel	ClinGen:CA198047