Annotation Detail
Information
- Associated Genes
- BARD1
- Associated Variants
-
BARD1 p.Ile717GlnfsTer12 (p.I717Qfs*12)
(
ENST00000260947.9,
ENST00000421162.2,
ENST00000613374.5,
ENST00000613706.5,
ENST00000617164.5,
ENST00000619009.5,
ENST00000620057.4 )
BARD1 p.Pro657HisfsTer57 (p.P657Hfs*57) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.Cys645Ter (p.C645*) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.His606ArgfsTer6 (p.H606Rfs*6) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.Ser400ValfsTer8 (p.S400Vfs*8) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.Glu287ValfsTer5 (p.E287Vfs*5) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.Asn219LysfsTer35 (p.N219Kfs*35) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.Tyr180Ter (p.Y180*) ( ENST00000421162.2, ENST00000260947.9, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.Ile717GlnfsTer12 (p.I717Qfs*12) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.Pro657HisfsTer57 (p.P657Hfs*57) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.Cys645Ter (p.C645*) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.His606ArgfsTer6 (p.H606Rfs*6) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.Ser400ValfsTer8 (p.S400Vfs*8) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.Glu287ValfsTer5 (p.E287Vfs*5) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.Asn219LysfsTer35 (p.N219Kfs*35) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.Tyr180Ter (p.Y180*) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.Val422MetfsTer53 (p.V422Mfs*53) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.Val422MetfsTer53 (p.V422Mfs*53) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.Trp756Ter (p.W756*) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.Gln666Ter (p.Q666*) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.Arg641Ter (p.R641*) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.Gln564Ter (p.Q564*) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.Cys557Ser (p.C557S) ( ENST00000421162.2, ENST00000260947.9, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.Cys557Tyr (p.C557Y) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.Ser551Leu (p.S551L) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.Ser551Ter (p.S551*) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.Tyr404Ter (p.Y404*) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.Ser354Ter (p.S354*) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.Leu316Ter (p.L316*) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.Gln245Ter (p.Q245*) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.Gly203Ter (p.G203*) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.Gln166Ter (p.Q166*) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.Arg150Ter (p.R150*) ( ENST00000421162.2, ENST00000260947.9, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.Arg112Ter (p.R112*) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.Gln100Ter (p.Q100*) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.? (p.?) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.Trp756Ter (p.W756*) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.Gln666Ter (p.Q666*) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.Arg641Ter (p.R641*) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.Gln564Ter (p.Q564*) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.Cys557Ser (p.C557S) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.Cys557Tyr (p.C557Y) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.Ser551Leu (p.S551L) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.Ser551Ter (p.S551*) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.Tyr404Ter (p.Y404*) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.Ser354Ter (p.S354*) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.Leu316Ter (p.L316*) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.Gln245Ter (p.Q245*) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.Gly203Ter (p.G203*) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.Gln166Ter (p.Q166*) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.Arg150Ter (p.R150*) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.Arg112Ter (p.R112*) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.Gln100Ter (p.Q100*) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.? (p.?) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.Glu652AspfsTer69 (p.E652Dfs*69)
BARD1 p.Thr210AsnfsTer4 (p.T210Nfs*4)
BARD1 p.Glu652AspfsTer69 (p.E652Dfs*69)
BARD1 p.Thr210AsnfsTer4 (p.T210Nfs*4) - Associated Disease
- Neoplastic Syndromes, Hereditary
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.12
- Year of publication
- NA
Drugs