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.9498del (p.Glu3167fs)	BRCA2	Pathogenic	13	32969066	32969066	GT	G	reviewed by expert panel	ClinGen:CA026179
Duplication	NM_000059.4(BRCA2):c.9498dup (p.Glu3167Ter)	BRCA2	Pathogenic	13	32969065	32969066	G	GT	reviewed by expert panel	ClinGen:CA026178
single nucleotide variant	NM_000059.4(BRCA2):c.9501+1G>A	BRCA2	Pathogenic/Likely pathogenic	13	32969071	32969071	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA026182
single nucleotide variant	NM_000059.4(BRCA2):c.9502-2A>C	BRCA2	Pathogenic/Likely pathogenic	13	32971033	32971033	A	C	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA2):9730-2&base_change=A to C,ClinGen:CA026190
Deletion	NM_000059.4(BRCA2):c.9507del (p.Ile3169fs)	BRCA2	Pathogenic	13	32971039	32971039	AT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9735&base_change=del T,ClinGen:CA026192
Deletion	NM_000059.4(BRCA2):c.9513_9516del (p.Leu3172fs)	BRCA2	Pathogenic	13	32971045	32971048	ATACT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9741&base_change=del ACTT,ClinGen:CA026196
single nucleotide variant	NM_000059.4(BRCA2):c.952A>T (p.Lys318Ter)	BRCA2	Pathogenic	13	32906567	32906567	A	T	reviewed by expert panel	ClinGen:CA026200
Duplication	NM_000059.4(BRCA2):c.9537dup (p.Leu3180fs)	BRCA2	Pathogenic	13	32971069	32971070	A	AG	reviewed by expert panel	ClinGen:CA026201
Deletion	NM_000059.4(BRCA2):c.9541_9554del (p.Met3181fs)	BRCA2	Pathogenic	13	32971074	32971087	TATGCATATACTGCA	T	reviewed by expert panel	ClinGen:CA026204
Duplication	NM_000059.4(BRCA2):c.956dup (p.Asn319fs)	BRCA2	Pathogenic	13	32906565	32906566	C	CA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1184&base_change=ins A,ClinGen:CA026213