| 596944469 | CV3408906 | single nucleotide variant | NM_006899.5(IDH3B):c.-11C>T | Optic atrophy [RCV004817559] | uncertain significance | 20 | 2664199 | 2664199 | Human | 2 | name |
| 151824665 | CV1350980 | single nucleotide variant | NM_006899.5(IDH3B):c.36+1G>A | not provided [RCV001919907] | likely pathogenic|uncertain significance | 20 | 2664152 | 2664152 | Human | | name |
| 405210088 | CV2866871 | single nucleotide variant | NM_006899.5(IDH3B):c.37-8T>C | not provided [RCV003552357] | likely benign | 20 | 2664013 | 2664013 | Human | | name |
| 405295312 | CV3209382 | single nucleotide variant | NM_006899.5(IDH3B):c.*224C>A | IDH3B-related disorder [RCV003937257] | likely benign | 20 | 2658527 | 2658527 | Human | | name , trait , alternate_id |
| 11621580 | CV335079 | single nucleotide variant | NM_006899.5(IDH3B):c.*235A>G | Retinitis pigmentosa [RCV000350400]|not provided [RCV001707664] | benign|likely benign | 20 | 2658516 | 2658516 | Human | 2 | name |
| 11628105 | CV344861 | single nucleotide variant | NM_006899.5(IDH3B):c.*253T>C | Retinitis pigmentosa [RCV000295524] | uncertain significance | 20 | 2658498 | 2658498 | Human | 2 | name |
| 11663631 | CV350800 | single nucleotide variant | NM_006899.5(IDH3B):c.*212A>G | Retinitis pigmentosa [RCV000397694] | uncertain significance | 20 | 2658539 | 2658539 | Human | 2 | name |
| 11628846 | CV350801 | single nucleotide variant | NM_006899.5(IDH3B):c.*203T>C | Retinitis pigmentosa [RCV000310665] | uncertain significance | 20 | 2658548 | 2658548 | Human | 2 | name |
| 26920204 | CV851843 | single nucleotide variant | NM_006899.5(IDH3B):c.37-1G>A | not provided [RCV001047116] | likely pathogenic|uncertain significance | 20 | 2664006 | 2664006 | Human | | name |
| 28887173 | CV885947 | single nucleotide variant | NM_006899.5(IDH3B):c.*177A>G | Retinitis pigmentosa [RCV001138024] | uncertain significance | 20 | 2658574 | 2658574 | Human | 2 | name |
| 28887179 | CV885948 | single nucleotide variant | NM_006899.5(IDH3B):c.*139G>A | Retinitis pigmentosa [RCV001138025] | uncertain significance | 20 | 2658612 | 2658612 | Human | 2 | name |
| 8642357 | CV101341 | single nucleotide variant | NM_006899.5(IDH3B):c.117+6C>A | IDH3B-related disorder [RCV003935056]|Retinitis pigmentosa [RCV000395761]|not provided [RCV000970913]|not specified [RCV000081467] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 20 | 2663919 | 2663919 | Human | 3 | name , trait , alternate_id |
| 127329748 | CV1128334 | single nucleotide variant | NM_006899.5(IDH3B):c.665+8G>C | not provided [RCV001470406] | likely benign | 20 | 2660449 | 2660449 | Human | | name |
| 150439289 | CV1266752 | single nucleotide variant | NM_006899.5(IDH3B):c.37-34G>T | not provided [RCV001690187] | benign | 20 | 2664039 | 2664039 | Human | | name |
| 151854304 | CV1455692 | single nucleotide variant | NM_006899.5(IDH3B):c.768+2T>G | not provided [RCV002016986] | likely pathogenic|uncertain significance | 20 | 2660261 | 2660261 | Human | | name |
| 151850100 | CV1464852 | single nucleotide variant | NM_006899.5(IDH3B):c.398+5G>T | not provided [RCV001995849] | uncertain significance | 20 | 2660904 | 2660904 | Human | | name |
| 152175673 | CV1527053 | single nucleotide variant | NM_006899.5(IDH3B):c.399-9C>T | not provided [RCV002163809] | likely benign | 20 | 2660838 | 2660838 | Human | | name |
| 152151049 | CV1559601 | single nucleotide variant | NM_006899.5(IDH3B):c.37-18T>G | not provided [RCV002220821] | likely benign | 20 | 2664023 | 2664023 | Human | | name |
| 152045825 | CV1600219 | single nucleotide variant | NM_006899.5(IDH3B):c.768+8C>G | not provided [RCV002088537] | likely benign | 20 | 2660255 | 2660255 | Human | | name |
| 156323015 | CV1988508 | single nucleotide variant | NM_006899.5(IDH3B):c.532-9C>G | not provided [RCV002649375] | likely benign | 20 | 2660599 | 2660599 | Human | | name |
| 156154449 | CV2023234 | single nucleotide variant | NM_006899.5(IDH3B):c.117+1G>T | not provided [RCV002741328] | likely pathogenic|uncertain significance | 20 | 2663924 | 2663924 | Human | | name |
| 156348666 | CV2061972 | single nucleotide variant | NM_006899.5(IDH3B):c.337+8T>G | not provided [RCV002811617] | likely benign | 20 | 2663438 | 2663438 | Human | | name |
| 155993061 | CV2063853 | single nucleotide variant | NM_006899.5(IDH3B):c.217-5T>G | not provided [RCV002843049] | likely benign | 20 | 2663571 | 2663571 | Human | | name |
| 156206515 | CV2076740 | single nucleotide variant | NM_006899.5(IDH3B):c.915+5G>A | not provided [RCV002852663] | uncertain significance | 20 | 2660025 | 2660025 | Human | | name |
| 155947392 | CV2077282 | single nucleotide variant | NM_006899.5(IDH3B):c.399-6C>T | not provided [RCV002880301] | likely benign | 20 | 2660835 | 2660835 | Human | | name |
| 156286539 | CV2134182 | single nucleotide variant | NM_006899.5(IDH3B):c.531+7C>G | not provided [RCV003009792] | likely benign | 20 | 2660690 | 2660690 | Human | | name |
| 155967435 | CV2180199 | single nucleotide variant | NM_006899.5(IDH3B):c.532-2A>G | not provided [RCV003033234] | likely pathogenic|uncertain significance | 20 | 2660592 | 2660592 | Human | | name |
| 405216418 | CV2872480 | single nucleotide variant | NM_006899.5(IDH3B):c.117+3A>G | not provided [RCV003553255] | uncertain significance | 20 | 2663922 | 2663922 | Human | | name |
| 405234808 | CV3155593 | single nucleotide variant | NM_006899.5(IDH3B):c.916-4A>G | not provided [RCV003853571] | likely benign | 20 | 2659797 | 2659797 | Human | | name |
| 11630189 | CV344895 | single nucleotide variant | NM_006899.5(IDH3B):c.118-3G>C | Retinitis pigmentosa 46 [RCV001702617]|Retinitis pigmentosa [RCV000343632]|not provided [RCV001523417] | benign | 20 | 2663761 | 2663761 | Human | 3 | name , alternate_id |
| 597969402 | CV3753320 | single nucleotide variant | NM_006899.5(IDH3B):c.118-6A>T | not provided [RCV005083804] | likely benign | 20 | 2663764 | 2663764 | Human | | name |
| 597974199 | CV3801821 | single nucleotide variant | NM_006899.5(IDH3B):c.531+1G>C | not provided [RCV005143810] | likely pathogenic | 20 | 2660696 | 2660696 | Human | | name |
| 13523082 | CV488713 | single nucleotide variant | NM_006899.5(IDH3B):c.665+9C>T | not provided [RCV000592552] | uncertain significance | 20 | 2660448 | 2660448 | Human | | name |
| 13516450 | CV488714 | single nucleotide variant | NM_006899.5(IDH3B):c.665+8G>T | not provided [RCV000595539] | conflicting interpretations of pathogenicity|uncertain significance | 20 | 2660449 | 2660449 | Human | | name |
| 14693672 | CV620918 | single nucleotide variant | NM_006899.5(IDH3B):c.768+1G>T | not provided [RCV003669171] | likely pathogenic|uncertain significance | 20 | 2660262 | 2660262 | Human | | name |
| 28895799 | CV887439 | single nucleotide variant | NM_006899.5(IDH3B):c.916-8C>T | Retinitis pigmentosa [RCV001141014] | uncertain significance | 20 | 2659801 | 2659801 | Human | 2 | name |
| 28887664 | CV887442 | single nucleotide variant | NM_006899.5(IDH3B):c.118-6A>G | Retinal dystrophy [RCV004813790]|Retinitis pigmentosa [RCV001138117]|not provided [RCV001856764] | uncertain significance | 20 | 2663764 | 2663764 | Human | 4 | name |
| 38470989 | CV940499 | single nucleotide variant | NM_006899.5(IDH3B):c.216+3G>T | not provided [RCV001202632] | uncertain significance | 20 | 2663657 | 2663657 | Human | | name |
| 38488694 | CV960313 | single nucleotide variant | NM_006899.5(IDH3B):c.398+3A>C | not provided [RCV001238105] | uncertain significance | 20 | 2660906 | 2660906 | Human | | name |
| 38457341 | CV960937 | single nucleotide variant | NM_006899.5(IDH3B):c.531+6G>T | not provided [RCV001246038] | uncertain significance | 20 | 2660691 | 2660691 | Human | | name |
| 126741822 | CV1014049 | single nucleotide variant | NM_006899.5(IDH3B):c.1072-1G>A | not provided [RCV001325394] | uncertain significance | 20 | 2658838 | 2658838 | Human | | name |
| 127239188 | CV1085195 | duplication | NM_006899.5(IDH3B):c.666-11dup | not provided [RCV001415275] | likely benign | 20 | 2660373 | 2660374 | Human | | name |
| 127322984 | CV1158771 | single nucleotide variant | NM_006899.5(IDH3B):c.117+13C>G | not provided [RCV001523760] | benign | 20 | 2663912 | 2663912 | Human | | name |
| 150455937 | CV1220533 | single nucleotide variant | NM_006899.5(IDH3B):c.916-49A>G | not provided [RCV001612626] | benign | 20 | 2659842 | 2659842 | Human | | name |
| 151722987 | CV1346732 | single nucleotide variant | NM_006899.5(IDH3B):c.1071+5G>A | not provided [RCV001966238] | uncertain significance | 20 | 2659520 | 2659520 | Human | | name |
| 151796330 | CV1421540 | single nucleotide variant | NM_006899.5(IDH3B):c.1071+3G>A | not provided [RCV001917293] | uncertain significance | 20 | 2659522 | 2659522 | Human | | name |
| 151711128 | CV1443711 | single nucleotide variant | NM_006899.5(IDH3B):c.1071+4A>T | not provided [RCV001908029] | uncertain significance | 20 | 2659521 | 2659521 | Human | | name |
| 152099962 | CV1524710 | single nucleotide variant | NM_006899.5(IDH3B):c.915+19T>C | not provided [RCV002172964] | likely benign | 20 | 2660011 | 2660011 | Human | | name |
| 152169526 | CV1529244 | single nucleotide variant | NM_006899.5(IDH3B):c.118-20C>T | not provided [RCV002161474] | likely benign | 20 | 2663778 | 2663778 | Human | | name |
| 152150983 | CV1559590 | single nucleotide variant | NM_006899.5(IDH3B):c.118-10C>T | not provided [RCV002220812] | likely benign | 20 | 2663768 | 2663768 | Human | | name |
| 152035263 | CV1583003 | single nucleotide variant | NM_006899.5(IDH3B):c.532-12C>A | not provided [RCV002106879] | likely benign | 20 | 2660602 | 2660602 | Human | | name |
| 152127741 | CV1583665 | single nucleotide variant | NM_006899.5(IDH3B):c.398+12G>A | not provided [RCV002198910] | likely benign | 20 | 2660897 | 2660897 | Human | | name |
| 152167529 | CV1600778 | single nucleotide variant | NM_006899.5(IDH3B):c.666-18C>T | not provided [RCV002160892] | likely benign | 20 | 2660383 | 2660383 | Human | | name |
| 152135615 | CV1624519 | single nucleotide variant | NM_006899.5(IDH3B):c.216+10C>T | not provided [RCV002177380] | likely benign | 20 | 2663650 | 2663650 | Human | | name |
| 152070412 | CV1628389 | single nucleotide variant | NM_006899.5(IDH3B):c.769-18C>T | not provided [RCV002169215] | likely benign | 20 | 2660194 | 2660194 | Human | | name |
| 152170341 | CV1663324 | single nucleotide variant | NM_006899.5(IDH3B):c.337+20A>G | not provided [RCV002183119] | likely benign | 20 | 2663426 | 2663426 | Human | | name |
| 10049863 | CV191053 | single nucleotide variant | NM_006899.5(IDH3B):c.1011-9T>C | not provided [RCV000174117] | conflicting interpretations of pathogenicity|uncertain significance | 20 | 2659594 | 2659594 | Human | | name |
| 10049987 | CV191242 | single nucleotide variant | NM_006899.5(IDH3B):c.1072-4G>A | IDH3B-related disorder [RCV003927594]|not provided [RCV000174356] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 20 | 2658841 | 2658841 | Human | 1 | name , trait , alternate_id |
| 156380828 | CV1978631 | single nucleotide variant | NM_006899.5(IDH3B):c.337+14C>T | not provided [RCV002603952] | likely benign | 20 | 2663432 | 2663432 | Human | | name |
| 156381954 | CV1994942 | single nucleotide variant | NM_006899.5(IDH3B):c.398+16G>C | not provided [RCV002653725] | likely benign | 20 | 2660893 | 2660893 | Human | | name |
| 156337020 | CV1997266 | single nucleotide variant | NM_006899.5(IDH3B):c.398+19G>A | not provided [RCV002650122] | likely benign | 20 | 2660890 | 2660890 | Human | | name |
| 156055373 | CV2003297 | single nucleotide variant | NM_006899.5(IDH3B):c.118-18C>T | not provided [RCV002659502] | likely benign | 20 | 2663776 | 2663776 | Human | | name |
| 156144961 | CV2052692 | single nucleotide variant | NM_006899.5(IDH3B):c.398+17G>A | not provided [RCV002801096] | likely benign | 20 | 2660892 | 2660892 | Human | | name |
| 156139469 | CV2082236 | single nucleotide variant | NM_006899.5(IDH3B):c.117+13C>T | not provided [RCV002871930] | likely benign | 20 | 2663912 | 2663912 | Human | | name |
| 156100438 | CV2132593 | single nucleotide variant | NM_006899.5(IDH3B):c.1010+1G>A | not provided [RCV002979966] | likely pathogenic|uncertain significance | 20 | 2659698 | 2659698 | Human | | name |
| 156284017 | CV2134003 | single nucleotide variant | NM_006899.5(IDH3B):c.118-12C>G | not provided [RCV003009699] | likely benign | 20 | 2663770 | 2663770 | Human | | name |
| 156277353 | CV2137329 | single nucleotide variant | NM_006899.5(IDH3B):c.769-14A>C | not provided [RCV003009476] | likely benign | 20 | 2660190 | 2660190 | Human | | name |
| 155967378 | CV2156146 | deletion | NM_006899.5(IDH3B):c.216+10del | not provided [RCV003015769] | likely benign | 20 | 2663650 | 2663650 | Human | | name |
| 156325137 | CV2159742 | single nucleotide variant | NM_006899.5(IDH3B):c.666-19C>T | not provided [RCV003029438] | likely benign | 20 | 2660384 | 2660384 | Human | | name |
| 405130079 | CV2953513 | single nucleotide variant | NM_006899.5(IDH3B):c.217-13C>T | not provided [RCV003672266] | likely benign | 20 | 2663579 | 2663579 | Human | | name |
| 402508594 | CV2989063 | single nucleotide variant | NM_006899.5(IDH3B):c.665+12G>A | not provided [RCV003689249] | likely benign | 20 | 2660445 | 2660445 | Human | | name |
| 405002446 | CV3016156 | single nucleotide variant | NM_006899.5(IDH3B):c.399-13T>G | not provided [RCV003693307] | likely benign | 20 | 2660842 | 2660842 | Human | | name |
| 405166076 | CV3018760 | single nucleotide variant | NM_006899.5(IDH3B):c.769-13T>C | not provided [RCV003704258] | likely benign | 20 | 2660189 | 2660189 | Human | | name |
| 405182288 | CV3024454 | single nucleotide variant | NM_006899.5(IDH3B):c.1072-5T>C | not provided [RCV003705656] | likely benign | 20 | 2658842 | 2658842 | Human | | name |
| 402500563 | CV3035320 | single nucleotide variant | NM_006899.5(IDH3B):c.117+17C>T | not provided [RCV003714693] | likely benign | 20 | 2663908 | 2663908 | Human | | name |
| 405137994 | CV3125420 | single nucleotide variant | NM_006899.5(IDH3B):c.915+20C>T | not provided [RCV003816527] | likely benign | 20 | 2660010 | 2660010 | Human | | name |
| 405197132 | CV3168229 | single nucleotide variant | NM_006899.5(IDH3B):c.665+18G>A | not provided [RCV003860361] | likely benign | 20 | 2660439 | 2660439 | Human | | name |
| 11629223 | CV344878 | single nucleotide variant | NM_006899.5(IDH3B):c.916-10C>T | IDH3B-related disorder [RCV003932348]|Retinal dystrophy [RCV004816585]|Retinitis pigmentosa [RCV000318929]|not provided [RCV002057730] | likely benign|uncertain significance | 20 | 2659803 | 2659803 | Human | 5 | name , trait , alternate_id |
| 11630350 | CV350804 | single nucleotide variant | NM_006899.5(IDH3B):c.399-12G>T | Retinitis pigmentosa [RCV000347329]|not provided [RCV002523154] | likely benign|uncertain significance | 20 | 2660841 | 2660841 | Human | 2 | name |
| 597840545 | CV3825336 | single nucleotide variant | NM_006899.5(IDH3B):c.399-17G>C | not provided [RCV005172019] | likely benign | 20 | 2660846 | 2660846 | Human | | name |
| 597936041 | CV3845356 | single nucleotide variant | NM_006899.5(IDH3B):c.1072-6C>T | not provided [RCV005186669] | likely benign | 20 | 2658843 | 2658843 | Human | | name |
| 28888629 | CV887438 | single nucleotide variant | NM_006899.5(IDH3B):c.1010+8A>G | Retinitis pigmentosa [RCV001138441]|not provided [RCV002070627] | benign|uncertain significance | 20 | 2659691 | 2659691 | Human | 2 | name |
| 28900644 | CV887440 | single nucleotide variant | NM_006899.5(IDH3B):c.338-10G>T | Retinitis pigmentosa [RCV001142859]|not provided [RCV003769682] | likely benign|uncertain significance | 20 | 2660979 | 2660979 | Human | 2 | name |
| 28900649 | CV887441 | single nucleotide variant | NM_006899.5(IDH3B):c.337+11C>T | Retinitis pigmentosa [RCV001142860]|not provided [RCV001512786] | benign|uncertain significance | 20 | 2663435 | 2663435 | Human | 2 | name |
| 127310909 | CV1128332 | single nucleotide variant | NM_006899.5(IDH3B):c.1072-13G>A | not provided [RCV001456724] | likely benign | 20 | 2658850 | 2658850 | Human | | name |
| 150517423 | CV1226873 | single nucleotide variant | NM_006899.5(IDH3B):c.1072-87C>A | not provided [RCV001639968] | benign | 20 | 2658924 | 2658924 | Human | | name |
| 150455027 | CV1277114 | single nucleotide variant | NM_006899.5(IDH3B):c.1071+69C>T | not provided [RCV001708906] | benign | 20 | 2659456 | 2659456 | Human | | name |
| 152159237 | CV1522032 | single nucleotide variant | NM_006899.5(IDH3B):c.1072-14G>A | not provided [RCV002180630] | likely benign | 20 | 2658851 | 2658851 | Human | | name |
| 152175719 | CV1527114 | single nucleotide variant | NM_006899.5(IDH3B):c.1071+13G>A | not provided [RCV002163855] | likely benign | 20 | 2659512 | 2659512 | Human | | name |
| 152172826 | CV1652729 | single nucleotide variant | NM_006899.5(IDH3B):c.1010+20C>T | not provided [RCV002143906] | likely benign | 20 | 2659679 | 2659679 | Human | | name |
| 152103016 | CV1656859 | single nucleotide variant | NM_006899.5(IDH3B):c.1072-15C>T | not provided [RCV002195792] | likely benign | 20 | 2658852 | 2658852 | Human | | name |
| 156359475 | CV2184005 | single nucleotide variant | NM_006899.5(IDH3B):c.1072-19T>C | not provided [RCV003048918] | likely benign | 20 | 2658856 | 2658856 | Human | | name |
| 405077665 | CV3031779 | single nucleotide variant | NM_006899.5(IDH3B):c.1010+11G>A | not provided [RCV003698702] | likely benign | 20 | 2659688 | 2659688 | Human | | name |
| 150507643 | CV1257189 | single nucleotide variant | NM_006899.5(IDH3B):c.1071+138T>A | not provided [RCV001678488] | benign | 20 | 2659387 | 2659387 | Human | | name |
| 150440004 | CV1265049 | single nucleotide variant | NM_006899.5(IDH3B):c.1071+108G>T | not provided [RCV001679042] | benign | 20 | 2659417 | 2659417 | Human | | name |
| 150491950 | CV1267861 | single nucleotide variant | NM_006899.5(IDH3B):c.1072-323C>T | not provided [RCV001687886] | benign | 20 | 2659160 | 2659160 | Human | | name |
| 150474959 | CV1278964 | single nucleotide variant | NM_006899.5(IDH3B):c.1072-219C>T | not provided [RCV001713772] | benign | 20 | 2659056 | 2659056 | Human | | name |
| 127263627 | CV1085198 | single nucleotide variant | NM_006899.5(IDH3B):c.21C>T (p.Val7=) | not provided [RCV001403052] | likely benign | 20 | 2664168 | 2664168 | Human | | name |
| 155987933 | CV1979704 | single nucleotide variant | NM_006899.5(IDH3B):c.15C>T (p.Ser5=) | not provided [RCV002617891] | likely benign | 20 | 2664174 | 2664174 | Human | | name |
| 126915277 | CV1051646 | single nucleotide variant | NM_006899.5(IDH3B):c.5C>T (p.Ala2Val) | not provided [RCV001359893] | uncertain significance | 20 | 2664184 | 2664184 | Human | | name |
| 151819829 | CV1422384 | single nucleotide variant | NM_006899.5(IDH3B):c.8C>A (p.Ala3Glu) | not provided [RCV001900772] | uncertain significance | 20 | 2664181 | 2664181 | Human | | name |
| 152100207 | CV1664087 | single nucleotide variant | NM_006899.5(IDH3B):c.51C>A (p.Ala17=) | not provided [RCV002078888] | likely benign | 20 | 2663991 | 2663991 | Human | | name |
| 156285077 | CV1904355 | single nucleotide variant | NM_006899.5(IDH3B):c.42G>A (p.Leu14=) | not provided [RCV002598526] | likely benign | 20 | 2664000 | 2664000 | Human | | name |
| 156055886 | CV2007960 | single nucleotide variant | NM_006899.5(IDH3B):c.8C>T (p.Ala3Val) | not provided [RCV002705220] | uncertain significance | 20 | 2664181 | 2664181 | Human | | name |
| 156052298 | CV2027399 | single nucleotide variant | NM_006899.5(IDH3B):c.42G>C (p.Leu14=) | not provided [RCV002736551] | likely benign | 20 | 2664000 | 2664000 | Human | | name |
| 156325639 | CV2054099 | single nucleotide variant | NM_006899.5(IDH3B):c.45C>G (p.Val15=) | not provided [RCV002810376] | likely benign | 20 | 2663997 | 2663997 | Human | | name |
| 156032389 | CV2156510 | single nucleotide variant | NM_006899.5(IDH3B):c.33C>A (p.Thr11=) | not provided [RCV003018728] | likely benign | 20 | 2664156 | 2664156 | Human | | name |
| 405216308 | CV3124617 | single nucleotide variant | NM_006899.5(IDH3B):c.84C>T (p.Thr28=) | not provided [RCV003823979] | likely benign | 20 | 2663958 | 2663958 | Human | | name |
| 402516857 | CV3135782 | single nucleotide variant | NM_006899.5(IDH3B):c.93G>A (p.Ala31=) | not provided [RCV003824408] | likely benign | 20 | 2663949 | 2663949 | Human | | name |
| 11652311 | CV335117 | single nucleotide variant | NM_006899.5(IDH3B):c.66A>G (p.Ala22=) | Retinitis pigmentosa [RCV000304066]|not provided [RCV005090532] | likely benign|uncertain significance | 20 | 2663976 | 2663976 | Human | 2 | name |
| 26896004 | CV848265 | single nucleotide variant | NM_006899.5(IDH3B):c.1A>G (p.Met1Val) | Retinitis pigmentosa 46 [RCV005029650]|not provided [RCV001064375] | likely pathogenic|uncertain significance | 20 | 2664188 | 2664188 | Human | 1 | name , alternate_id |
| 126733204 | CV1014055 | single nucleotide variant | NM_006899.5(IDH3B):c.17G>T (p.Gly6Val) | not provided [RCV001313350] | uncertain significance | 20 | 2664172 | 2664172 | Human | | name |
| 126763379 | CV1034633 | single nucleotide variant | NM_006899.5(IDH3B):c.117G>A (p.Gln39=) | not provided [RCV001341256] | uncertain significance | 20 | 2663925 | 2663925 | Human | | name |
| 127233003 | CV1085197 | single nucleotide variant | NM_006899.5(IDH3B):c.162T>G (p.Leu54=) | not provided [RCV001413710] | likely benign | 20 | 2663714 | 2663714 | Human | | name |
| 127272390 | CV1106919 | single nucleotide variant | NM_006899.5(IDH3B):c.187C>T (p.Leu63=) | not provided [RCV001442181] | likely benign | 20 | 2663689 | 2663689 | Human | | name |
| 127304217 | CV1128336 | single nucleotide variant | NM_006899.5(IDH3B):c.201C>T (p.Val67=) | not provided [RCV001454920] | likely benign | 20 | 2663675 | 2663675 | Human | | name |
| 151856015 | CV1373023 | single nucleotide variant | NM_006899.5(IDH3B):c.10T>G (p.Leu4Val) | not provided [RCV001996547] | uncertain significance | 20 | 2664179 | 2664179 | Human | | name |
| 152032615 | CV1537804 | single nucleotide variant | NM_006899.5(IDH3B):c.289C>T (p.Leu97=) | not provided [RCV002186930] | likely benign | 20 | 2663494 | 2663494 | Human | | name |
| 156351112 | CV1978398 | single nucleotide variant | NM_006899.5(IDH3B):c.222C>T (p.Ala74=) | not provided [RCV002601832] | likely benign | 20 | 2663561 | 2663561 | Human | | name |
| 156015647 | CV2010176 | single nucleotide variant | NM_006899.5(IDH3B):c.264G>A (p.Val88=) | not provided [RCV002735125] | likely benign | 20 | 2663519 | 2663519 | Human | | name |
| 156190177 | CV2144963 | single nucleotide variant | NM_006899.5(IDH3B):c.14G>A (p.Ser5Asn) | not provided [RCV003005976]|not specified [RCV004068536] | uncertain significance | 20 | 2664175 | 2664175 | Human | | name |
| 156302895 | CV2156658 | single nucleotide variant | NM_006899.5(IDH3B):c.15C>A (p.Ser5Arg) | not provided [RCV003010470] | uncertain significance | 20 | 2664174 | 2664174 | Human | | name |
| 156317338 | CV2161528 | single nucleotide variant | NM_006899.5(IDH3B):c.15C>G (p.Ser5Arg) | not provided [RCV003046383] | uncertain significance | 20 | 2664174 | 2664174 | Human | | name |
| 405216748 | CV2872582 | single nucleotide variant | NM_006899.5(IDH3B):c.162T>C (p.Leu54=) | not provided [RCV003553321] | likely benign | 20 | 2663714 | 2663714 | Human | | name |
| 402486906 | CV2928444 | single nucleotide variant | NM_006899.5(IDH3B):c.153G>A (p.Val51=) | not provided [RCV003572617] | likely benign | 20 | 2663723 | 2663723 | Human | | name |
| 405136847 | CV2963172 | single nucleotide variant | NM_006899.5(IDH3B):c.195C>T (p.His65=) | not provided [RCV003668861] | likely benign | 20 | 2663681 | 2663681 | Human | | name |
| 11624222 | CV335098 | single nucleotide variant | NM_006899.5(IDH3B):c.252C>T (p.His84=) | Retinitis pigmentosa [RCV000383200]|not provided [RCV001523369]|not specified [RCV001700070] | benign|uncertain significance | 20 | 2663531 | 2663531 | Human | 2 | name |
| 14698349 | CV623907 | deletion | NM_006899.5(IDH3B):c.59del (p.Pro20fs) | not provided [RCV000787616] | likely pathogenic | 20 | 2663983 | 2663983 | Human | | name |
| 15151107 | CV742308 | single nucleotide variant | NM_006899.5(IDH3B):c.165G>A (p.Pro55=) | not provided [RCV000901294] | likely benign | 20 | 2663711 | 2663711 | Human | | name |
| 15196805 | CV773025 | single nucleotide variant | NM_006899.5(IDH3B):c.261G>A (p.Glu87=) | not provided [RCV000934323] | likely benign | 20 | 2663522 | 2663522 | Human | | name |
| 28887655 | CV885954 | single nucleotide variant | NM_006899.5(IDH3B):c.16G>A (p.Gly6Arg) | Retinitis pigmentosa [RCV001138119] | uncertain significance | 20 | 2664173 | 2664173 | Human | 2 | name |
| 127272442 | CV1085196 | single nucleotide variant | NM_006899.5(IDH3B):c.423C>T (p.Asn141=) | not provided [RCV001405717] | likely benign | 20 | 2660805 | 2660805 | Human | | name |
| 127248033 | CV1106915 | single nucleotide variant | NM_006899.5(IDH3B):c.984G>A (p.Ser328=) | not provided [RCV001435730] | likely benign | 20 | 2659725 | 2659725 | Human | | name |
| 127270812 | CV1106916 | single nucleotide variant | NM_006899.5(IDH3B):c.705A>G (p.Glu235=) | not provided [RCV001441570] | likely benign | 20 | 2660326 | 2660326 | Human | | name |
| 127264637 | CV1106917 | single nucleotide variant | NM_006899.5(IDH3B):c.489T>C (p.Ile163=) | not provided [RCV001428898] | likely benign | 20 | 2660739 | 2660739 | Human | | name |
| 127271516 | CV1106918 | single nucleotide variant | NM_006899.5(IDH3B):c.348T>C (p.His116=) | not provided [RCV001430993] | likely benign | 20 | 2660959 | 2660959 | Human | | name |
| 127290885 | CV1128335 | single nucleotide variant | NM_006899.5(IDH3B):c.579G>A (p.Lys193=) | not provided [RCV001451362] | likely benign | 20 | 2660543 | 2660543 | Human | | name |
| 127336507 | CV1149270 | single nucleotide variant | NM_006899.5(IDH3B):c.315G>A (p.Lys105=) | not provided [RCV001492184] | likely benign | 20 | 2663468 | 2663468 | Human | | name |
| 151802691 | CV1364598 | single nucleotide variant | NM_006899.5(IDH3B):c.82A>G (p.Thr28Ala) | not provided [RCV001991098] | uncertain significance | 20 | 2663960 | 2663960 | Human | | name |
| 151781289 | CV1458286 | single nucleotide variant | NM_006899.5(IDH3B):c.513C>T (p.Tyr171=) | not provided [RCV001951101] | likely benign | 20 | 2660715 | 2660715 | Human | | name |
| 151829612 | CV1510382 | single nucleotide variant | NM_006899.5(IDH3B):c.91G>A (p.Ala31Thr) | not provided [RCV001920364] | uncertain significance | 20 | 2663951 | 2663951 | Human | | name |
| 152143280 | CV1526818 | single nucleotide variant | NM_006899.5(IDH3B):c.582T>C (p.Ser194=) | not provided [RCV002084450] | likely benign | 20 | 2660540 | 2660540 | Human | | name |
| 152147549 | CV1528603 | single nucleotide variant | NM_006899.5(IDH3B):c.600C>T (p.Phe200=) | not provided [RCV002101714] | likely benign | 20 | 2660522 | 2660522 | Human | | name |
| 152139177 | CV1533373 | single nucleotide variant | NM_006899.5(IDH3B):c.468C>T (p.Asn156=) | not provided [RCV002083923] | likely benign | 20 | 2660760 | 2660760 | Human | | name |
| 152174226 | CV1536179 | single nucleotide variant | NM_006899.5(IDH3B):c.354G>A (p.Pro118=) | not provided [RCV002144367] | likely benign | 20 | 2660953 | 2660953 | Human | | name |
| 152096310 | CV1631308 | single nucleotide variant | NM_006899.5(IDH3B):c.972C>T (p.Ala324=) | not provided [RCV002172497] | likely benign | 20 | 2659737 | 2659737 | Human | | name |
| 152172279 | CV1650656 | single nucleotide variant | NM_006899.5(IDH3B):c.921C>T (p.Ala307=) | not provided [RCV002162399] | likely benign | 20 | 2659788 | 2659788 | Human | | name |
| 155736798 | CV1774502 | single nucleotide variant | NM_006899.5(IDH3B):c.88G>A (p.Ala30Thr) | not provided [RCV002301958] | uncertain significance | 20 | 2663954 | 2663954 | Human | | name |
| 156446598 | CV1947942 | single nucleotide variant | NM_006899.5(IDH3B):c.92C>T (p.Ala31Val) | not provided [RCV003118109] | uncertain significance | 20 | 2663950 | 2663950 | Human | | name |
| 156092209 | CV2054536 | single nucleotide variant | NM_006899.5(IDH3B):c.675G>T (p.Gly225=) | not provided [RCV002824231] | likely benign | 20 | 2660356 | 2660356 | Human | | name |
| 155925245 | CV2073886 | single nucleotide variant | NM_006899.5(IDH3B):c.990C>G (p.Ser330=) | not provided [RCV002838498] | likely benign | 20 | 2659719 | 2659719 | Human | | name |
| 329358892 | CV2450738 | single nucleotide variant | NM_006899.5(IDH3B):c.97C>T (p.His33Tyr) | not specified [RCV004267675] | uncertain significance | 20 | 2663945 | 2663945 | Human | | name |
| 11637073 | CV273013 | single nucleotide variant | NM_006899.5(IDH3B):c.981G>A (p.Leu327=) | not provided [RCV000279599] | conflicting interpretations of pathogenicity|uncertain significance | 20 | 2659728 | 2659728 | Human | | name |
| 405167004 | CV2900889 | single nucleotide variant | NM_006899.5(IDH3B):c.798G>A (p.Val266=) | not provided [RCV003562822] | likely benign | 20 | 2660147 | 2660147 | Human | | name |
| 405218806 | CV2968806 | single nucleotide variant | NM_006899.5(IDH3B):c.64G>T (p.Ala22Ser) | not provided [RCV003680379] | uncertain significance | 20 | 2663978 | 2663978 | Human | | name |
| 405152856 | CV3123412 | single nucleotide variant | NM_006899.5(IDH3B):c.969G>A (p.Thr323=) | not provided [RCV003817645] | likely benign | 20 | 2659740 | 2659740 | Human | | name |
| 405263674 | CV3188841 | single nucleotide variant | NM_006899.5(IDH3B):c.834C>T (p.Asp278=) | Retinal dystrophy [RCV003890400] | uncertain significance | 20 | 2660111 | 2660111 | Human | 2 | name |
| 11612524 | CV335097 | single nucleotide variant | NM_006899.5(IDH3B):c.684G>A (p.Leu228=) | Retinitis pigmentosa [RCV000260091]|not provided [RCV001423091] | likely benign|uncertain significance | 20 | 2660347 | 2660347 | Human | 2 | name |
| 596941649 | CV3408277 | indel | NM_006899.5(IDH3B):c.1000_1010+2delinsG | Retinal dystrophy [RCV004815948] | uncertain significance | 20 | 2659697 | 2659709 | Human | | name |
| 596941687 | CV3408290 | single nucleotide variant | NM_006899.5(IDH3B):c.783T>G (p.Pro261=) | Retinal dystrophy [RCV004815961] | uncertain significance | 20 | 2660162 | 2660162 | Human | 2 | name |
| 407466841 | CV3444430 | single nucleotide variant | NM_006899.5(IDH3B):c.37G>T (p.Ala13Ser) | not specified [RCV004635505] | uncertain significance | 20 | 2664005 | 2664005 | Human | | name |
| 11631751 | CV344889 | single nucleotide variant | NM_006899.5(IDH3B):c.522G>T (p.Leu174=) | Retinitis pigmentosa [RCV000386679]|not provided [RCV000591163] | conflicting interpretations of pathogenicity|uncertain significance | 20 | 2660706 | 2660706 | Human | 2 | name |
| 11627978 | CV344892 | single nucleotide variant | NM_006899.5(IDH3B):c.426A>G (p.Val142=) | Retinitis pigmentosa [RCV000292272]|not provided [RCV005090531] | likely benign|uncertain significance | 20 | 2660802 | 2660802 | Human | 2 | name |
| 597846118 | CV3736418 | single nucleotide variant | NM_006899.5(IDH3B):c.501A>G (p.Thr167=) | not provided [RCV005059996] | likely benign | 20 | 2660727 | 2660727 | Human | | name |
| 597941488 | CV3757408 | single nucleotide variant | NM_006899.5(IDH3B):c.597G>A (p.Lys199=) | not provided [RCV005077594] | likely benign | 20 | 2660525 | 2660525 | Human | | name |
| 597932713 | CV3780798 | single nucleotide variant | NM_006899.5(IDH3B):c.843T>G (p.Ala281=) | not provided [RCV005116910] | likely benign | 20 | 2660102 | 2660102 | Human | | name |
| 597968104 | CV3790642 | single nucleotide variant | NM_006899.5(IDH3B):c.651C>T (p.His217=) | not provided [RCV005140873] | likely benign | 20 | 2660471 | 2660471 | Human | | name |
| 597959514 | CV3815114 | single nucleotide variant | NM_006899.5(IDH3B):c.924G>A (p.Arg308=) | not provided [RCV005163241] | likely benign | 20 | 2659785 | 2659785 | Human | | name |
| 597876060 | CV3829777 | single nucleotide variant | NM_006899.5(IDH3B):c.342G>A (p.Lys114=) | not provided [RCV005177485] | likely benign | 20 | 2660965 | 2660965 | Human | | name |
| 13836275 | CV587546 | single nucleotide variant | NM_006899.5(IDH3B):c.34C>T (p.Arg12Ter) | Retinitis pigmentosa 46 [RCV002499364]|not provided [RCV000732343] | conflicting interpretations of pathogenicity|uncertain significance | 20 | 2664155 | 2664155 | Human | 1 | name , alternate_id |
| 14393691 | CV610154 | single nucleotide variant | NM_006899.5(IDH3B):c.74G>A (p.Gly25Asp) | IDH3B-related disorder [RCV003908065]|not provided [RCV000756265] | benign|likely benign | 20 | 2663968 | 2663968 | Human | 1 | name , trait , alternate_id |
| 15202694 | CV705417 | single nucleotide variant | NM_006899.5(IDH3B):c.636G>A (p.Lys212=) | Retinitis pigmentosa [RCV001137365]|not provided [RCV000957999] | benign | 20 | 2660486 | 2660486 | Human | 2 | name |
| 28895803 | CV885950 | single nucleotide variant | NM_006899.5(IDH3B):c.900C>T (p.Tyr300=) | Retinitis pigmentosa [RCV001141015]|not provided [RCV001449437] | likely benign|uncertain significance | 20 | 2660045 | 2660045 | Human | 2 | name |
| 28887660 | CV885953 | single nucleotide variant | NM_006899.5(IDH3B):c.73G>A (p.Gly25Ser) | Retinitis pigmentosa [RCV001138118]|not provided [RCV001244576] | uncertain significance | 20 | 2663969 | 2663969 | Human | 2 | name |
| 38483684 | CV929150 | single nucleotide variant | NM_006899.5(IDH3B):c.41T>C (p.Leu14Pro) | not provided [RCV001219061]|not specified [RCV004032348] | uncertain significance | 20 | 2664001 | 2664001 | Human | | name |
| 126752909 | CV1014052 | single nucleotide variant | NM_006899.5(IDH3B):c.273G>A (p.Met91Ile) | not provided [RCV001316394] | uncertain significance | 20 | 2663510 | 2663510 | Human | | name |
| 126754828 | CV1014053 | single nucleotide variant | NM_006899.5(IDH3B):c.127G>T (p.Val43Leu) | Retinal dystrophy [RCV004815387]|not provided [RCV001327599]|not specified [RCV004035246] | uncertain significance | 20 | 2663749 | 2663749 | Human | 2 | name |
| 126763763 | CV1014054 | single nucleotide variant | NM_006899.5(IDH3B):c.124G>A (p.Asp42Asn) | not provided [RCV001319375] | uncertain significance | 20 | 2663752 | 2663752 | Human | | name |
| 127247948 | CV1106912 | single nucleotide variant | NM_006899.5(IDH3B):c.1158G>A (p.Ter386=) | not provided [RCV001435716] | likely benign | 20 | 2658751 | 2658751 | Human | | name |
| 127269495 | CV1106913 | single nucleotide variant | NM_006899.5(IDH3B):c.1080T>G (p.Thr360=) | not provided [RCV001441088] | likely benign | 20 | 2658829 | 2658829 | Human | | name |
| 127278455 | CV1106914 | single nucleotide variant | NM_006899.5(IDH3B):c.1035C>T (p.Ile345=) | not provided [RCV001445084] | likely benign | 20 | 2659561 | 2659561 | Human | | name |
| 127290715 | CV1128331 | single nucleotide variant | NM_006899.5(IDH3B):c.1119C>T (p.Ile373=) | not provided [RCV001458513] | likely benign | 20 | 2658790 | 2658790 | Human | | name |
| 127301995 | CV1128333 | single nucleotide variant | NM_006899.5(IDH3B):c.1023C>T (p.His341=) | not provided [RCV001461521] | likely benign | 20 | 2659573 | 2659573 | Human | | name |
| 127322086 | CV1149269 | single nucleotide variant | NM_006899.5(IDH3B):c.1146T>C (p.Thr382=) | not provided [RCV001504973] | likely benign | 20 | 2658763 | 2658763 | Human | | name |
| 127291706 | CV1158770 | single nucleotide variant | NM_006899.5(IDH3B):c.1143G>A (p.Gln381=) | not provided [RCV001510517] | benign | 20 | 2658766 | 2658766 | Human | | name |
| 151868194 | CV1338447 | single nucleotide variant | NM_006899.5(IDH3B):c.159G>A (p.Met53Ile) | not provided [RCV001884801] | uncertain significance | 20 | 2663717 | 2663717 | Human | | name |
| 151787064 | CV1495517 | single nucleotide variant | NM_006899.5(IDH3B):c.184G>T (p.Glu62Ter) | not provided [RCV002026829] | pathogenic|uncertain significance | 20 | 2663692 | 2663692 | Human | | name |
| 152048007 | CV1519847 | single nucleotide variant | NM_006899.5(IDH3B):c.1155C>T (p.Ser385=) | not provided [RCV002145309] | likely benign | 20 | 2658754 | 2658754 | Human | | name |
| 152064803 | CV1576009 | single nucleotide variant | NM_006899.5(IDH3B):c.1026C>T (p.Ser342=) | not provided [RCV002209175] | likely benign | 20 | 2659570 | 2659570 | Human | | name |
| 152122939 | CV1603012 | single nucleotide variant | NM_006899.5(IDH3B):c.1110C>T (p.Thr370=) | not provided [RCV002198302] | likely benign | 20 | 2658799 | 2658799 | Human | | name |
| 152130625 | CV1636780 | single nucleotide variant | NM_006899.5(IDH3B):c.1002G>C (p.Arg334=) | not provided [RCV002199268] | likely benign | 20 | 2659707 | 2659707 | Human | | name |
| 152126400 | CV1641926 | single nucleotide variant | NM_006899.5(IDH3B):c.1131C>T (p.Ile377=) | not provided [RCV002176231] | likely benign | 20 | 2658778 | 2658778 | Human | | name |
| 152173174 | CV1652947 | single nucleotide variant | NM_006899.5(IDH3B):c.1044G>A (p.Ala348=) | not provided [RCV002144024] | likely benign | 20 | 2659552 | 2659552 | Human | | name |
| 155691361 | CV1772574 | single nucleotide variant | NM_006899.5(IDH3B):c.263T>C (p.Val88Ala) | not provided [RCV002294921] | uncertain significance | 20 | 2663520 | 2663520 | Human | | name |
| 155723160 | CV1773563 | single nucleotide variant | NM_006899.5(IDH3B):c.121G>A (p.Glu41Lys) | not provided [RCV002301368] | uncertain significance | 20 | 2663755 | 2663755 | Human | | name |
| 156357927 | CV2020224 | single nucleotide variant | NM_006899.5(IDH3B):c.148C>A (p.Pro50Thr) | not provided [RCV002720663] | uncertain significance | 20 | 2663728 | 2663728 | Human | | name |
| 156319901 | CV2025265 | single nucleotide variant | NM_006899.5(IDH3B):c.1095C>G (p.Gly365=) | not provided [RCV002717022] | uncertain significance | 20 | 2658814 | 2658814 | Human | | name |
| 8558744 | CV20544 | deletion | NM_006899.5(IDH3B):c.589del (p.Ile197fs) | Retinitis pigmentosa 46 [RCV000005840] | pathogenic | 20 | 2660533 | 2660533 | Human | 1 | name , alternate_id |
| 156277527 | CV2064083 | single nucleotide variant | NM_006899.5(IDH3B):c.136G>A (p.Glu46Lys) | not provided [RCV002856267] | uncertain significance | 20 | 2663740 | 2663740 | Human | | name |
| 155939623 | CV2071502 | single nucleotide variant | NM_006899.5(IDH3B):c.208G>C (p.Val70Leu) | not provided [RCV002861682] | uncertain significance | 20 | 2663668 | 2663668 | Human | | name |
| 156298415 | CV2180554 | single nucleotide variant | NM_006899.5(IDH3B):c.116A>G (p.Gln39Arg) | not provided [RCV003027975]|not specified [RCV004632155] | uncertain significance | 20 | 2663926 | 2663926 | Human | | name |
| 156055100 | CV2243153 | single nucleotide variant | NM_006899.5(IDH3B):c.139G>A (p.Gly47Ser) | not specified [RCV004110057] | uncertain significance | 20 | 2663737 | 2663737 | Human | | name |
| 405026257 | CV3129674 | single nucleotide variant | NM_006899.5(IDH3B):c.1092C>T (p.Gly364=) | not provided [RCV003830272] | likely benign | 20 | 2658817 | 2658817 | Human | | name |
| 11649665 | CV335101 | single nucleotide variant | NM_006899.5(IDH3B):c.161T>C (p.Leu54Pro) | Retinitis pigmentosa [RCV000288605]|not provided [RCV001338794] | uncertain significance | 20 | 2663715 | 2663715 | Human | 2 | name |
| 596939809 | CV3408072 | deletion | NM_006899.5(IDH3B):c.430del (p.His144fs) | Retinal dystrophy [RCV004814532] | uncertain significance | 20 | 2660798 | 2660798 | Human | 2 | name |
| 11626623 | CV344870 | single nucleotide variant | NM_006899.5(IDH3B):c.1047G>A (p.Val349=) | Retinitis pigmentosa [RCV000266890]|not provided [RCV000968401] | benign|likely benign|uncertain significance | 20 | 2659549 | 2659549 | Human | 2 | name |
| 11652173 | CV349787 | single nucleotide variant | NM_006899.5(IDH3B):c.1014T>C (p.Leu338=) | Retinitis pigmentosa [RCV000303339]|not provided [RCV001462884] | likely benign|uncertain significance | 20 | 2659582 | 2659582 | Human | 2 | name |
| 597690950 | CV3720674 | single nucleotide variant | NM_006899.5(IDH3B):c.107C>A (p.Ser36Ter) | Retinitis pigmentosa 46 [RCV005032505] | likely pathogenic | 20 | 2663935 | 2663935 | Human | 1 | name , alternate_id |
| 597908448 | CV3853712 | single nucleotide variant | NM_006899.5(IDH3B):c.1107A>T (p.Thr369=) | not provided [RCV005203195] | likely benign | 20 | 2658802 | 2658802 | Human | | name |
| 13516879 | CV489400 | indel | NM_006899.5(IDH3B):c.665+8_665+9delinsTT | not provided [RCV000596070] | uncertain significance | 20 | 2660448 | 2660449 | Human | | name |
| 28900655 | CV885952 | single nucleotide variant | NM_006899.5(IDH3B):c.160C>G (p.Leu54Val) | Retinitis pigmentosa [RCV001142861] | uncertain significance | 20 | 2663716 | 2663716 | Human | 2 | name |
| 38456143 | CV951024 | single nucleotide variant | NM_006899.5(IDH3B):c.158T>C (p.Met53Thr) | not provided [RCV001228256] | uncertain significance | 20 | 2663718 | 2663718 | Human | | name |
| 126749094 | CV998930 | single nucleotide variant | NM_006899.5(IDH3B):c.196G>A (p.Ala66Thr) | not provided [RCV001297068]|not specified [RCV004036055] | uncertain significance | 20 | 2663680 | 2663680 | Human | | name |
| 126734789 | CV1014050 | single nucleotide variant | NM_006899.5(IDH3B):c.470A>G (p.Asn157Ser) | not provided [RCV001313622] | uncertain significance | 20 | 2660758 | 2660758 | Human | | name |
| 126764636 | CV1014051 | single nucleotide variant | NM_006899.5(IDH3B):c.391C>T (p.Arg131Trp) | not provided [RCV001319725] | uncertain significance | 20 | 2660916 | 2660916 | Human | | name |
| 126747014 | CV1034629 | single nucleotide variant | NM_006899.5(IDH3B):c.590T>C (p.Ile197Thr) | not provided [RCV001337412] | uncertain significance | 20 | 2660532 | 2660532 | Human | | name |
| 126764651 | CV1034630 | single nucleotide variant | NM_006899.5(IDH3B):c.542G>A (p.Gly181Asp) | not provided [RCV001341735] | uncertain significance | 20 | 2660580 | 2660580 | Human | | name |
| 126769660 | CV1034631 | single nucleotide variant | NM_006899.5(IDH3B):c.517T>G (p.Ser173Ala) | not provided [RCV001344043] | uncertain significance | 20 | 2660711 | 2660711 | Human | | name |
| 126749640 | CV1034632 | single nucleotide variant | NM_006899.5(IDH3B):c.400C>G (p.Arg134Gly) | Retinal dystrophy [RCV004815394]|not provided [RCV001337889]|not specified [RCV004035848] | uncertain significance | 20 | 2660828 | 2660828 | Human | 2 | name |
| 126911311 | CV1051644 | single nucleotide variant | NM_006899.5(IDH3B):c.896A>C (p.Glu299Ala) | not provided [RCV001369152] | uncertain significance | 20 | 2660049 | 2660049 | Human | | name |
| 150486108 | CV1250364 | microsatellite | NM_006899.5(IDH3B):c.1072-172_1072-170del | not provided [RCV001673977] | benign | 20 | 2659007 | 2659009 | Human | | name |
| 151801548 | CV1338067 | single nucleotide variant | NM_006899.5(IDH3B):c.421A>G (p.Asn141Asp) | not provided [RCV001932360]|not specified [RCV004927730] | uncertain significance | 20 | 2660807 | 2660807 | Human | | name |
| 151797830 | CV1346661 | single nucleotide variant | NM_006899.5(IDH3B):c.901G>A (p.Ala301Thr) | not provided [RCV001990668] | uncertain significance | 20 | 2660044 | 2660044 | Human | | name |
| 151822495 | CV1355319 | single nucleotide variant | NM_006899.5(IDH3B):c.970G>A (p.Ala324Thr) | not provided [RCV001934280]|not specified [RCV005350784] | uncertain significance | 20 | 2659739 | 2659739 | Human | | name |
| 151750482 | CV1360820 | single nucleotide variant | NM_006899.5(IDH3B):c.461G>C (p.Arg154Pro) | not provided [RCV001894280] | uncertain significance | 20 | 2660767 | 2660767 | Human | | name |
| 151877239 | CV1368803 | single nucleotide variant | NM_006899.5(IDH3B):c.415T>C (p.Phe139Leu) | not provided [RCV001999084] | uncertain significance | 20 | 2660813 | 2660813 | Human | | name |
| 151882303 | CV1371216 | single nucleotide variant | NM_006899.5(IDH3B):c.629G>T (p.Arg210Leu) | not provided [RCV001886699] | uncertain significance | 20 | 2660493 | 2660493 | Human | | name |
| 151846512 | CV1386584 | single nucleotide variant | NM_006899.5(IDH3B):c.632G>A (p.Gly211Asp) | not provided [RCV001882014] | uncertain significance | 20 | 2660490 | 2660490 | Human | | name |
| 151850102 | CV1389723 | single nucleotide variant | NM_006899.5(IDH3B):c.527A>G (p.His176Arg) | not provided [RCV001937231] | uncertain significance | 20 | 2660701 | 2660701 | Human | | name |
| 151882091 | CV1395992 | single nucleotide variant | NM_006899.5(IDH3B):c.788A>G (p.Gln263Arg) | not provided [RCV002037061] | uncertain significance | 20 | 2660157 | 2660157 | Human | | name |
| 151836345 | CV1398065 | single nucleotide variant | NM_006899.5(IDH3B):c.923G>A (p.Arg308Gln) | not provided [RCV001977183]|not specified [RCV004042212] | uncertain significance | 20 | 2659786 | 2659786 | Human | | name |
| 151731031 | CV1421262 | single nucleotide variant | NM_006899.5(IDH3B):c.992A>G (p.Asn331Ser) | not provided [RCV001892253]|not specified [RCV004041191] | uncertain significance | 20 | 2659717 | 2659717 | Human | | name |
| 151846813 | CV1423972 | single nucleotide variant | NM_006899.5(IDH3B):c.586C>G (p.Arg196Gly) | not provided [RCV001995444] | uncertain significance | 20 | 2660536 | 2660536 | Human | | name |
| 151849128 | CV1439967 | single nucleotide variant | NM_006899.5(IDH3B):c.875C>T (p.Pro292Leu) | not provided [RCV002016334] | uncertain significance | 20 | 2660070 | 2660070 | Human | | name |
| 151840036 | CV1462904 | single nucleotide variant | NM_006899.5(IDH3B):c.529G>A (p.Glu177Lys) | not provided [RCV002031709] | uncertain significance | 20 | 2660699 | 2660699 | Human | | name |
| 151779024 | CV1468899 | single nucleotide variant | NM_006899.5(IDH3B):c.490C>T (p.Arg164Ter) | not provided [RCV002045979] | pathogenic|uncertain significance | 20 | 2660738 | 2660738 | Human | | name |
| 151876833 | CV1479391 | single nucleotide variant | NM_006899.5(IDH3B):c.477C>G (p.Asp159Glu) | not provided [RCV001885963] | uncertain significance | 20 | 2660751 | 2660751 | Human | | name |
| 151827607 | CV1479826 | single nucleotide variant | NM_006899.5(IDH3B):c.460C>T (p.Arg154Trp) | Retinal dystrophy [RCV003888898]|not provided [RCV001901485] | uncertain significance | 20 | 2660768 | 2660768 | Human | 2 | name |
| 151837901 | CV1492426 | single nucleotide variant | NM_006899.5(IDH3B):c.571C>G (p.Arg191Gly) | not provided [RCV002051415] | uncertain significance | 20 | 2660551 | 2660551 | Human | | name |
| 151716497 | CV1513076 | single nucleotide variant | NM_006899.5(IDH3B):c.973A>C (p.Met325Leu) | not provided [RCV001890413] | uncertain significance | 20 | 2659736 | 2659736 | Human | | name |
| 155669634 | CV1770933 | single nucleotide variant | NM_006899.5(IDH3B):c.487A>G (p.Ile163Val) | not provided [RCV002297266] | uncertain significance | 20 | 2660741 | 2660741 | Human | | name |
| 155713067 | CV1775930 | single nucleotide variant | NM_006899.5(IDH3B):c.859G>A (p.Gly287Arg) | not provided [RCV002296279] | uncertain significance | 20 | 2660086 | 2660086 | Human | | name |
| 155682062 | CV1776757 | single nucleotide variant | NM_006899.5(IDH3B):c.674G>A (p.Gly225Glu) | not provided [RCV002298293] | uncertain significance | 20 | 2660357 | 2660357 | Human | | name |
| 156343632 | CV1974271 | single nucleotide variant | NM_006899.5(IDH3B):c.737A>G (p.Glu246Gly) | not provided [RCV002601414] | uncertain significance | 20 | 2660294 | 2660294 | Human | | name |
| 156343621 | CV1981694 | single nucleotide variant | NM_006899.5(IDH3B):c.922C>T (p.Arg308Trp) | not provided [RCV002631558]|not specified [RCV004066587] | uncertain significance | 20 | 2659787 | 2659787 | Human | | name |
| 156415234 | CV1990889 | single nucleotide variant | NM_006899.5(IDH3B):c.601G>A (p.Ala201Thr) | not provided [RCV002609573] | uncertain significance | 20 | 2660521 | 2660521 | Human | | name |
| 156404522 | CV1993368 | single nucleotide variant | NM_006899.5(IDH3B):c.968C>T (p.Thr323Met) | not provided [RCV002658072]|not specified [RCV004066661] | uncertain significance | 20 | 2659741 | 2659741 | Human | | name |
| 156271893 | CV2004187 | single nucleotide variant | NM_006899.5(IDH3B):c.366G>C (p.Lys122Asn) | not provided [RCV002646560] | uncertain significance | 20 | 2660941 | 2660941 | Human | | name |
| 156080330 | CV2011974 | single nucleotide variant | NM_006899.5(IDH3B):c.856G>C (p.Gly286Arg) | not provided [RCV002705969] | uncertain significance | 20 | 2660089 | 2660089 | Human | | name |
| 156398952 | CV2013127 | single nucleotide variant | NM_006899.5(IDH3B):c.670C>A (p.Leu224Ile) | not provided [RCV002725834] | uncertain significance | 20 | 2660361 | 2660361 | Human | | name |
| 156222480 | CV2037760 | single nucleotide variant | NM_006899.5(IDH3B):c.887A>G (p.Tyr296Cys) | not provided [RCV002790680] | uncertain significance | 20 | 2660058 | 2660058 | Human | | name |
| 8558745 | CV20545 | single nucleotide variant | NM_006899.5(IDH3B):c.395T>C (p.Leu132Pro) | Retinitis pigmentosa 46 [RCV000005841]|not provided [RCV003555931] | pathogenic|uncertain significance | 20 | 2660912 | 2660912 | Human | 1 | name , alternate_id |
| 156164735 | CV2056558 | single nucleotide variant | NM_006899.5(IDH3B):c.399G>T (p.Arg133Ser) | not provided [RCV002801760] | uncertain significance | 20 | 2660829 | 2660829 | Human | | name |
| 155919278 | CV2148757 | single nucleotide variant | NM_006899.5(IDH3B):c.677A>G (p.Asp226Gly) | not provided [RCV002991820] | uncertain significance | 20 | 2660354 | 2660354 | Human | | name |
| 156358846 | CV2187370 | single nucleotide variant | NM_006899.5(IDH3B):c.691C>T (p.Gln231Ter) | not provided [RCV003048875] | pathogenic|uncertain significance | 20 | 2660340 | 2660340 | Human | | name |
| 11641786 | CV271937 | single nucleotide variant | NM_006899.5(IDH3B):c.818A>G (p.Tyr273Cys) | not provided [RCV000362984] | uncertain significance | 20 | 2660127 | 2660127 | Human | | name |
| 405091194 | CV3025885 | single nucleotide variant | NM_006899.5(IDH3B):c.794A>T (p.Asp265Val) | not provided [RCV003699746] | uncertain significance | 20 | 2660151 | 2660151 | Human | | name |
| 404978830 | CV3175989 | single nucleotide variant | NM_006899.5(IDH3B):c.628C>T (p.Arg210Trp) | not provided [RCV003880089] | uncertain significance | 20 | 2660494 | 2660494 | Human | | name |
| 405263671 | CV3188839 | single nucleotide variant | NM_006899.5(IDH3B):c.880G>A (p.Glu294Lys) | Retinal dystrophy [RCV003890398] | uncertain significance | 20 | 2660065 | 2660065 | Human | 2 | name |
| 405782452 | CV3267290 | single nucleotide variant | NM_006899.5(IDH3B):c.325G>C (p.Val109Leu) | not specified [RCV004397856] | uncertain significance | 20 | 2663458 | 2663458 | Human | | name |
| 405791644 | CV3267292 | single nucleotide variant | NM_006899.5(IDH3B):c.652A>G (p.Lys218Glu) | not specified [RCV004399928] | uncertain significance | 20 | 2660470 | 2660470 | Human | | name |
| 405791647 | CV3267293 | single nucleotide variant | NM_006899.5(IDH3B):c.654G>T (p.Lys218Asn) | not specified [RCV004399929] | uncertain significance | 20 | 2660468 | 2660468 | Human | | name |
| 11659459 | CV335094 | single nucleotide variant | NM_006899.5(IDH3B):c.917G>A (p.Gly306Asp) | Retinitis pigmentosa [RCV000358185] | uncertain significance | 20 | 2659792 | 2659792 | Human | 2 | name |
| 596939818 | CV3408077 | single nucleotide variant | NM_006899.5(IDH3B):c.908T>C (p.Phe303Ser) | Retinal dystrophy [RCV004814537] | uncertain significance | 20 | 2660037 | 2660037 | Human | 2 | name |
| 596941652 | CV3408278 | single nucleotide variant | NM_006899.5(IDH3B):c.998T>C (p.Leu333Pro) | Retinal dystrophy [RCV004815949] | uncertain significance | 20 | 2659711 | 2659711 | Human | 2 | name |
| 11645132 | CV344874 | single nucleotide variant | NM_006899.5(IDH3B):c.916G>T (p.Gly306Cys) | Retinitis pigmentosa [RCV000263764] | uncertain significance | 20 | 2659793 | 2659793 | Human | 2 | name |
| 11631304 | CV349788 | single nucleotide variant | NM_006899.5(IDH3B):c.830T>C (p.Ile277Thr) | Optic atrophy [RCV004816587]|Retinal dystrophy [RCV004816586]|Retinitis pigmentosa [RCV000373525]|not provided [RCV001040488]|not specified [RCV004021829] | uncertain significance | 20 | 2660115 | 2660115 | Human | 6 | name |
| 11629828 | CV349790 | single nucleotide variant | NM_006899.5(IDH3B):c.624G>C (p.Lys208Asn) | Retinitis pigmentosa [RCV000334005]|not provided [RCV001228709]|not specified [RCV004021830] | uncertain significance | 20 | 2660498 | 2660498 | Human | 2 | name |
| 597762528 | CV3683070 | single nucleotide variant | NM_006899.5(IDH3B):c.392G>A (p.Arg131Gln) | not specified [RCV004926144] | uncertain significance | 20 | 2660915 | 2660915 | Human | | name |
| 597762532 | CV3683071 | single nucleotide variant | NM_006899.5(IDH3B):c.600C>G (p.Phe200Leu) | not specified [RCV004926145] | uncertain significance | 20 | 2660522 | 2660522 | Human | | name |
| 597762537 | CV3683072 | single nucleotide variant | NM_006899.5(IDH3B):c.353C>T (p.Pro118Leu) | not specified [RCV004926146] | uncertain significance | 20 | 2660954 | 2660954 | Human | | name |
| 597651512 | CV3720671 | single nucleotide variant | NM_006899.5(IDH3B):c.667A>T (p.Lys223Ter) | Retinitis pigmentosa 46 [RCV005026893] | likely pathogenic | 20 | 2660364 | 2660364 | Human | 1 | name , alternate_id |
| 597651518 | CV3720672 | single nucleotide variant | NM_006899.5(IDH3B):c.571C>T (p.Arg191Ter) | Retinitis pigmentosa 46 [RCV005026894]|not provided [RCV005112789] | pathogenic|likely pathogenic | 20 | 2660551 | 2660551 | Human | 1 | name , alternate_id |
| 597690937 | CV3720673 | single nucleotide variant | NM_006899.5(IDH3B):c.373C>G (p.Leu125Val) | Retinitis pigmentosa 46 [RCV005032504] | uncertain significance | 20 | 2660934 | 2660934 | Human | 1 | name , alternate_id |
| 598257665 | CV3979059 | single nucleotide variant | NM_006899.5(IDH3B):c.629G>A (p.Arg210Gln) | not specified [RCV005347038] | uncertain significance | 20 | 2660493 | 2660493 | Human | | name |
| 598257676 | CV3979061 | single nucleotide variant | NM_006899.5(IDH3B):c.424G>A (p.Val142Ile) | not specified [RCV005347040] | uncertain significance | 20 | 2660804 | 2660804 | Human | | name |
| 26918099 | CV848262 | single nucleotide variant | NM_006899.5(IDH3B):c.722C>T (p.Pro241Leu) | not provided [RCV001042901] | uncertain significance | 20 | 2660309 | 2660309 | Human | | name |
| 26887865 | CV848263 | single nucleotide variant | NM_006899.5(IDH3B):c.684G>T (p.Leu228Phe) | not provided [RCV001056890] | uncertain significance | 20 | 2660347 | 2660347 | Human | | name |
| 26893748 | CV848264 | single nucleotide variant | NM_006899.5(IDH3B):c.539G>A (p.Arg180Lys) | not provided [RCV001062898] | uncertain significance | 20 | 2660583 | 2660583 | Human | | name |
| 28895807 | CV885951 | single nucleotide variant | NM_006899.5(IDH3B):c.706G>C (p.Val236Leu) | Retinitis pigmentosa [RCV001141016] | uncertain significance | 20 | 2660325 | 2660325 | Human | 2 | name |
| 38497600 | CV951023 | single nucleotide variant | NM_006899.5(IDH3B):c.756C>G (p.Asn252Lys) | not provided [RCV001227188] | uncertain significance | 20 | 2660275 | 2660275 | Human | | name |
| 38464200 | CV958800 | single nucleotide variant | NM_006899.5(IDH3B):c.914C>T (p.Thr305Met) | not provided [RCV001247357] | uncertain significance | 20 | 2660031 | 2660031 | Human | | name |
| 38491710 | CV958801 | single nucleotide variant | NM_006899.5(IDH3B):c.812A>G (p.Asn271Ser) | not provided [RCV001239618]|not specified [RCV004034622] | uncertain significance | 20 | 2660133 | 2660133 | Human | | name |
| 38461532 | CV958802 | single nucleotide variant | NM_006899.5(IDH3B):c.685T>C (p.Phe229Leu) | not provided [RCV001246979] | uncertain significance | 20 | 2660346 | 2660346 | Human | | name |
| 38493690 | CV958803 | single nucleotide variant | NM_006899.5(IDH3B):c.532A>G (p.Ser178Gly) | not provided [RCV001240855] | uncertain significance | 20 | 2660590 | 2660590 | Human | | name |
| 39456879 | CV965641 | single nucleotide variant | NM_006899.5(IDH3B):c.857G>A (p.Gly286Glu) | Retinitis pigmentosa 46 [RCV001255191]|not provided [RCV001879933]|not specified [RCV004690036] | pathogenic|uncertain significance | 20 | 2660088 | 2660088 | Human | 1 | name , alternate_id |
| 126756292 | CV998927 | single nucleotide variant | NM_006899.5(IDH3B):c.712G>A (p.Glu238Lys) | not provided [RCV001298541] | uncertain significance | 20 | 2660319 | 2660319 | Human | | name |
| 126738098 | CV998928 | single nucleotide variant | NM_006899.5(IDH3B):c.586C>T (p.Arg196Trp) | not provided [RCV001304958]|not specified [RCV004629549] | uncertain significance | 20 | 2660536 | 2660536 | Human | | name |
| 126758158 | CV998929 | single nucleotide variant | NM_006899.5(IDH3B):c.425T>C (p.Val142Ala) | not provided [RCV001308631] | uncertain significance | 20 | 2660803 | 2660803 | Human | | name |
| 126768311 | CV1014048 | single nucleotide variant | NM_006899.5(IDH3B):c.1079C>T (p.Thr360Ile) | not provided [RCV001321293] | uncertain significance | 20 | 2658830 | 2658830 | Human | | name |
| 126742652 | CV1034628 | single nucleotide variant | NM_006899.5(IDH3B):c.1154G>C (p.Ser385Thr) | not provided [RCV001351040] | uncertain significance | 20 | 2658755 | 2658755 | Human | | name |
| 151716509 | CV1346003 | single nucleotide variant | NM_006899.5(IDH3B):c.1059C>G (p.Ile353Met) | not provided [RCV001965308] | uncertain significance | 20 | 2659537 | 2659537 | Human | | name |
| 151785759 | CV1348828 | single nucleotide variant | NM_006899.5(IDH3B):c.1048A>G (p.Lys350Glu) | not provided [RCV001897669] | uncertain significance | 20 | 2659548 | 2659548 | Human | | name |
| 151667680 | CV1354034 | single nucleotide variant | NM_006899.5(IDH3B):c.1019A>G (p.Tyr340Cys) | not provided [RCV001963813] | uncertain significance | 20 | 2659577 | 2659577 | Human | | name |
| 151770504 | CV1366224 | single nucleotide variant | NM_006899.5(IDH3B):c.1091G>A (p.Gly364Asp) | not provided [RCV001929474] | uncertain significance | 20 | 2658818 | 2658818 | Human | | name |
| 151814628 | CV1382379 | single nucleotide variant | NM_006899.5(IDH3B):c.1147A>G (p.Lys383Glu) | not provided [RCV001992164] | uncertain significance | 20 | 2658762 | 2658762 | Human | | name |
| 151713495 | CV1384195 | single nucleotide variant | NM_006899.5(IDH3B):c.1036G>A (p.Ala346Thr) | not provided [RCV001908487]|not specified [RCV004927743] | uncertain significance | 20 | 2659560 | 2659560 | Human | | name |
| 151790659 | CV1393128 | single nucleotide variant | NM_006899.5(IDH3B):c.1000C>T (p.Arg334Trp) | Retinal dystrophy [RCV003888924]|not provided [RCV001931385]|not specified [RCV004041935] | uncertain significance | 20 | 2659709 | 2659709 | Human | 2 | name |
| 151886694 | CV1499644 | single nucleotide variant | NM_006899.5(IDH3B):c.1117A>G (p.Ile373Val) | not provided [RCV001887620] | uncertain significance | 20 | 2658792 | 2658792 | Human | | name |
| 156409986 | CV1962056 | single nucleotide variant | NM_006899.5(IDH3B):c.1030A>G (p.Met344Val) | not provided [RCV002587009] | uncertain significance | 20 | 2659566 | 2659566 | Human | | name |
| 155980005 | CV2073315 | single nucleotide variant | NM_006899.5(IDH3B):c.1007T>C (p.Leu336Pro) | not provided [RCV002842470] | uncertain significance | 20 | 2659702 | 2659702 | Human | | name |
| 156230023 | CV2164972 | single nucleotide variant | NM_006899.5(IDH3B):c.1101C>A (p.Ser367Arg) | not provided [RCV003043050] | uncertain significance | 20 | 2658808 | 2658808 | Human | | name |
| 156370347 | CV2174408 | single nucleotide variant | NM_006899.5(IDH3B):c.1042G>C (p.Ala348Pro) | not provided [RCV003049648] | uncertain significance | 20 | 2659554 | 2659554 | Human | | name |
| 401769927 | CV2718953 | single nucleotide variant | NM_006899.5(IDH3B):c.1126G>C (p.Val376Leu) | not specified [RCV004322546] | uncertain significance | 20 | 2658783 | 2658783 | Human | | name |
| 405152896 | CV3031557 | single nucleotide variant | NM_006899.5(IDH3B):c.1001G>A (p.Arg334Gln) | not provided [RCV003703414] | uncertain significance | 20 | 2659708 | 2659708 | Human | | name |
| 405263667 | CV3188836 | single nucleotide variant | NM_006899.5(IDH3B):c.1081C>G (p.Arg361Gly) | Retinal dystrophy [RCV003890395] | uncertain significance | 20 | 2658828 | 2658828 | Human | 2 | name |
| 405263670 | CV3188838 | single nucleotide variant | NM_006899.5(IDH3B):c.1075C>G (p.Arg359Gly) | Retinal dystrophy [RCV003890397] | uncertain significance | 20 | 2658834 | 2658834 | Human | 2 | name |
| 11621305 | CV335080 | single nucleotide variant | NM_006899.5(IDH3B):c.1132G>A (p.Gly378Ser) | Retinitis pigmentosa [RCV000347016]|not provided [RCV001423796] | likely benign|uncertain significance | 20 | 2658777 | 2658777 | Human | 2 | name |
| 11659894 | CV335090 | single nucleotide variant | NM_006899.5(IDH3B):c.1061A>G (p.Lys354Arg) | Retinitis pigmentosa [RCV000362059] | uncertain significance | 20 | 2659535 | 2659535 | Human | 2 | name |
| 407466837 | CV3444431 | single nucleotide variant | NM_006899.5(IDH3B):c.1025C>T (p.Ser342Phe) | not specified [RCV004635506] | uncertain significance | 20 | 2659571 | 2659571 | Human | | name |
| 11628686 | CV349785 | single nucleotide variant | NM_006899.5(IDH3B):c.1082G>A (p.Arg361Gln) | Retinitis pigmentosa [RCV000307368]|not provided [RCV001861162]|not specified [RCV004021828] | uncertain significance | 20 | 2658827 | 2658827 | Human | 2 | name |
| 598257671 | CV3979060 | single nucleotide variant | NM_006899.5(IDH3B):c.1057A>C (p.Ile353Leu) | not specified [RCV005347039] | uncertain significance | 20 | 2659539 | 2659539 | Human | | name |
| 26914006 | CV848260 | single nucleotide variant | NM_006899.5(IDH3B):c.1111G>A (p.Asp371Asn) | not provided [RCV001036894] | uncertain significance | 20 | 2658798 | 2658798 | Human | | name |
| 26891563 | CV848261 | single nucleotide variant | NM_006899.5(IDH3B):c.1076G>A (p.Arg359Gln) | not provided [RCV001060626] | uncertain significance | 20 | 2658833 | 2658833 | Human | | name |
| 28887181 | CV885949 | single nucleotide variant | NM_006899.5(IDH3B):c.1145C>G (p.Thr382Ser) | Retinitis pigmentosa [RCV001138026]|not provided [RCV001305132] | uncertain significance | 20 | 2658764 | 2658764 | Human | 2 | name |
| 38497598 | CV951022 | single nucleotide variant | NM_006899.5(IDH3B):c.1151G>A (p.Gly384Glu) | not provided [RCV001227187] | uncertain significance | 20 | 2658758 | 2658758 | Human | | name |
| 126733997 | CV998925 | single nucleotide variant | NM_006899.5(IDH3B):c.1131C>G (p.Ile377Met) | not provided [RCV001294839] | uncertain significance | 20 | 2658778 | 2658778 | Human | | name |
| 126732185 | CV998926 | single nucleotide variant | NM_006899.5(IDH3B):c.1081C>T (p.Arg361Ter) | not provided [RCV001304041] | uncertain significance | 20 | 2658828 | 2658828 | Human | | name |
| 151872032 | CV1435108 | deletion | NM_006899.5(IDH3B):c.128_138del (p.Val43fs) | not provided [RCV001939936] | pathogenic|uncertain significance | 20 | 2663738 | 2663748 | Human | | name |
| 155959797 | CV2088913 | microsatellite | NM_006899.5(IDH3B):c.280GAG[1] (p.Glu95del) | not provided [RCV002880963] | uncertain significance | 20 | 2663498 | 2663500 | Human | | name |
| 126910939 | CV1051645 | deletion | NM_006899.5(IDH3B):c.551_554del (p.Glu184fs) | Retinitis pigmentosa 46 [RCV005023103]|not provided [RCV001368980] | pathogenic|likely pathogenic|uncertain significance | 20 | 2660568 | 2660571 | Human | 1 | name , alternate_id |
| 597690924 | CV3720669 | deletion | NM_006899.5(IDH3B):c.918_924del (p.Ala307fs) | Retinitis pigmentosa 46 [RCV005032503] | likely pathogenic | 20 | 2659785 | 2659791 | Human | 1 | name , alternate_id |
| 597651502 | CV3720670 | deletion | NM_006899.5(IDH3B):c.700_703del (p.Glu234fs) | Retinitis pigmentosa 46 [RCV005026892] | likely pathogenic | 20 | 2660328 | 2660331 | Human | 1 | name , alternate_id |
| 156260941 | CV1960639 | microsatellite | NM_006899.5(IDH3B):c.1048AAG[1] (p.Lys351del) | not provided [RCV002576843] | uncertain significance | 20 | 2659543 | 2659545 | Human | | name |
| 11625599 | CV335089 | microsatellite | NM_006899.5(IDH3B):c.1115TCA[1] (p.Ile373del) | Retinal dystrophy [RCV004816584]|Retinitis Pigmentosa, Recessive [RCV000401029]|Retinitis pigmentosa 46 [RCV002504140]|not provided [RCV001234998] | uncertain significance | 20 | 2658789 | 2658791 | Human | | name , alternate_id |
| 151797337 | CV1476570 | indel | NM_006899.5(IDH3B):c.37-18_117+71delinsGACCTTA | not provided [RCV001931987] | uncertain significance | 20 | 2663854 | 2664023 | Human | | name |
| 155965720 | CV1977994 | deletion | NM_006899.5(IDH3B):c.1120_1121del (p.Lys374fs) | not provided [RCV002616945] | uncertain significance | 20 | 2658788 | 2658789 | Human | | name |
| 405263666 | CV3188835 | insertion | NM_006899.5(IDH3B):c.1081_1082insTAGGT (p.Arg361fs) | Retinal dystrophy [RCV003890394] | uncertain significance | 20 | 2658827 | 2658828 | Human | 2 | name |
| 405263668 | CV3188837 | deletion | NM_006899.5(IDH3B):c.1076_1078del (p.Arg359_Thr360delinsPro) | Retinal dystrophy [RCV003890396] | uncertain significance | 20 | 2658831 | 2658833 | Human | 2 | name |