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Pathways
Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)


329 records found for search term Idh3B
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
596944469CV3408906single nucleotide variantNM_006899.5(IDH3B):c.-11C>TOptic atrophy [RCV004817559]uncertain significance2026641992664199Human2name
151824665CV1350980single nucleotide variantNM_006899.5(IDH3B):c.36+1G>Anot provided [RCV001919907]likely pathogenic|uncertain significance2026641522664152Humanname
405210088CV2866871single nucleotide variantNM_006899.5(IDH3B):c.37-8T>Cnot provided [RCV003552357]likely benign2026640132664013Humanname
405295312CV3209382single nucleotide variantNM_006899.5(IDH3B):c.*224C>AIDH3B-related disorder [RCV003937257]likely benign2026585272658527Humanname , trait , alternate_id
11621580CV335079single nucleotide variantNM_006899.5(IDH3B):c.*235A>GRetinitis pigmentosa [RCV000350400]|not provided [RCV001707664]benign|likely benign2026585162658516Human2name
11628105CV344861single nucleotide variantNM_006899.5(IDH3B):c.*253T>CRetinitis pigmentosa [RCV000295524]uncertain significance2026584982658498Human2name
11663631CV350800single nucleotide variantNM_006899.5(IDH3B):c.*212A>GRetinitis pigmentosa [RCV000397694]uncertain significance2026585392658539Human2name
11628846CV350801single nucleotide variantNM_006899.5(IDH3B):c.*203T>CRetinitis pigmentosa [RCV000310665]uncertain significance2026585482658548Human2name
26920204CV851843single nucleotide variantNM_006899.5(IDH3B):c.37-1G>Anot provided [RCV001047116]likely pathogenic|uncertain significance2026640062664006Humanname
28887173CV885947single nucleotide variantNM_006899.5(IDH3B):c.*177A>GRetinitis pigmentosa [RCV001138024]uncertain significance2026585742658574Human2name
28887179CV885948single nucleotide variantNM_006899.5(IDH3B):c.*139G>ARetinitis pigmentosa [RCV001138025]uncertain significance2026586122658612Human2name
8642357CV101341single nucleotide variantNM_006899.5(IDH3B):c.117+6C>AIDH3B-related disorder [RCV003935056]|Retinitis pigmentosa [RCV000395761]|not provided [RCV000970913]|not specified [RCV000081467]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance2026639192663919Human3name , trait , alternate_id
127329748CV1128334single nucleotide variantNM_006899.5(IDH3B):c.665+8G>Cnot provided [RCV001470406]likely benign2026604492660449Humanname
150439289CV1266752single nucleotide variantNM_006899.5(IDH3B):c.37-34G>Tnot provided [RCV001690187]benign2026640392664039Humanname
151854304CV1455692single nucleotide variantNM_006899.5(IDH3B):c.768+2T>Gnot provided [RCV002016986]likely pathogenic|uncertain significance2026602612660261Humanname
151850100CV1464852single nucleotide variantNM_006899.5(IDH3B):c.398+5G>Tnot provided [RCV001995849]uncertain significance2026609042660904Humanname
152175673CV1527053single nucleotide variantNM_006899.5(IDH3B):c.399-9C>Tnot provided [RCV002163809]likely benign2026608382660838Humanname
152151049CV1559601single nucleotide variantNM_006899.5(IDH3B):c.37-18T>Gnot provided [RCV002220821]likely benign2026640232664023Humanname
152045825CV1600219single nucleotide variantNM_006899.5(IDH3B):c.768+8C>Gnot provided [RCV002088537]likely benign2026602552660255Humanname
156323015CV1988508single nucleotide variantNM_006899.5(IDH3B):c.532-9C>Gnot provided [RCV002649375]likely benign2026605992660599Humanname
156154449CV2023234single nucleotide variantNM_006899.5(IDH3B):c.117+1G>Tnot provided [RCV002741328]likely pathogenic|uncertain significance2026639242663924Humanname
156348666CV2061972single nucleotide variantNM_006899.5(IDH3B):c.337+8T>Gnot provided [RCV002811617]likely benign2026634382663438Humanname
155993061CV2063853single nucleotide variantNM_006899.5(IDH3B):c.217-5T>Gnot provided [RCV002843049]likely benign2026635712663571Humanname
156206515CV2076740single nucleotide variantNM_006899.5(IDH3B):c.915+5G>Anot provided [RCV002852663]uncertain significance2026600252660025Humanname
155947392CV2077282single nucleotide variantNM_006899.5(IDH3B):c.399-6C>Tnot provided [RCV002880301]likely benign2026608352660835Humanname
156286539CV2134182single nucleotide variantNM_006899.5(IDH3B):c.531+7C>Gnot provided [RCV003009792]likely benign2026606902660690Humanname
155967435CV2180199single nucleotide variantNM_006899.5(IDH3B):c.532-2A>Gnot provided [RCV003033234]likely pathogenic|uncertain significance2026605922660592Humanname
405216418CV2872480single nucleotide variantNM_006899.5(IDH3B):c.117+3A>Gnot provided [RCV003553255]uncertain significance2026639222663922Humanname
405234808CV3155593single nucleotide variantNM_006899.5(IDH3B):c.916-4A>Gnot provided [RCV003853571]likely benign2026597972659797Humanname
11630189CV344895single nucleotide variantNM_006899.5(IDH3B):c.118-3G>CRetinitis pigmentosa 46 [RCV001702617]|Retinitis pigmentosa [RCV000343632]|not provided [RCV001523417]benign2026637612663761Human3name , alternate_id
597969402CV3753320single nucleotide variantNM_006899.5(IDH3B):c.118-6A>Tnot provided [RCV005083804]likely benign2026637642663764Humanname
597974199CV3801821single nucleotide variantNM_006899.5(IDH3B):c.531+1G>Cnot provided [RCV005143810]likely pathogenic2026606962660696Humanname
13523082CV488713single nucleotide variantNM_006899.5(IDH3B):c.665+9C>Tnot provided [RCV000592552]uncertain significance2026604482660448Humanname
13516450CV488714single nucleotide variantNM_006899.5(IDH3B):c.665+8G>Tnot provided [RCV000595539]conflicting interpretations of pathogenicity|uncertain significance2026604492660449Humanname
14693672CV620918single nucleotide variantNM_006899.5(IDH3B):c.768+1G>Tnot provided [RCV003669171]likely pathogenic|uncertain significance2026602622660262Humanname
28895799CV887439single nucleotide variantNM_006899.5(IDH3B):c.916-8C>TRetinitis pigmentosa [RCV001141014]uncertain significance2026598012659801Human2name
28887664CV887442single nucleotide variantNM_006899.5(IDH3B):c.118-6A>GRetinal dystrophy [RCV004813790]|Retinitis pigmentosa [RCV001138117]|not provided [RCV001856764]uncertain significance2026637642663764Human4name
38470989CV940499single nucleotide variantNM_006899.5(IDH3B):c.216+3G>Tnot provided [RCV001202632]uncertain significance2026636572663657Humanname
38488694CV960313single nucleotide variantNM_006899.5(IDH3B):c.398+3A>Cnot provided [RCV001238105]uncertain significance2026609062660906Humanname
38457341CV960937single nucleotide variantNM_006899.5(IDH3B):c.531+6G>Tnot provided [RCV001246038]uncertain significance2026606912660691Humanname
126741822CV1014049single nucleotide variantNM_006899.5(IDH3B):c.1072-1G>Anot provided [RCV001325394]uncertain significance2026588382658838Humanname
127239188CV1085195duplicationNM_006899.5(IDH3B):c.666-11dupnot provided [RCV001415275]likely benign2026603732660374Humanname
127322984CV1158771single nucleotide variantNM_006899.5(IDH3B):c.117+13C>Gnot provided [RCV001523760]benign2026639122663912Humanname
150455937CV1220533single nucleotide variantNM_006899.5(IDH3B):c.916-49A>Gnot provided [RCV001612626]benign2026598422659842Humanname
151722987CV1346732single nucleotide variantNM_006899.5(IDH3B):c.1071+5G>Anot provided [RCV001966238]uncertain significance2026595202659520Humanname
151796330CV1421540single nucleotide variantNM_006899.5(IDH3B):c.1071+3G>Anot provided [RCV001917293]uncertain significance2026595222659522Humanname
151711128CV1443711single nucleotide variantNM_006899.5(IDH3B):c.1071+4A>Tnot provided [RCV001908029]uncertain significance2026595212659521Humanname
152099962CV1524710single nucleotide variantNM_006899.5(IDH3B):c.915+19T>Cnot provided [RCV002172964]likely benign2026600112660011Humanname
152169526CV1529244single nucleotide variantNM_006899.5(IDH3B):c.118-20C>Tnot provided [RCV002161474]likely benign2026637782663778Humanname
152150983CV1559590single nucleotide variantNM_006899.5(IDH3B):c.118-10C>Tnot provided [RCV002220812]likely benign2026637682663768Humanname
152035263CV1583003single nucleotide variantNM_006899.5(IDH3B):c.532-12C>Anot provided [RCV002106879]likely benign2026606022660602Humanname
152127741CV1583665single nucleotide variantNM_006899.5(IDH3B):c.398+12G>Anot provided [RCV002198910]likely benign2026608972660897Humanname
152167529CV1600778single nucleotide variantNM_006899.5(IDH3B):c.666-18C>Tnot provided [RCV002160892]likely benign2026603832660383Humanname
152135615CV1624519single nucleotide variantNM_006899.5(IDH3B):c.216+10C>Tnot provided [RCV002177380]likely benign2026636502663650Humanname
152070412CV1628389single nucleotide variantNM_006899.5(IDH3B):c.769-18C>Tnot provided [RCV002169215]likely benign2026601942660194Humanname
152170341CV1663324single nucleotide variantNM_006899.5(IDH3B):c.337+20A>Gnot provided [RCV002183119]likely benign2026634262663426Humanname
10049863CV191053single nucleotide variantNM_006899.5(IDH3B):c.1011-9T>Cnot provided [RCV000174117]conflicting interpretations of pathogenicity|uncertain significance2026595942659594Humanname
10049987CV191242single nucleotide variantNM_006899.5(IDH3B):c.1072-4G>AIDH3B-related disorder [RCV003927594]|not provided [RCV000174356]likely benign|conflicting interpretations of pathogenicity|uncertain significance2026588412658841Human1name , trait , alternate_id
156380828CV1978631single nucleotide variantNM_006899.5(IDH3B):c.337+14C>Tnot provided [RCV002603952]likely benign2026634322663432Humanname
156381954CV1994942single nucleotide variantNM_006899.5(IDH3B):c.398+16G>Cnot provided [RCV002653725]likely benign2026608932660893Humanname
156337020CV1997266single nucleotide variantNM_006899.5(IDH3B):c.398+19G>Anot provided [RCV002650122]likely benign2026608902660890Humanname
156055373CV2003297single nucleotide variantNM_006899.5(IDH3B):c.118-18C>Tnot provided [RCV002659502]likely benign2026637762663776Humanname
156144961CV2052692single nucleotide variantNM_006899.5(IDH3B):c.398+17G>Anot provided [RCV002801096]likely benign2026608922660892Humanname
156139469CV2082236single nucleotide variantNM_006899.5(IDH3B):c.117+13C>Tnot provided [RCV002871930]likely benign2026639122663912Humanname
156100438CV2132593single nucleotide variantNM_006899.5(IDH3B):c.1010+1G>Anot provided [RCV002979966]likely pathogenic|uncertain significance2026596982659698Humanname
156284017CV2134003single nucleotide variantNM_006899.5(IDH3B):c.118-12C>Gnot provided [RCV003009699]likely benign2026637702663770Humanname
156277353CV2137329single nucleotide variantNM_006899.5(IDH3B):c.769-14A>Cnot provided [RCV003009476]likely benign2026601902660190Humanname
155967378CV2156146deletionNM_006899.5(IDH3B):c.216+10delnot provided [RCV003015769]likely benign2026636502663650Humanname
156325137CV2159742single nucleotide variantNM_006899.5(IDH3B):c.666-19C>Tnot provided [RCV003029438]likely benign2026603842660384Humanname
405130079CV2953513single nucleotide variantNM_006899.5(IDH3B):c.217-13C>Tnot provided [RCV003672266]likely benign2026635792663579Humanname
402508594CV2989063single nucleotide variantNM_006899.5(IDH3B):c.665+12G>Anot provided [RCV003689249]likely benign2026604452660445Humanname
405002446CV3016156single nucleotide variantNM_006899.5(IDH3B):c.399-13T>Gnot provided [RCV003693307]likely benign2026608422660842Humanname
405166076CV3018760single nucleotide variantNM_006899.5(IDH3B):c.769-13T>Cnot provided [RCV003704258]likely benign2026601892660189Humanname
405182288CV3024454single nucleotide variantNM_006899.5(IDH3B):c.1072-5T>Cnot provided [RCV003705656]likely benign2026588422658842Humanname
402500563CV3035320single nucleotide variantNM_006899.5(IDH3B):c.117+17C>Tnot provided [RCV003714693]likely benign2026639082663908Humanname
405137994CV3125420single nucleotide variantNM_006899.5(IDH3B):c.915+20C>Tnot provided [RCV003816527]likely benign2026600102660010Humanname
405197132CV3168229single nucleotide variantNM_006899.5(IDH3B):c.665+18G>Anot provided [RCV003860361]likely benign2026604392660439Humanname
11629223CV344878single nucleotide variantNM_006899.5(IDH3B):c.916-10C>TIDH3B-related disorder [RCV003932348]|Retinal dystrophy [RCV004816585]|Retinitis pigmentosa [RCV000318929]|not provided [RCV002057730]likely benign|uncertain significance2026598032659803Human5name , trait , alternate_id
11630350CV350804single nucleotide variantNM_006899.5(IDH3B):c.399-12G>TRetinitis pigmentosa [RCV000347329]|not provided [RCV002523154]likely benign|uncertain significance2026608412660841Human2name
597840545CV3825336single nucleotide variantNM_006899.5(IDH3B):c.399-17G>Cnot provided [RCV005172019]likely benign2026608462660846Humanname
597936041CV3845356single nucleotide variantNM_006899.5(IDH3B):c.1072-6C>Tnot provided [RCV005186669]likely benign2026588432658843Humanname
28888629CV887438single nucleotide variantNM_006899.5(IDH3B):c.1010+8A>GRetinitis pigmentosa [RCV001138441]|not provided [RCV002070627]benign|uncertain significance2026596912659691Human2name
28900644CV887440single nucleotide variantNM_006899.5(IDH3B):c.338-10G>TRetinitis pigmentosa [RCV001142859]|not provided [RCV003769682]likely benign|uncertain significance2026609792660979Human2name
28900649CV887441single nucleotide variantNM_006899.5(IDH3B):c.337+11C>TRetinitis pigmentosa [RCV001142860]|not provided [RCV001512786]benign|uncertain significance2026634352663435Human2name
127310909CV1128332single nucleotide variantNM_006899.5(IDH3B):c.1072-13G>Anot provided [RCV001456724]likely benign2026588502658850Humanname
150517423CV1226873single nucleotide variantNM_006899.5(IDH3B):c.1072-87C>Anot provided [RCV001639968]benign2026589242658924Humanname
150455027CV1277114single nucleotide variantNM_006899.5(IDH3B):c.1071+69C>Tnot provided [RCV001708906]benign2026594562659456Humanname
152159237CV1522032single nucleotide variantNM_006899.5(IDH3B):c.1072-14G>Anot provided [RCV002180630]likely benign2026588512658851Humanname
152175719CV1527114single nucleotide variantNM_006899.5(IDH3B):c.1071+13G>Anot provided [RCV002163855]likely benign2026595122659512Humanname
152172826CV1652729single nucleotide variantNM_006899.5(IDH3B):c.1010+20C>Tnot provided [RCV002143906]likely benign2026596792659679Humanname
152103016CV1656859single nucleotide variantNM_006899.5(IDH3B):c.1072-15C>Tnot provided [RCV002195792]likely benign2026588522658852Humanname
156359475CV2184005single nucleotide variantNM_006899.5(IDH3B):c.1072-19T>Cnot provided [RCV003048918]likely benign2026588562658856Humanname
405077665CV3031779single nucleotide variantNM_006899.5(IDH3B):c.1010+11G>Anot provided [RCV003698702]likely benign2026596882659688Humanname
150507643CV1257189single nucleotide variantNM_006899.5(IDH3B):c.1071+138T>Anot provided [RCV001678488]benign2026593872659387Humanname
150440004CV1265049single nucleotide variantNM_006899.5(IDH3B):c.1071+108G>Tnot provided [RCV001679042]benign2026594172659417Humanname
150491950CV1267861single nucleotide variantNM_006899.5(IDH3B):c.1072-323C>Tnot provided [RCV001687886]benign2026591602659160Humanname
150474959CV1278964single nucleotide variantNM_006899.5(IDH3B):c.1072-219C>Tnot provided [RCV001713772]benign2026590562659056Humanname
127263627CV1085198single nucleotide variantNM_006899.5(IDH3B):c.21C>T (p.Val7=)not provided [RCV001403052]likely benign2026641682664168Humanname
155987933CV1979704single nucleotide variantNM_006899.5(IDH3B):c.15C>T (p.Ser5=)not provided [RCV002617891]likely benign2026641742664174Humanname
126915277CV1051646single nucleotide variantNM_006899.5(IDH3B):c.5C>T (p.Ala2Val)not provided [RCV001359893]uncertain significance2026641842664184Humanname
151819829CV1422384single nucleotide variantNM_006899.5(IDH3B):c.8C>A (p.Ala3Glu)not provided [RCV001900772]uncertain significance2026641812664181Humanname
152100207CV1664087single nucleotide variantNM_006899.5(IDH3B):c.51C>A (p.Ala17=)not provided [RCV002078888]likely benign2026639912663991Humanname
156285077CV1904355single nucleotide variantNM_006899.5(IDH3B):c.42G>A (p.Leu14=)not provided [RCV002598526]likely benign2026640002664000Humanname
156055886CV2007960single nucleotide variantNM_006899.5(IDH3B):c.8C>T (p.Ala3Val)not provided [RCV002705220]uncertain significance2026641812664181Humanname
156052298CV2027399single nucleotide variantNM_006899.5(IDH3B):c.42G>C (p.Leu14=)not provided [RCV002736551]likely benign2026640002664000Humanname
156325639CV2054099single nucleotide variantNM_006899.5(IDH3B):c.45C>G (p.Val15=)not provided [RCV002810376]likely benign2026639972663997Humanname
156032389CV2156510single nucleotide variantNM_006899.5(IDH3B):c.33C>A (p.Thr11=)not provided [RCV003018728]likely benign2026641562664156Humanname
405216308CV3124617single nucleotide variantNM_006899.5(IDH3B):c.84C>T (p.Thr28=)not provided [RCV003823979]likely benign2026639582663958Humanname
402516857CV3135782single nucleotide variantNM_006899.5(IDH3B):c.93G>A (p.Ala31=)not provided [RCV003824408]likely benign2026639492663949Humanname
11652311CV335117single nucleotide variantNM_006899.5(IDH3B):c.66A>G (p.Ala22=)Retinitis pigmentosa [RCV000304066]|not provided [RCV005090532]likely benign|uncertain significance2026639762663976Human2name
26896004CV848265single nucleotide variantNM_006899.5(IDH3B):c.1A>G (p.Met1Val)Retinitis pigmentosa 46 [RCV005029650]|not provided [RCV001064375]likely pathogenic|uncertain significance2026641882664188Human1name , alternate_id
126733204CV1014055single nucleotide variantNM_006899.5(IDH3B):c.17G>T (p.Gly6Val)not provided [RCV001313350]uncertain significance2026641722664172Humanname
126763379CV1034633single nucleotide variantNM_006899.5(IDH3B):c.117G>A (p.Gln39=)not provided [RCV001341256]uncertain significance2026639252663925Humanname
127233003CV1085197single nucleotide variantNM_006899.5(IDH3B):c.162T>G (p.Leu54=)not provided [RCV001413710]likely benign2026637142663714Humanname
127272390CV1106919single nucleotide variantNM_006899.5(IDH3B):c.187C>T (p.Leu63=)not provided [RCV001442181]likely benign2026636892663689Humanname
127304217CV1128336single nucleotide variantNM_006899.5(IDH3B):c.201C>T (p.Val67=)not provided [RCV001454920]likely benign2026636752663675Humanname
151856015CV1373023single nucleotide variantNM_006899.5(IDH3B):c.10T>G (p.Leu4Val)not provided [RCV001996547]uncertain significance2026641792664179Humanname
152032615CV1537804single nucleotide variantNM_006899.5(IDH3B):c.289C>T (p.Leu97=)not provided [RCV002186930]likely benign2026634942663494Humanname
156351112CV1978398single nucleotide variantNM_006899.5(IDH3B):c.222C>T (p.Ala74=)not provided [RCV002601832]likely benign2026635612663561Humanname
156015647CV2010176single nucleotide variantNM_006899.5(IDH3B):c.264G>A (p.Val88=)not provided [RCV002735125]likely benign2026635192663519Humanname
156190177CV2144963single nucleotide variantNM_006899.5(IDH3B):c.14G>A (p.Ser5Asn)not provided [RCV003005976]|not specified [RCV004068536]uncertain significance2026641752664175Humanname
156302895CV2156658single nucleotide variantNM_006899.5(IDH3B):c.15C>A (p.Ser5Arg)not provided [RCV003010470]uncertain significance2026641742664174Humanname
156317338CV2161528single nucleotide variantNM_006899.5(IDH3B):c.15C>G (p.Ser5Arg)not provided [RCV003046383]uncertain significance2026641742664174Humanname
405216748CV2872582single nucleotide variantNM_006899.5(IDH3B):c.162T>C (p.Leu54=)not provided [RCV003553321]likely benign2026637142663714Humanname
402486906CV2928444single nucleotide variantNM_006899.5(IDH3B):c.153G>A (p.Val51=)not provided [RCV003572617]likely benign2026637232663723Humanname
405136847CV2963172single nucleotide variantNM_006899.5(IDH3B):c.195C>T (p.His65=)not provided [RCV003668861]likely benign2026636812663681Humanname
11624222CV335098single nucleotide variantNM_006899.5(IDH3B):c.252C>T (p.His84=)Retinitis pigmentosa [RCV000383200]|not provided [RCV001523369]|not specified [RCV001700070]benign|uncertain significance2026635312663531Human2name
14698349CV623907deletionNM_006899.5(IDH3B):c.59del (p.Pro20fs)not provided [RCV000787616]likely pathogenic2026639832663983Humanname
15151107CV742308single nucleotide variantNM_006899.5(IDH3B):c.165G>A (p.Pro55=)not provided [RCV000901294]likely benign2026637112663711Humanname
15196805CV773025single nucleotide variantNM_006899.5(IDH3B):c.261G>A (p.Glu87=)not provided [RCV000934323]likely benign2026635222663522Humanname
28887655CV885954single nucleotide variantNM_006899.5(IDH3B):c.16G>A (p.Gly6Arg)Retinitis pigmentosa [RCV001138119]uncertain significance2026641732664173Human2name
127272442CV1085196single nucleotide variantNM_006899.5(IDH3B):c.423C>T (p.Asn141=)not provided [RCV001405717]likely benign2026608052660805Humanname
127248033CV1106915single nucleotide variantNM_006899.5(IDH3B):c.984G>A (p.Ser328=)not provided [RCV001435730]likely benign2026597252659725Humanname
127270812CV1106916single nucleotide variantNM_006899.5(IDH3B):c.705A>G (p.Glu235=)not provided [RCV001441570]likely benign2026603262660326Humanname
127264637CV1106917single nucleotide variantNM_006899.5(IDH3B):c.489T>C (p.Ile163=)not provided [RCV001428898]likely benign2026607392660739Humanname
127271516CV1106918single nucleotide variantNM_006899.5(IDH3B):c.348T>C (p.His116=)not provided [RCV001430993]likely benign2026609592660959Humanname
127290885CV1128335single nucleotide variantNM_006899.5(IDH3B):c.579G>A (p.Lys193=)not provided [RCV001451362]likely benign2026605432660543Humanname
127336507CV1149270single nucleotide variantNM_006899.5(IDH3B):c.315G>A (p.Lys105=)not provided [RCV001492184]likely benign2026634682663468Humanname
151802691CV1364598single nucleotide variantNM_006899.5(IDH3B):c.82A>G (p.Thr28Ala)not provided [RCV001991098]uncertain significance2026639602663960Humanname
151781289CV1458286single nucleotide variantNM_006899.5(IDH3B):c.513C>T (p.Tyr171=)not provided [RCV001951101]likely benign2026607152660715Humanname
151829612CV1510382single nucleotide variantNM_006899.5(IDH3B):c.91G>A (p.Ala31Thr)not provided [RCV001920364]uncertain significance2026639512663951Humanname
152143280CV1526818single nucleotide variantNM_006899.5(IDH3B):c.582T>C (p.Ser194=)not provided [RCV002084450]likely benign2026605402660540Humanname
152147549CV1528603single nucleotide variantNM_006899.5(IDH3B):c.600C>T (p.Phe200=)not provided [RCV002101714]likely benign2026605222660522Humanname
152139177CV1533373single nucleotide variantNM_006899.5(IDH3B):c.468C>T (p.Asn156=)not provided [RCV002083923]likely benign2026607602660760Humanname
152174226CV1536179single nucleotide variantNM_006899.5(IDH3B):c.354G>A (p.Pro118=)not provided [RCV002144367]likely benign2026609532660953Humanname
152096310CV1631308single nucleotide variantNM_006899.5(IDH3B):c.972C>T (p.Ala324=)not provided [RCV002172497]likely benign2026597372659737Humanname
152172279CV1650656single nucleotide variantNM_006899.5(IDH3B):c.921C>T (p.Ala307=)not provided [RCV002162399]likely benign2026597882659788Humanname
155736798CV1774502single nucleotide variantNM_006899.5(IDH3B):c.88G>A (p.Ala30Thr)not provided [RCV002301958]uncertain significance2026639542663954Humanname
156446598CV1947942single nucleotide variantNM_006899.5(IDH3B):c.92C>T (p.Ala31Val)not provided [RCV003118109]uncertain significance2026639502663950Humanname
156092209CV2054536single nucleotide variantNM_006899.5(IDH3B):c.675G>T (p.Gly225=)not provided [RCV002824231]likely benign2026603562660356Humanname
155925245CV2073886single nucleotide variantNM_006899.5(IDH3B):c.990C>G (p.Ser330=)not provided [RCV002838498]likely benign2026597192659719Humanname
329358892CV2450738single nucleotide variantNM_006899.5(IDH3B):c.97C>T (p.His33Tyr)not specified [RCV004267675]uncertain significance2026639452663945Humanname
11637073CV273013single nucleotide variantNM_006899.5(IDH3B):c.981G>A (p.Leu327=)not provided [RCV000279599]conflicting interpretations of pathogenicity|uncertain significance2026597282659728Humanname
405167004CV2900889single nucleotide variantNM_006899.5(IDH3B):c.798G>A (p.Val266=)not provided [RCV003562822]likely benign2026601472660147Humanname
405218806CV2968806single nucleotide variantNM_006899.5(IDH3B):c.64G>T (p.Ala22Ser)not provided [RCV003680379]uncertain significance2026639782663978Humanname
405152856CV3123412single nucleotide variantNM_006899.5(IDH3B):c.969G>A (p.Thr323=)not provided [RCV003817645]likely benign2026597402659740Humanname
405263674CV3188841single nucleotide variantNM_006899.5(IDH3B):c.834C>T (p.Asp278=)Retinal dystrophy [RCV003890400]uncertain significance2026601112660111Human2name
11612524CV335097single nucleotide variantNM_006899.5(IDH3B):c.684G>A (p.Leu228=)Retinitis pigmentosa [RCV000260091]|not provided [RCV001423091]likely benign|uncertain significance2026603472660347Human2name
596941649CV3408277indelNM_006899.5(IDH3B):c.1000_1010+2delinsGRetinal dystrophy [RCV004815948]uncertain significance2026596972659709Humanname
596941687CV3408290single nucleotide variantNM_006899.5(IDH3B):c.783T>G (p.Pro261=)Retinal dystrophy [RCV004815961]uncertain significance2026601622660162Human2name
407466841CV3444430single nucleotide variantNM_006899.5(IDH3B):c.37G>T (p.Ala13Ser)not specified [RCV004635505]uncertain significance2026640052664005Humanname
11631751CV344889single nucleotide variantNM_006899.5(IDH3B):c.522G>T (p.Leu174=)Retinitis pigmentosa [RCV000386679]|not provided [RCV000591163]conflicting interpretations of pathogenicity|uncertain significance2026607062660706Human2name
11627978CV344892single nucleotide variantNM_006899.5(IDH3B):c.426A>G (p.Val142=)Retinitis pigmentosa [RCV000292272]|not provided [RCV005090531]likely benign|uncertain significance2026608022660802Human2name
597846118CV3736418single nucleotide variantNM_006899.5(IDH3B):c.501A>G (p.Thr167=)not provided [RCV005059996]likely benign2026607272660727Humanname
597941488CV3757408single nucleotide variantNM_006899.5(IDH3B):c.597G>A (p.Lys199=)not provided [RCV005077594]likely benign2026605252660525Humanname
597932713CV3780798single nucleotide variantNM_006899.5(IDH3B):c.843T>G (p.Ala281=)not provided [RCV005116910]likely benign2026601022660102Humanname
597968104CV3790642single nucleotide variantNM_006899.5(IDH3B):c.651C>T (p.His217=)not provided [RCV005140873]likely benign2026604712660471Humanname
597959514CV3815114single nucleotide variantNM_006899.5(IDH3B):c.924G>A (p.Arg308=)not provided [RCV005163241]likely benign2026597852659785Humanname
597876060CV3829777single nucleotide variantNM_006899.5(IDH3B):c.342G>A (p.Lys114=)not provided [RCV005177485]likely benign2026609652660965Humanname
13836275CV587546single nucleotide variantNM_006899.5(IDH3B):c.34C>T (p.Arg12Ter)Retinitis pigmentosa 46 [RCV002499364]|not provided [RCV000732343]conflicting interpretations of pathogenicity|uncertain significance2026641552664155Human1name , alternate_id
14393691CV610154single nucleotide variantNM_006899.5(IDH3B):c.74G>A (p.Gly25Asp)IDH3B-related disorder [RCV003908065]|not provided [RCV000756265]benign|likely benign2026639682663968Human1name , trait , alternate_id
15202694CV705417single nucleotide variantNM_006899.5(IDH3B):c.636G>A (p.Lys212=)Retinitis pigmentosa [RCV001137365]|not provided [RCV000957999]benign2026604862660486Human2name
28895803CV885950single nucleotide variantNM_006899.5(IDH3B):c.900C>T (p.Tyr300=)Retinitis pigmentosa [RCV001141015]|not provided [RCV001449437]likely benign|uncertain significance2026600452660045Human2name
28887660CV885953single nucleotide variantNM_006899.5(IDH3B):c.73G>A (p.Gly25Ser)Retinitis pigmentosa [RCV001138118]|not provided [RCV001244576]uncertain significance2026639692663969Human2name
38483684CV929150single nucleotide variantNM_006899.5(IDH3B):c.41T>C (p.Leu14Pro)not provided [RCV001219061]|not specified [RCV004032348]uncertain significance2026640012664001Humanname
126752909CV1014052single nucleotide variantNM_006899.5(IDH3B):c.273G>A (p.Met91Ile)not provided [RCV001316394]uncertain significance2026635102663510Humanname
126754828CV1014053single nucleotide variantNM_006899.5(IDH3B):c.127G>T (p.Val43Leu)Retinal dystrophy [RCV004815387]|not provided [RCV001327599]|not specified [RCV004035246]uncertain significance2026637492663749Human2name
126763763CV1014054single nucleotide variantNM_006899.5(IDH3B):c.124G>A (p.Asp42Asn)not provided [RCV001319375]uncertain significance2026637522663752Humanname
127247948CV1106912single nucleotide variantNM_006899.5(IDH3B):c.1158G>A (p.Ter386=)not provided [RCV001435716]likely benign2026587512658751Humanname
127269495CV1106913single nucleotide variantNM_006899.5(IDH3B):c.1080T>G (p.Thr360=)not provided [RCV001441088]likely benign2026588292658829Humanname
127278455CV1106914single nucleotide variantNM_006899.5(IDH3B):c.1035C>T (p.Ile345=)not provided [RCV001445084]likely benign2026595612659561Humanname
127290715CV1128331single nucleotide variantNM_006899.5(IDH3B):c.1119C>T (p.Ile373=)not provided [RCV001458513]likely benign2026587902658790Humanname
127301995CV1128333single nucleotide variantNM_006899.5(IDH3B):c.1023C>T (p.His341=)not provided [RCV001461521]likely benign2026595732659573Humanname
127322086CV1149269single nucleotide variantNM_006899.5(IDH3B):c.1146T>C (p.Thr382=)not provided [RCV001504973]likely benign2026587632658763Humanname
127291706CV1158770single nucleotide variantNM_006899.5(IDH3B):c.1143G>A (p.Gln381=)not provided [RCV001510517]benign2026587662658766Humanname
151868194CV1338447single nucleotide variantNM_006899.5(IDH3B):c.159G>A (p.Met53Ile)not provided [RCV001884801]uncertain significance2026637172663717Humanname
151787064CV1495517single nucleotide variantNM_006899.5(IDH3B):c.184G>T (p.Glu62Ter)not provided [RCV002026829]pathogenic|uncertain significance2026636922663692Humanname
152048007CV1519847single nucleotide variantNM_006899.5(IDH3B):c.1155C>T (p.Ser385=)not provided [RCV002145309]likely benign2026587542658754Humanname
152064803CV1576009single nucleotide variantNM_006899.5(IDH3B):c.1026C>T (p.Ser342=)not provided [RCV002209175]likely benign2026595702659570Humanname
152122939CV1603012single nucleotide variantNM_006899.5(IDH3B):c.1110C>T (p.Thr370=)not provided [RCV002198302]likely benign2026587992658799Humanname
152130625CV1636780single nucleotide variantNM_006899.5(IDH3B):c.1002G>C (p.Arg334=)not provided [RCV002199268]likely benign2026597072659707Humanname
152126400CV1641926single nucleotide variantNM_006899.5(IDH3B):c.1131C>T (p.Ile377=)not provided [RCV002176231]likely benign2026587782658778Humanname
152173174CV1652947single nucleotide variantNM_006899.5(IDH3B):c.1044G>A (p.Ala348=)not provided [RCV002144024]likely benign2026595522659552Humanname
155691361CV1772574single nucleotide variantNM_006899.5(IDH3B):c.263T>C (p.Val88Ala)not provided [RCV002294921]uncertain significance2026635202663520Humanname
155723160CV1773563single nucleotide variantNM_006899.5(IDH3B):c.121G>A (p.Glu41Lys)not provided [RCV002301368]uncertain significance2026637552663755Humanname
156357927CV2020224single nucleotide variantNM_006899.5(IDH3B):c.148C>A (p.Pro50Thr)not provided [RCV002720663]uncertain significance2026637282663728Humanname
156319901CV2025265single nucleotide variantNM_006899.5(IDH3B):c.1095C>G (p.Gly365=)not provided [RCV002717022]uncertain significance2026588142658814Humanname
8558744CV20544deletionNM_006899.5(IDH3B):c.589del (p.Ile197fs)Retinitis pigmentosa 46 [RCV000005840]pathogenic2026605332660533Human1name , alternate_id
156277527CV2064083single nucleotide variantNM_006899.5(IDH3B):c.136G>A (p.Glu46Lys)not provided [RCV002856267]uncertain significance2026637402663740Humanname
155939623CV2071502single nucleotide variantNM_006899.5(IDH3B):c.208G>C (p.Val70Leu)not provided [RCV002861682]uncertain significance2026636682663668Humanname
156298415CV2180554single nucleotide variantNM_006899.5(IDH3B):c.116A>G (p.Gln39Arg)not provided [RCV003027975]|not specified [RCV004632155]uncertain significance2026639262663926Humanname
156055100CV2243153single nucleotide variantNM_006899.5(IDH3B):c.139G>A (p.Gly47Ser)not specified [RCV004110057]uncertain significance2026637372663737Humanname
405026257CV3129674single nucleotide variantNM_006899.5(IDH3B):c.1092C>T (p.Gly364=)not provided [RCV003830272]likely benign2026588172658817Humanname
11649665CV335101single nucleotide variantNM_006899.5(IDH3B):c.161T>C (p.Leu54Pro)Retinitis pigmentosa [RCV000288605]|not provided [RCV001338794]uncertain significance2026637152663715Human2name
596939809CV3408072deletionNM_006899.5(IDH3B):c.430del (p.His144fs)Retinal dystrophy [RCV004814532]uncertain significance2026607982660798Human2name
11626623CV344870single nucleotide variantNM_006899.5(IDH3B):c.1047G>A (p.Val349=)Retinitis pigmentosa [RCV000266890]|not provided [RCV000968401]benign|likely benign|uncertain significance2026595492659549Human2name
11652173CV349787single nucleotide variantNM_006899.5(IDH3B):c.1014T>C (p.Leu338=)Retinitis pigmentosa [RCV000303339]|not provided [RCV001462884]likely benign|uncertain significance2026595822659582Human2name
597690950CV3720674single nucleotide variantNM_006899.5(IDH3B):c.107C>A (p.Ser36Ter)Retinitis pigmentosa 46 [RCV005032505]likely pathogenic2026639352663935Human1name , alternate_id
597908448CV3853712single nucleotide variantNM_006899.5(IDH3B):c.1107A>T (p.Thr369=)not provided [RCV005203195]likely benign2026588022658802Humanname
13516879CV489400indelNM_006899.5(IDH3B):c.665+8_665+9delinsTTnot provided [RCV000596070]uncertain significance2026604482660449Humanname
28900655CV885952single nucleotide variantNM_006899.5(IDH3B):c.160C>G (p.Leu54Val)Retinitis pigmentosa [RCV001142861]uncertain significance2026637162663716Human2name
38456143CV951024single nucleotide variantNM_006899.5(IDH3B):c.158T>C (p.Met53Thr)not provided [RCV001228256]uncertain significance2026637182663718Humanname
126749094CV998930single nucleotide variantNM_006899.5(IDH3B):c.196G>A (p.Ala66Thr)not provided [RCV001297068]|not specified [RCV004036055]uncertain significance2026636802663680Humanname
126734789CV1014050single nucleotide variantNM_006899.5(IDH3B):c.470A>G (p.Asn157Ser)not provided [RCV001313622]uncertain significance2026607582660758Humanname
126764636CV1014051single nucleotide variantNM_006899.5(IDH3B):c.391C>T (p.Arg131Trp)not provided [RCV001319725]uncertain significance2026609162660916Humanname
126747014CV1034629single nucleotide variantNM_006899.5(IDH3B):c.590T>C (p.Ile197Thr)not provided [RCV001337412]uncertain significance2026605322660532Humanname
126764651CV1034630single nucleotide variantNM_006899.5(IDH3B):c.542G>A (p.Gly181Asp)not provided [RCV001341735]uncertain significance2026605802660580Humanname
126769660CV1034631single nucleotide variantNM_006899.5(IDH3B):c.517T>G (p.Ser173Ala)not provided [RCV001344043]uncertain significance2026607112660711Humanname
126749640CV1034632single nucleotide variantNM_006899.5(IDH3B):c.400C>G (p.Arg134Gly)Retinal dystrophy [RCV004815394]|not provided [RCV001337889]|not specified [RCV004035848]uncertain significance2026608282660828Human2name
126911311CV1051644single nucleotide variantNM_006899.5(IDH3B):c.896A>C (p.Glu299Ala)not provided [RCV001369152]uncertain significance2026600492660049Humanname
150486108CV1250364microsatelliteNM_006899.5(IDH3B):c.1072-172_1072-170delnot provided [RCV001673977]benign2026590072659009Humanname
151801548CV1338067single nucleotide variantNM_006899.5(IDH3B):c.421A>G (p.Asn141Asp)not provided [RCV001932360]|not specified [RCV004927730]uncertain significance2026608072660807Humanname
151797830CV1346661single nucleotide variantNM_006899.5(IDH3B):c.901G>A (p.Ala301Thr)not provided [RCV001990668]uncertain significance2026600442660044Humanname
151822495CV1355319single nucleotide variantNM_006899.5(IDH3B):c.970G>A (p.Ala324Thr)not provided [RCV001934280]|not specified [RCV005350784]uncertain significance2026597392659739Humanname
151750482CV1360820single nucleotide variantNM_006899.5(IDH3B):c.461G>C (p.Arg154Pro)not provided [RCV001894280]uncertain significance2026607672660767Humanname
151877239CV1368803single nucleotide variantNM_006899.5(IDH3B):c.415T>C (p.Phe139Leu)not provided [RCV001999084]uncertain significance2026608132660813Humanname
151882303CV1371216single nucleotide variantNM_006899.5(IDH3B):c.629G>T (p.Arg210Leu)not provided [RCV001886699]uncertain significance2026604932660493Humanname
151846512CV1386584single nucleotide variantNM_006899.5(IDH3B):c.632G>A (p.Gly211Asp)not provided [RCV001882014]uncertain significance2026604902660490Humanname
151850102CV1389723single nucleotide variantNM_006899.5(IDH3B):c.527A>G (p.His176Arg)not provided [RCV001937231]uncertain significance2026607012660701Humanname
151882091CV1395992single nucleotide variantNM_006899.5(IDH3B):c.788A>G (p.Gln263Arg)not provided [RCV002037061]uncertain significance2026601572660157Humanname
151836345CV1398065single nucleotide variantNM_006899.5(IDH3B):c.923G>A (p.Arg308Gln)not provided [RCV001977183]|not specified [RCV004042212]uncertain significance2026597862659786Humanname
151731031CV1421262single nucleotide variantNM_006899.5(IDH3B):c.992A>G (p.Asn331Ser)not provided [RCV001892253]|not specified [RCV004041191]uncertain significance2026597172659717Humanname
151846813CV1423972single nucleotide variantNM_006899.5(IDH3B):c.586C>G (p.Arg196Gly)not provided [RCV001995444]uncertain significance2026605362660536Humanname
151849128CV1439967single nucleotide variantNM_006899.5(IDH3B):c.875C>T (p.Pro292Leu)not provided [RCV002016334]uncertain significance2026600702660070Humanname
151840036CV1462904single nucleotide variantNM_006899.5(IDH3B):c.529G>A (p.Glu177Lys)not provided [RCV002031709]uncertain significance2026606992660699Humanname
151779024CV1468899single nucleotide variantNM_006899.5(IDH3B):c.490C>T (p.Arg164Ter)not provided [RCV002045979]pathogenic|uncertain significance2026607382660738Humanname
151876833CV1479391single nucleotide variantNM_006899.5(IDH3B):c.477C>G (p.Asp159Glu)not provided [RCV001885963]uncertain significance2026607512660751Humanname
151827607CV1479826single nucleotide variantNM_006899.5(IDH3B):c.460C>T (p.Arg154Trp)Retinal dystrophy [RCV003888898]|not provided [RCV001901485]uncertain significance2026607682660768Human2name
151837901CV1492426single nucleotide variantNM_006899.5(IDH3B):c.571C>G (p.Arg191Gly)not provided [RCV002051415]uncertain significance2026605512660551Humanname
151716497CV1513076single nucleotide variantNM_006899.5(IDH3B):c.973A>C (p.Met325Leu)not provided [RCV001890413]uncertain significance2026597362659736Humanname
155669634CV1770933single nucleotide variantNM_006899.5(IDH3B):c.487A>G (p.Ile163Val)not provided [RCV002297266]uncertain significance2026607412660741Humanname
155713067CV1775930single nucleotide variantNM_006899.5(IDH3B):c.859G>A (p.Gly287Arg)not provided [RCV002296279]uncertain significance2026600862660086Humanname
155682062CV1776757single nucleotide variantNM_006899.5(IDH3B):c.674G>A (p.Gly225Glu)not provided [RCV002298293]uncertain significance2026603572660357Humanname
156343632CV1974271single nucleotide variantNM_006899.5(IDH3B):c.737A>G (p.Glu246Gly)not provided [RCV002601414]uncertain significance2026602942660294Humanname
156343621CV1981694single nucleotide variantNM_006899.5(IDH3B):c.922C>T (p.Arg308Trp)not provided [RCV002631558]|not specified [RCV004066587]uncertain significance2026597872659787Humanname
156415234CV1990889single nucleotide variantNM_006899.5(IDH3B):c.601G>A (p.Ala201Thr)not provided [RCV002609573]uncertain significance2026605212660521Humanname
156404522CV1993368single nucleotide variantNM_006899.5(IDH3B):c.968C>T (p.Thr323Met)not provided [RCV002658072]|not specified [RCV004066661]uncertain significance2026597412659741Humanname
156271893CV2004187single nucleotide variantNM_006899.5(IDH3B):c.366G>C (p.Lys122Asn)not provided [RCV002646560]uncertain significance2026609412660941Humanname
156080330CV2011974single nucleotide variantNM_006899.5(IDH3B):c.856G>C (p.Gly286Arg)not provided [RCV002705969]uncertain significance2026600892660089Humanname
156398952CV2013127single nucleotide variantNM_006899.5(IDH3B):c.670C>A (p.Leu224Ile)not provided [RCV002725834]uncertain significance2026603612660361Humanname
156222480CV2037760single nucleotide variantNM_006899.5(IDH3B):c.887A>G (p.Tyr296Cys)not provided [RCV002790680]uncertain significance2026600582660058Humanname
8558745CV20545single nucleotide variantNM_006899.5(IDH3B):c.395T>C (p.Leu132Pro)Retinitis pigmentosa 46 [RCV000005841]|not provided [RCV003555931]pathogenic|uncertain significance2026609122660912Human1name , alternate_id
156164735CV2056558single nucleotide variantNM_006899.5(IDH3B):c.399G>T (p.Arg133Ser)not provided [RCV002801760]uncertain significance2026608292660829Humanname
155919278CV2148757single nucleotide variantNM_006899.5(IDH3B):c.677A>G (p.Asp226Gly)not provided [RCV002991820]uncertain significance2026603542660354Humanname
156358846CV2187370single nucleotide variantNM_006899.5(IDH3B):c.691C>T (p.Gln231Ter)not provided [RCV003048875]pathogenic|uncertain significance2026603402660340Humanname
11641786CV271937single nucleotide variantNM_006899.5(IDH3B):c.818A>G (p.Tyr273Cys)not provided [RCV000362984]uncertain significance2026601272660127Humanname
405091194CV3025885single nucleotide variantNM_006899.5(IDH3B):c.794A>T (p.Asp265Val)not provided [RCV003699746]uncertain significance2026601512660151Humanname
404978830CV3175989single nucleotide variantNM_006899.5(IDH3B):c.628C>T (p.Arg210Trp)not provided [RCV003880089]uncertain significance2026604942660494Humanname
405263671CV3188839single nucleotide variantNM_006899.5(IDH3B):c.880G>A (p.Glu294Lys)Retinal dystrophy [RCV003890398]uncertain significance2026600652660065Human2name
405782452CV3267290single nucleotide variantNM_006899.5(IDH3B):c.325G>C (p.Val109Leu)not specified [RCV004397856]uncertain significance2026634582663458Humanname
405791644CV3267292single nucleotide variantNM_006899.5(IDH3B):c.652A>G (p.Lys218Glu)not specified [RCV004399928]uncertain significance2026604702660470Humanname
405791647CV3267293single nucleotide variantNM_006899.5(IDH3B):c.654G>T (p.Lys218Asn)not specified [RCV004399929]uncertain significance2026604682660468Humanname
11659459CV335094single nucleotide variantNM_006899.5(IDH3B):c.917G>A (p.Gly306Asp)Retinitis pigmentosa [RCV000358185]uncertain significance2026597922659792Human2name
596939818CV3408077single nucleotide variantNM_006899.5(IDH3B):c.908T>C (p.Phe303Ser)Retinal dystrophy [RCV004814537]uncertain significance2026600372660037Human2name
596941652CV3408278single nucleotide variantNM_006899.5(IDH3B):c.998T>C (p.Leu333Pro)Retinal dystrophy [RCV004815949]uncertain significance2026597112659711Human2name
11645132CV344874single nucleotide variantNM_006899.5(IDH3B):c.916G>T (p.Gly306Cys)Retinitis pigmentosa [RCV000263764]uncertain significance2026597932659793Human2name
11631304CV349788single nucleotide variantNM_006899.5(IDH3B):c.830T>C (p.Ile277Thr)Optic atrophy [RCV004816587]|Retinal dystrophy [RCV004816586]|Retinitis pigmentosa [RCV000373525]|not provided [RCV001040488]|not specified [RCV004021829]uncertain significance2026601152660115Human6name
11629828CV349790single nucleotide variantNM_006899.5(IDH3B):c.624G>C (p.Lys208Asn)Retinitis pigmentosa [RCV000334005]|not provided [RCV001228709]|not specified [RCV004021830]uncertain significance2026604982660498Human2name
597762528CV3683070single nucleotide variantNM_006899.5(IDH3B):c.392G>A (p.Arg131Gln)not specified [RCV004926144]uncertain significance2026609152660915Humanname
597762532CV3683071single nucleotide variantNM_006899.5(IDH3B):c.600C>G (p.Phe200Leu)not specified [RCV004926145]uncertain significance2026605222660522Humanname
597762537CV3683072single nucleotide variantNM_006899.5(IDH3B):c.353C>T (p.Pro118Leu)not specified [RCV004926146]uncertain significance2026609542660954Humanname
597651512CV3720671single nucleotide variantNM_006899.5(IDH3B):c.667A>T (p.Lys223Ter)Retinitis pigmentosa 46 [RCV005026893]likely pathogenic2026603642660364Human1name , alternate_id
597651518CV3720672single nucleotide variantNM_006899.5(IDH3B):c.571C>T (p.Arg191Ter)Retinitis pigmentosa 46 [RCV005026894]|not provided [RCV005112789]pathogenic|likely pathogenic2026605512660551Human1name , alternate_id
597690937CV3720673single nucleotide variantNM_006899.5(IDH3B):c.373C>G (p.Leu125Val)Retinitis pigmentosa 46 [RCV005032504]uncertain significance2026609342660934Human1name , alternate_id
598257665CV3979059single nucleotide variantNM_006899.5(IDH3B):c.629G>A (p.Arg210Gln)not specified [RCV005347038]uncertain significance2026604932660493Humanname
598257676CV3979061single nucleotide variantNM_006899.5(IDH3B):c.424G>A (p.Val142Ile)not specified [RCV005347040]uncertain significance2026608042660804Humanname
26918099CV848262single nucleotide variantNM_006899.5(IDH3B):c.722C>T (p.Pro241Leu)not provided [RCV001042901]uncertain significance2026603092660309Humanname
26887865CV848263single nucleotide variantNM_006899.5(IDH3B):c.684G>T (p.Leu228Phe)not provided [RCV001056890]uncertain significance2026603472660347Humanname
26893748CV848264single nucleotide variantNM_006899.5(IDH3B):c.539G>A (p.Arg180Lys)not provided [RCV001062898]uncertain significance2026605832660583Humanname
28895807CV885951single nucleotide variantNM_006899.5(IDH3B):c.706G>C (p.Val236Leu)Retinitis pigmentosa [RCV001141016]uncertain significance2026603252660325Human2name
38497600CV951023single nucleotide variantNM_006899.5(IDH3B):c.756C>G (p.Asn252Lys)not provided [RCV001227188]uncertain significance2026602752660275Humanname
38464200CV958800single nucleotide variantNM_006899.5(IDH3B):c.914C>T (p.Thr305Met)not provided [RCV001247357]uncertain significance2026600312660031Humanname
38491710CV958801single nucleotide variantNM_006899.5(IDH3B):c.812A>G (p.Asn271Ser)not provided [RCV001239618]|not specified [RCV004034622]uncertain significance2026601332660133Humanname
38461532CV958802single nucleotide variantNM_006899.5(IDH3B):c.685T>C (p.Phe229Leu)not provided [RCV001246979]uncertain significance2026603462660346Humanname
38493690CV958803single nucleotide variantNM_006899.5(IDH3B):c.532A>G (p.Ser178Gly)not provided [RCV001240855]uncertain significance2026605902660590Humanname
39456879CV965641single nucleotide variantNM_006899.5(IDH3B):c.857G>A (p.Gly286Glu)Retinitis pigmentosa 46 [RCV001255191]|not provided [RCV001879933]|not specified [RCV004690036]pathogenic|uncertain significance2026600882660088Human1name , alternate_id
126756292CV998927single nucleotide variantNM_006899.5(IDH3B):c.712G>A (p.Glu238Lys)not provided [RCV001298541]uncertain significance2026603192660319Humanname
126738098CV998928single nucleotide variantNM_006899.5(IDH3B):c.586C>T (p.Arg196Trp)not provided [RCV001304958]|not specified [RCV004629549]uncertain significance2026605362660536Humanname
126758158CV998929single nucleotide variantNM_006899.5(IDH3B):c.425T>C (p.Val142Ala)not provided [RCV001308631]uncertain significance2026608032660803Humanname
126768311CV1014048single nucleotide variantNM_006899.5(IDH3B):c.1079C>T (p.Thr360Ile)not provided [RCV001321293]uncertain significance2026588302658830Humanname
126742652CV1034628single nucleotide variantNM_006899.5(IDH3B):c.1154G>C (p.Ser385Thr)not provided [RCV001351040]uncertain significance2026587552658755Humanname
151716509CV1346003single nucleotide variantNM_006899.5(IDH3B):c.1059C>G (p.Ile353Met)not provided [RCV001965308]uncertain significance2026595372659537Humanname
151785759CV1348828single nucleotide variantNM_006899.5(IDH3B):c.1048A>G (p.Lys350Glu)not provided [RCV001897669]uncertain significance2026595482659548Humanname
151667680CV1354034single nucleotide variantNM_006899.5(IDH3B):c.1019A>G (p.Tyr340Cys)not provided [RCV001963813]uncertain significance2026595772659577Humanname
151770504CV1366224single nucleotide variantNM_006899.5(IDH3B):c.1091G>A (p.Gly364Asp)not provided [RCV001929474]uncertain significance2026588182658818Humanname
151814628CV1382379single nucleotide variantNM_006899.5(IDH3B):c.1147A>G (p.Lys383Glu)not provided [RCV001992164]uncertain significance2026587622658762Humanname
151713495CV1384195single nucleotide variantNM_006899.5(IDH3B):c.1036G>A (p.Ala346Thr)not provided [RCV001908487]|not specified [RCV004927743]uncertain significance2026595602659560Humanname
151790659CV1393128single nucleotide variantNM_006899.5(IDH3B):c.1000C>T (p.Arg334Trp)Retinal dystrophy [RCV003888924]|not provided [RCV001931385]|not specified [RCV004041935]uncertain significance2026597092659709Human2name
151886694CV1499644single nucleotide variantNM_006899.5(IDH3B):c.1117A>G (p.Ile373Val)not provided [RCV001887620]uncertain significance2026587922658792Humanname
156409986CV1962056single nucleotide variantNM_006899.5(IDH3B):c.1030A>G (p.Met344Val)not provided [RCV002587009]uncertain significance2026595662659566Humanname
155980005CV2073315single nucleotide variantNM_006899.5(IDH3B):c.1007T>C (p.Leu336Pro)not provided [RCV002842470]uncertain significance2026597022659702Humanname
156230023CV2164972single nucleotide variantNM_006899.5(IDH3B):c.1101C>A (p.Ser367Arg)not provided [RCV003043050]uncertain significance2026588082658808Humanname
156370347CV2174408single nucleotide variantNM_006899.5(IDH3B):c.1042G>C (p.Ala348Pro)not provided [RCV003049648]uncertain significance2026595542659554Humanname
401769927CV2718953single nucleotide variantNM_006899.5(IDH3B):c.1126G>C (p.Val376Leu)not specified [RCV004322546]uncertain significance2026587832658783Humanname
405152896CV3031557single nucleotide variantNM_006899.5(IDH3B):c.1001G>A (p.Arg334Gln)not provided [RCV003703414]uncertain significance2026597082659708Humanname
405263667CV3188836single nucleotide variantNM_006899.5(IDH3B):c.1081C>G (p.Arg361Gly)Retinal dystrophy [RCV003890395]uncertain significance2026588282658828Human2name
405263670CV3188838single nucleotide variantNM_006899.5(IDH3B):c.1075C>G (p.Arg359Gly)Retinal dystrophy [RCV003890397]uncertain significance2026588342658834Human2name
11621305CV335080single nucleotide variantNM_006899.5(IDH3B):c.1132G>A (p.Gly378Ser)Retinitis pigmentosa [RCV000347016]|not provided [RCV001423796]likely benign|uncertain significance2026587772658777Human2name
11659894CV335090single nucleotide variantNM_006899.5(IDH3B):c.1061A>G (p.Lys354Arg)Retinitis pigmentosa [RCV000362059]uncertain significance2026595352659535Human2name
407466837CV3444431single nucleotide variantNM_006899.5(IDH3B):c.1025C>T (p.Ser342Phe)not specified [RCV004635506]uncertain significance2026595712659571Humanname
11628686CV349785single nucleotide variantNM_006899.5(IDH3B):c.1082G>A (p.Arg361Gln)Retinitis pigmentosa [RCV000307368]|not provided [RCV001861162]|not specified [RCV004021828]uncertain significance2026588272658827Human2name
598257671CV3979060single nucleotide variantNM_006899.5(IDH3B):c.1057A>C (p.Ile353Leu)not specified [RCV005347039]uncertain significance2026595392659539Humanname
26914006CV848260single nucleotide variantNM_006899.5(IDH3B):c.1111G>A (p.Asp371Asn)not provided [RCV001036894]uncertain significance2026587982658798Humanname
26891563CV848261single nucleotide variantNM_006899.5(IDH3B):c.1076G>A (p.Arg359Gln)not provided [RCV001060626]uncertain significance2026588332658833Humanname
28887181CV885949single nucleotide variantNM_006899.5(IDH3B):c.1145C>G (p.Thr382Ser)Retinitis pigmentosa [RCV001138026]|not provided [RCV001305132]uncertain significance2026587642658764Human2name
38497598CV951022single nucleotide variantNM_006899.5(IDH3B):c.1151G>A (p.Gly384Glu)not provided [RCV001227187]uncertain significance2026587582658758Humanname
126733997CV998925single nucleotide variantNM_006899.5(IDH3B):c.1131C>G (p.Ile377Met)not provided [RCV001294839]uncertain significance2026587782658778Humanname
126732185CV998926single nucleotide variantNM_006899.5(IDH3B):c.1081C>T (p.Arg361Ter)not provided [RCV001304041]uncertain significance2026588282658828Humanname
151872032CV1435108deletionNM_006899.5(IDH3B):c.128_138del (p.Val43fs)not provided [RCV001939936]pathogenic|uncertain significance2026637382663748Humanname
155959797CV2088913microsatelliteNM_006899.5(IDH3B):c.280GAG[1] (p.Glu95del)not provided [RCV002880963]uncertain significance2026634982663500Humanname
126910939CV1051645deletionNM_006899.5(IDH3B):c.551_554del (p.Glu184fs)Retinitis pigmentosa 46 [RCV005023103]|not provided [RCV001368980]pathogenic|likely pathogenic|uncertain significance2026605682660571Human1name , alternate_id
597690924CV3720669deletionNM_006899.5(IDH3B):c.918_924del (p.Ala307fs)Retinitis pigmentosa 46 [RCV005032503]likely pathogenic2026597852659791Human1name , alternate_id
597651502CV3720670deletionNM_006899.5(IDH3B):c.700_703del (p.Glu234fs)Retinitis pigmentosa 46 [RCV005026892]likely pathogenic2026603282660331Human1name , alternate_id
156260941CV1960639microsatelliteNM_006899.5(IDH3B):c.1048AAG[1] (p.Lys351del)not provided [RCV002576843]uncertain significance2026595432659545Humanname
11625599CV335089microsatelliteNM_006899.5(IDH3B):c.1115TCA[1] (p.Ile373del)Retinal dystrophy [RCV004816584]|Retinitis Pigmentosa, Recessive [RCV000401029]|Retinitis pigmentosa 46 [RCV002504140]|not provided [RCV001234998]uncertain significance2026587892658791Humanname , alternate_id
151797337CV1476570indelNM_006899.5(IDH3B):c.37-18_117+71delinsGACCTTAnot provided [RCV001931987]uncertain significance2026638542664023Humanname
155965720CV1977994deletionNM_006899.5(IDH3B):c.1120_1121del (p.Lys374fs)not provided [RCV002616945]uncertain significance2026587882658789Humanname
405263666CV3188835insertionNM_006899.5(IDH3B):c.1081_1082insTAGGT (p.Arg361fs)Retinal dystrophy [RCV003890394]uncertain significance2026588272658828Human2name
405263668CV3188837deletionNM_006899.5(IDH3B):c.1076_1078del (p.Arg359_Thr360delinsPro)Retinal dystrophy [RCV003890396]uncertain significance2026588312658833Human2name