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50 records found for search term Havcr2
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
243064057CV2412873single nucleotide variantNM_032782.5(HAVCR2):c.523-1G>ASubcutaneous panniculitis-like T-cell lymphoma [RCV003142569]uncertain significance5157095460157095460Human2name
15180383CV775156single nucleotide variantNM_032782.5(HAVCR2):c.714-10A>Gnot provided [RCV000929872]benign5157087304157087304Humanname
404983077CV2849172single nucleotide variantNM_032782.5(HAVCR2):c.478+116G>Anot specified [RCV003489044]benign5157104550157104550Humanname
404983402CV2849192single nucleotide variantNM_032782.5(HAVCR2):c.395-105T>Cnot specified [RCV003489064]benign5157104854157104854Humanname
401915392CV2825482microsatelliteNM_032782.5(HAVCR2):c.479-30CT[9]HAVCR2-related disorder [RCV003980926]|not provided [RCV003428693]benign|likely benign5157098910157098913Humanname , trait , alternate_id
405288472CV3197405microsatelliteNM_032782.5(HAVCR2):c.479-30CT[12]HAVCR2-related disorder [RCV003982501]likely benign5157098909157098910Humanname , trait , alternate_id
405278474CV3221906microsatelliteNM_032782.5(HAVCR2):c.479-30CT[13]HAVCR2-related disorder [RCV003976457]likely benign5157098909157098910Humanname , trait , alternate_id
598123671CV3884719single nucleotide variantNM_032782.5(HAVCR2):c.255T>C (p.Asn85=)not specified [RCV005238325]likely benign5157106766157106766Humanname
598265715CV3971459single nucleotide variantNM_032782.5(HAVCR2):c.150C>T (p.Pro50=)not specified [RCV005349104]likely benign5157106871157106871Humanname
156255214CV2359341single nucleotide variantNM_032782.5(HAVCR2):c.83C>T (p.Ala28Val)not specified [RCV004212621]likely benign5157106938157106938Humanname
401915389CV2825481single nucleotide variantNM_032782.5(HAVCR2):c.894T>C (p.Phe298=)not provided [RCV003428692]likely benign5157087114157087114Humanname
405852868CV3393294single nucleotide variantNM_032782.5(HAVCR2):c.810C>T (p.Asn270=)not provided [RCV004546024]likely benign5157087198157087198Humanname
156267724CV2275570single nucleotide variantNM_032782.5(HAVCR2):c.106C>A (p.Leu36Met)not specified [RCV004137210]uncertain significance5157106915157106915Humanname
401735323CV2706751single nucleotide variantNM_032782.5(HAVCR2):c.117C>A (p.Phe39Leu)not specified [RCV004319312]uncertain significance5157106904157106904Humanname
401726845CV2736189single nucleotide variantNM_032782.5(HAVCR2):c.145G>A (p.Val49Met)not provided [RCV003312637]uncertain significance5157106876157106876Humanname
405789594CV3266259single nucleotide variantNM_032782.5(HAVCR2):c.127G>C (p.Ala43Pro)not specified [RCV004399269]uncertain significance5157106894157106894Humanname
597709930CV3682236single nucleotide variantNM_032782.5(HAVCR2):c.163A>G (p.Lys55Glu)not specified [RCV004917375]uncertain significance5157106858157106858Humanname
597709940CV3682237single nucleotide variantNM_032782.5(HAVCR2):c.222T>A (p.Asp74Glu)not specified [RCV004917376]uncertain significance5157106799157106799Humanname
616933775CV4011739single nucleotide variantNM_032782.5(HAVCR2):c.254A>G (p.Asn85Ser)not specified [RCV005408288]uncertain significance5157106767157106767Humanname
14399304CV614546single nucleotide variantNM_032782.5(HAVCR2):c.245A>G (p.Tyr82Cys)HAVCR2-related disorder [RCV003955498]|Subcutaneous panniculitis-like T-cell lymphoma [RCV000768411]|not provided [RCV001785721]risk factor|likely benign|conflicting interpretations of pathogenicity|uncertain significance5157106776157106776Human2name , trait , alternate_id
14399305CV614547single nucleotide variantNM_032782.5(HAVCR2):c.291A>G (p.Ile97Met)Subcutaneous panniculitis-like T-cell lymphoma [RCV000768412]|not provided [RCV001310880]pathogenic|likely pathogenic|risk factor|likely benign|conflicting interpretations of pathogenicity5157106730157106730Human3name
14399305CV614547single nucleotide variantNM_032782.5(HAVCR2):c.291A>G (p.Ile97Met)Subcutaneous panniculitis-like T-cell lymphoma [RCV000768412]|not provided [RCV001310880]pathogenic|likely pathogenic|risk factor|likely benign|conflicting interpretations of pathogenicity5157106730157106731Human3name
126910402CV1037627single nucleotide variantNM_032782.5(HAVCR2):c.332G>A (p.Arg111Gln)Subcutaneous panniculitis-like T-cell lymphoma [RCV001354547]uncertain significance5157106689157106689Human2name
150492769CV1275173single nucleotide variantNM_032782.5(HAVCR2):c.419G>T (p.Arg140Leu)Subcutaneous panniculitis-like T-cell lymphoma [RCV001702051]|not specified [RCV003487733]benign5157104725157104725Human2name
150521493CV1289151single nucleotide variantNM_032782.5(HAVCR2):c.509A>T (p.Asp170Val)not provided [RCV001725916]|not specified [RCV004040011]uncertain significance5157098871157098871Humanname
151235342CV1318618single nucleotide variantNM_032782.5(HAVCR2):c.776G>A (p.Arg259His)not provided [RCV001794945]likely benign|conflicting interpretations of pathogenicity5157087232157087232Humanname
156179526CV2225697single nucleotide variantNM_032782.5(HAVCR2):c.385A>G (p.Ile129Val)not specified [RCV004103120]uncertain significance5157106636157106636Humanname
156097352CV2253179single nucleotide variantNM_032782.5(HAVCR2):c.349A>C (p.Ile117Leu)not provided [RCV004790420]|not specified [RCV004120945]likely benign|uncertain significance5157106672157106672Humanname
156130337CV2364897single nucleotide variantNM_032782.5(HAVCR2):c.515A>G (p.Asn172Ser)not specified [RCV004221798]uncertain significance5157098865157098865Humanname
401736022CV2672803single nucleotide variantNM_032782.5(HAVCR2):c.775C>T (p.Arg259Cys)not specified [RCV004281584]uncertain significance5157087233157087233Humanname
401732789CV2691110single nucleotide variantNM_032782.5(HAVCR2):c.833A>T (p.Asn278Ile)not specified [RCV004301105]uncertain significance5157087175157087175Humanname
401760429CV2695040single nucleotide variantNM_032782.5(HAVCR2):c.516T>A (p.Asn172Lys)not specified [RCV004303200]uncertain significance5157098864157098864Humanname
405258021CV3208028single nucleotide variantNM_032782.5(HAVCR2):c.319A>T (p.Ile107Phe)HAVCR2-related disorder [RCV003941489]|not specified [RCV005407288]likely benign5157106702157106702Human1name , trait , alternate_id
405293562CV3214248single nucleotide variantNM_032782.5(HAVCR2):c.512T>C (p.Ile171Thr)HAVCR2-related disorder [RCV003931952]benign5157098868157098868Humanname , trait , alternate_id
405293165CV3221247single nucleotide variantNM_032782.5(HAVCR2):c.623G>C (p.Gly208Ala)HAVCR2-related disorder [RCV003966779]likely benign5157095359157095359Humanname , trait , alternate_id
405789597CV3266260single nucleotide variantNM_032782.5(HAVCR2):c.418C>T (p.Arg140Trp)not specified [RCV004399270]uncertain significance5157104726157104726Humanname
405789601CV3266261single nucleotide variantNM_032782.5(HAVCR2):c.550C>T (p.Arg184Trp)not specified [RCV004399271]uncertain significance5157095432157095432Humanname
405789605CV3266262single nucleotide variantNM_032782.5(HAVCR2):c.614T>C (p.Ile205Thr)not specified [RCV004399272]uncertain significance5157095368157095368Humanname
407514481CV3440109single nucleotide variantNM_032782.5(HAVCR2):c.470A>G (p.His157Arg)not specified [RCV004627507]uncertain significance5157104674157104674Humanname
596931684CV3538791single nucleotide variantNM_032782.5(HAVCR2):c.524A>G (p.Gln175Arg)not provided [RCV004792917]|not specified [RCV004917912]uncertain significance5157095458157095458Humanname
596931687CV3538792single nucleotide variantNM_032782.5(HAVCR2):c.404C>G (p.Thr135Ser)not provided [RCV004792918]uncertain significance5157104740157104740Humanname
597781465CV3682233single nucleotide variantNM_032782.5(HAVCR2):c.844T>G (p.Cys282Gly)not specified [RCV004930876]uncertain significance5157087164157087164Humanname
597781461CV3682234single nucleotide variantNM_032782.5(HAVCR2):c.581A>G (p.Asp194Gly)not specified [RCV004930877]uncertain significance5157095401157095401Humanname
597781457CV3682235single nucleotide variantNM_032782.5(HAVCR2):c.743C>T (p.Ser248Leu)not specified [RCV004930878]uncertain significance5157087265157087265Humanname
597709949CV3682238single nucleotide variantNM_032782.5(HAVCR2):c.301A>T (p.Thr101Ser)not specified [RCV004917377]uncertain significance5157106720157106720Humanname
597781454CV3682239single nucleotide variantNM_032782.5(HAVCR2):c.491C>G (p.Thr164Arg)not specified [RCV004930879]uncertain significance5157098889157098889Humanname
598224916CV3894180single nucleotide variantNM_032782.5(HAVCR2):c.577C>T (p.Arg193Trp)not provided [RCV005257423]uncertain significance5157095405157095405Humanname
14399306CV614548single nucleotide variantNM_032782.5(HAVCR2):c.302C>T (p.Thr101Ile)HAVCR2-related disorder [RCV003918257]|Subcutaneous panniculitis-like T-cell lymphoma [RCV000768413]|not provided [RCV002263968]risk factor|benign|likely benign5157106719157106719Human3name , trait , alternate_id
14399306CV614548single nucleotide variantNM_032782.5(HAVCR2):c.302C>T (p.Thr101Ile)HAVCR2-related disorder [RCV003918257]|Subcutaneous panniculitis-like T-cell lymphoma [RCV000768413]|not provided [RCV002263968]risk factor|benign|likely benign5157106719157106720Human3name , trait , alternate_id
15130303CV709783single nucleotide variantNM_032782.5(HAVCR2):c.830C>T (p.Pro277Leu)HAVCR2-related disorder [RCV003926236]|not provided [RCV000964412]benign5157087178157087178Human1name , trait , alternate_id