IDH3B (isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta) - Rat Genome Database

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Gene: IDH3B (isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta) Homo sapiens
Analyze
Symbol: IDH3B
Name: isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta
RGD ID: 1349945
HGNC Page HGNC:5385
Description: Predicted to enable enzyme activator activity. Involved in tricarboxylic acid cycle. Located in mitochondrion. Part of isocitrate dehydrogenase complex (NAD+). Implicated in retinitis pigmentosa 46.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ11043; H-IDHB; isocitrate dehydrogenase (NAD(+)) 3 beta; isocitrate dehydrogenase 3 (NAD(+)) beta; isocitrate dehydrogenase 3 (NAD+) beta; isocitrate dehydrogenase [NAD] subunit beta, mitochondrial; isocitrate dehydrogenase, NAD(+)-specific, mitochondrial, beta subunit; isocitric dehydrogenase subunit beta; MGC903; NAD(+)-specific ICDH subunit beta; NAD+-specific ICDH; NAD+-specific isocitrate dehydrogenase b subunit; NAD+-specific isocitrate dehydrogenase beta; RP46
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38202,658,395 - 2,664,216 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl202,658,393 - 2,664,219 (-)EnsemblGRCh38hg38GRCh38
GRCh37202,639,041 - 2,644,862 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36202,587,041 - 2,592,843 (-)NCBINCBI36Build 36hg18NCBI36
Build 34202,587,042 - 2,592,843NCBI
Celera202,703,504 - 2,709,306 (-)NCBICelera
Cytogenetic Map20p13NCBI
HuRef202,588,269 - 2,594,156 (-)NCBIHuRef
CHM1_1202,639,448 - 2,645,272 (-)NCBICHM1_1
T2T-CHM13v2.0202,688,862 - 2,694,697 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
isocitrate dehydrogenase complex (NAD+)  (IDA,IEA,IPI)
mitochondrial matrix  (TAS)
mitochondrion  (HTP,IBA,IDA,IEA,NAS,TAS)
nucleus  (HDA)

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Preparation and properties of mitochondria derived from synaptosomes. Lai JC and Clark JB, Biochem J. 1976 Feb 15;154(2):423-32.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:10575215   PMID:10601238   PMID:10677231   PMID:11780052   PMID:12477932   PMID:14555658   PMID:14702039   PMID:15489334   PMID:15653693   PMID:16169070   PMID:16713569   PMID:16737955  
PMID:17314511   PMID:17432878   PMID:17567985   PMID:18457437   PMID:18806796   PMID:19498431   PMID:20301590   PMID:20435888   PMID:20877624   PMID:21630459   PMID:21873635   PMID:21900206  
PMID:22658674   PMID:22678362   PMID:23443559   PMID:23798571   PMID:24711643   PMID:24797263   PMID:25921289   PMID:26058080   PMID:26186194   PMID:26344197   PMID:26618866   PMID:26638075  
PMID:26752685   PMID:26972000   PMID:27320910   PMID:27637333   PMID:27684187   PMID:28380382   PMID:28514442   PMID:28515276   PMID:28947420   PMID:29053956   PMID:29111377   PMID:29467282  
PMID:29568061   PMID:30833792   PMID:30948266   PMID:31053633   PMID:31091453   PMID:31182584   PMID:31515270   PMID:31536960   PMID:31586073   PMID:31753913   PMID:31871319   PMID:31995728  
PMID:32457219   PMID:32513696   PMID:32619879   PMID:32628020   PMID:32838362   PMID:32850835   PMID:32877691   PMID:32941674   PMID:33239621   PMID:33462405   PMID:33637726   PMID:33658012  
PMID:33742100   PMID:33961781   PMID:34011540   PMID:34079125   PMID:34709727   PMID:34800366   PMID:35032548   PMID:35241646   PMID:35256949   PMID:35439318   PMID:35509820   PMID:35545034  
PMID:35831314   PMID:35944360   PMID:36114006   PMID:36215168   PMID:36424410   PMID:36517590   PMID:36537216   PMID:36634849   PMID:36652389   PMID:36736316   PMID:37071682   PMID:37314216  
PMID:37317656   PMID:37827155   PMID:38113892   PMID:38679634   PMID:39147351  


Genomics

Comparative Map Data
IDH3B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38202,658,395 - 2,664,216 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl202,658,393 - 2,664,219 (-)EnsemblGRCh38hg38GRCh38
GRCh37202,639,041 - 2,644,862 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36202,587,041 - 2,592,843 (-)NCBINCBI36Build 36hg18NCBI36
Build 34202,587,042 - 2,592,843NCBI
Celera202,703,504 - 2,709,306 (-)NCBICelera
Cytogenetic Map20p13NCBI
HuRef202,588,269 - 2,594,156 (-)NCBIHuRef
CHM1_1202,639,448 - 2,645,272 (-)NCBICHM1_1
T2T-CHM13v2.0202,688,862 - 2,694,697 (-)NCBIT2T-CHM13v2.0
Idh3b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392130,121,229 - 130,126,371 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2130,121,229 - 130,126,467 (-)EnsemblGRCm39 Ensembl
GRCm382130,279,309 - 130,284,451 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2130,279,309 - 130,284,547 (-)EnsemblGRCm38mm10GRCm38
MGSCv372130,105,045 - 130,110,187 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362129,970,753 - 129,983,751 (-)NCBIMGSCv36mm8
Celera2131,503,716 - 131,508,858 (-)NCBICelera
Cytogenetic Map2F1NCBI
cM Map263.2NCBI
Idh3b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83137,934,971 - 137,940,275 (-)NCBIGRCr8
mRatBN7.23117,481,845 - 117,486,909 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3117,481,845 - 117,486,982 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3121,379,896 - 121,384,925 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03129,975,515 - 129,980,544 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03127,636,012 - 127,641,041 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.03122,808,564 - 122,813,638 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3122,808,564 - 122,813,583 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03129,308,279 - 129,313,315 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43117,892,614 - 117,897,633 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.13117,798,468 - 117,800,065 (-)NCBI
Celera3116,298,150 - 116,303,169 (-)NCBICelera
Cytogenetic Map3q36NCBI
Idh3b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541513,643,168 - 13,649,463 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541513,642,804 - 13,649,023 (-)NCBIChiLan1.0ChiLan1.0
IDH3B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2213,647,477 - 3,677,553 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1203,644,302 - 3,674,378 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0202,766,598 - 2,772,571 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1202,529,510 - 2,559,894 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl202,529,510 - 2,535,570 (-)Ensemblpanpan1.1panPan2
IDH3B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12418,556,437 - 18,561,399 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2418,556,508 - 18,561,391 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2418,385,740 - 18,390,707 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02419,014,265 - 19,019,181 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2419,014,285 - 19,019,174 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12418,570,449 - 18,575,416 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02418,680,753 - 18,685,668 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02419,009,851 - 19,014,767 (+)NCBIUU_Cfam_GSD_1.0
Idh3b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640167,601,899 - 167,606,729 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648516,033,128 - 16,042,821 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648516,033,287 - 16,038,097 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IDH3B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1732,955,101 - 32,960,104 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11732,955,061 - 32,960,110 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21737,446,330 - 37,451,309 (-)NCBISscrofa10.2Sscrofa10.2susScr3
IDH3B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1253,875,991 - 53,882,069 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl253,875,390 - 53,881,716 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666087292,746 - 299,180 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Idh3b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247413,808,784 - 3,814,510 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247413,808,436 - 3,814,239 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in IDH3B
283 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006899.5(IDH3B):c.589del (p.Ile197fs) deletion Retinitis pigmentosa 46 [RCV000005840] Chr20:2660533 [GRCh38]
Chr20:2641179 [GRCh37]
Chr20:20p13		 pathogenic
NM_006899.5(IDH3B):c.395T>C (p.Leu132Pro) single nucleotide variant Retinitis pigmentosa 46 [RCV000005841]|not provided [RCV003555931] Chr20:2660912 [GRCh38]
Chr20:2641558 [GRCh37]
Chr20:20p13		 pathogenic|uncertain significance
GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3 copy number gain See cases [RCV000051227] Chr20:89939..25697564 [GRCh38]
Chr20:70580..25678200 [GRCh37]
Chr20:18580..25626200 [NCBI36]
Chr20:20p13-11.21		 pathogenic
GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3 copy number gain See cases [RCV000051041] Chr20:89939..19146279 [GRCh38]
Chr20:70580..19126923 [GRCh37]
Chr20:18580..19074923 [NCBI36]
Chr20:20p13-11.23		 pathogenic
GRCh38/hg38 20p13(chr20:2595077-3004837)x3 copy number gain See cases [RCV000052758] Chr20:2595077..3004837 [GRCh38]
Chr20:2575723..2985483 [GRCh37]
Chr20:2523723..2933483 [NCBI36]
Chr20:20p13		 uncertain significance
GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3 copy number gain See cases [RCV000052995] Chr20:89939..19071495 [GRCh38]
Chr20:70580..19052139 [GRCh37]
Chr20:18580..19000139 [NCBI36]
Chr20:20p13-11.23		 pathogenic
GRCh38/hg38 20p13-11.22(chr20:89939-21787252)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052996]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052996]|See cases [RCV000052996] Chr20:89939..21787252 [GRCh38]
Chr20:70580..21767890 [GRCh37]
Chr20:18580..21715890 [NCBI36]
Chr20:20p13-11.22		 pathogenic
GRCh38/hg38 20p13-12.1(chr20:89939-14818511)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052997]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052997]|See cases [RCV000052997] Chr20:89939..14818511 [GRCh38]
Chr20:70580..14799157 [GRCh37]
Chr20:18580..14747157 [NCBI36]
Chr20:20p13-12.1		 pathogenic
NM_006899.5(IDH3B):c.117+6C>A single nucleotide variant IDH3B-related disorder [RCV003935056]|Retinitis pigmentosa [RCV000395761]|not provided [RCV000970913]|not specified [RCV000081467] Chr20:2663919 [GRCh38]
Chr20:2644565 [GRCh37]
Chr20:20p13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006899.5(IDH3B):c.1072-4G>A single nucleotide variant IDH3B-related disorder [RCV003927594]|not provided [RCV000174356] Chr20:2658841 [GRCh38]
Chr20:2639487 [GRCh37]
Chr20:20p13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006899.5(IDH3B):c.1011-9T>C single nucleotide variant not provided [RCV000174117] Chr20:2659594 [GRCh38]
Chr20:2640240 [GRCh37]
Chr20:20p13		 conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3 copy number gain See cases [RCV000133996] Chr20:80106..30227427 [GRCh38]
Chr20:60747..29462103 [GRCh37]
Chr20:8747..28075764 [NCBI36]
Chr20:20p13-q11.1		 pathogenic
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33		 pathogenic
GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3 copy number gain See cases [RCV000138677] Chr20:80106..13029401 [GRCh38]
Chr20:60747..13010049 [GRCh37]
Chr20:8747..12958049 [NCBI36]
Chr20:20p13-12.1		 pathogenic
GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3 copy number gain See cases [RCV000139597] Chr20:80093..6386012 [GRCh38]
Chr20:60734..6366659 [GRCh37]
Chr20:8734..6314659 [NCBI36]
Chr20:20p13-12.3		 pathogenic
GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3 copy number gain See cases [RCV000141348] Chr20:84402..6159078 [GRCh38]
Chr20:65043..6139725 [GRCh37]
Chr20:13043..6087725 [NCBI36]
Chr20:20p13-12.3		 pathogenic
GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3 copy number gain See cases [RCV000142017] Chr20:80927..26324843 [GRCh38]
Chr20:61568..26305479 [GRCh37]
Chr20:9568..26253479 [NCBI36]
Chr20:20p13-11.1		 pathogenic
GRCh38/hg38 20p13-12.3(chr20:80927-5447679)x3 copy number gain See cases [RCV000142285] Chr20:80927..5447679 [GRCh38]
Chr20:61568..5428325 [GRCh37]
Chr20:9568..5376325 [NCBI36]
Chr20:20p13-12.3		 uncertain significance
GRCh38/hg38 20p13-12.3(chr20:1269303-8626911)x3 copy number gain See cases [RCV000142917] Chr20:1269303..8626911 [GRCh38]
Chr20:1249947..8607558 [GRCh37]
Chr20:1197947..8555558 [NCBI36]
Chr20:20p13-12.3		 pathogenic
GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3 copy number gain See cases [RCV000143426] Chr20:80928..18688031 [GRCh38]
Chr20:61569..18668675 [GRCh37]
Chr20:9569..18616675 [NCBI36]
Chr20:20p13-11.23		 pathogenic
GRCh38/hg38 20p13(chr20:2526755-3081651)x3 copy number gain See cases [RCV000143472] Chr20:2526755..3081651 [GRCh38]
Chr20:2507401..3062297 [GRCh37]
Chr20:2455401..3010297 [NCBI36]
Chr20:20p13		 uncertain significance
GRCh37/hg19 20p13-12.3(chr20:121521-5564937)x3 copy number gain See cases [RCV000239772] Chr20:121521..5564937 [GRCh37]
Chr20:20p13-12.3		 pathogenic
NM_006899.5(IDH3B):c.74G>A (p.Gly25Asp) single nucleotide variant IDH3B-related disorder [RCV003908065]|not provided [RCV000756265] Chr20:2663968 [GRCh38]
Chr20:2644614 [GRCh37]
Chr20:20p13		 benign|likely benign
GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3 copy number gain See cases [RCV000239954] Chr20:80198..26075841 [GRCh37]
Chr20:20p13-11.1		 pathogenic
NM_006899.5(IDH3B):c.684G>A (p.Leu228=) single nucleotide variant Retinitis pigmentosa [RCV000260091]|not provided [RCV001423091] Chr20:2660347 [GRCh38]
Chr20:2640993 [GRCh37]
Chr20:20p13		 likely benign|uncertain significance
NM_006899.5(IDH3B):c.1082G>A (p.Arg361Gln) single nucleotide variant Retinitis pigmentosa [RCV000307368]|not provided [RCV001861162]|not specified [RCV004021828] Chr20:2658827 [GRCh38]
Chr20:2639473 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.*203T>C single nucleotide variant Retinitis pigmentosa [RCV000310665] Chr20:2658548 [GRCh38]
Chr20:2639194 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.1132G>A (p.Gly378Ser) single nucleotide variant Retinitis pigmentosa [RCV000347016]|not provided [RCV001423796] Chr20:2658777 [GRCh38]
Chr20:2639423 [GRCh37]
Chr20:20p13		 likely benign|uncertain significance
NM_006899.5(IDH3B):c.916-10C>T single nucleotide variant IDH3B-related disorder [RCV003932348]|Retinitis pigmentosa [RCV000318929]|not provided [RCV002057730] Chr20:2659803 [GRCh38]
Chr20:2640449 [GRCh37]
Chr20:20p13		 likely benign|uncertain significance
NM_006899.5(IDH3B):c.981G>A (p.Leu327=) single nucleotide variant not provided [RCV000279599] Chr20:2659728 [GRCh38]
Chr20:2640374 [GRCh37]
Chr20:20p13		 conflicting interpretations of pathogenicity|uncertain significance
NM_006899.5(IDH3B):c.*235A>G single nucleotide variant Retinitis pigmentosa [RCV000350400]|not provided [RCV001707664] Chr20:2658516 [GRCh38]
Chr20:2639162 [GRCh37]
Chr20:20p13		 benign|likely benign
NM_006899.5(IDH3B):c.830T>C (p.Ile277Thr) single nucleotide variant Retinitis pigmentosa [RCV000373525]|not provided [RCV001040488]|not specified [RCV004021829] Chr20:2660115 [GRCh38]
Chr20:2640761 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.1115TCA[1] (p.Ile373del) microsatellite Retinitis Pigmentosa, Recessive [RCV000401029]|Retinitis pigmentosa 46 [RCV002504140]|not provided [RCV001234998] Chr20:2658789..2658791 [GRCh38]
Chr20:2639435..2639437 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.916G>T (p.Gly306Cys) single nucleotide variant Retinitis pigmentosa [RCV000263764] Chr20:2659793 [GRCh38]
Chr20:2640439 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.624G>C (p.Lys208Asn) single nucleotide variant Retinitis pigmentosa [RCV000334005]|not provided [RCV001228709]|not specified [RCV004021830] Chr20:2660498 [GRCh38]
Chr20:2641144 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.522G>T (p.Leu174=) single nucleotide variant Retinitis pigmentosa [RCV000386679]|not provided [RCV000591163] Chr20:2660706 [GRCh38]
Chr20:2641352 [GRCh37]
Chr20:20p13		 conflicting interpretations of pathogenicity|uncertain significance
NM_006899.5(IDH3B):c.426A>G (p.Val142=) single nucleotide variant Retinitis pigmentosa [RCV000292272] Chr20:2660802 [GRCh38]
Chr20:2641448 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.252C>T (p.His84=) single nucleotide variant Retinitis pigmentosa [RCV000383200]|not provided [RCV001523369]|not specified [RCV001700070] Chr20:2663531 [GRCh38]
Chr20:2644177 [GRCh37]
Chr20:20p13		 benign|uncertain significance
NM_006899.5(IDH3B):c.*253T>C single nucleotide variant Retinitis pigmentosa [RCV000295524] Chr20:2658498 [GRCh38]
Chr20:2639144 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.118-3G>C single nucleotide variant Retinitis pigmentosa 46 [RCV001702617]|Retinitis pigmentosa [RCV000343632]|not provided [RCV001523417] Chr20:2663761 [GRCh38]
Chr20:2644407 [GRCh37]
Chr20:20p13		 benign
NM_006899.5(IDH3B):c.818A>G (p.Tyr273Cys) single nucleotide variant not provided [RCV000362984] Chr20:2660127 [GRCh38]
Chr20:2640773 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.399-12G>T single nucleotide variant Retinitis pigmentosa [RCV000347329]|not provided [RCV002523154] Chr20:2660841 [GRCh38]
Chr20:2641487 [GRCh37]
Chr20:20p13		 likely benign|uncertain significance
NM_006899.5(IDH3B):c.1047G>A (p.Val349=) single nucleotide variant Retinitis pigmentosa [RCV000266890]|not provided [RCV000968401] Chr20:2659549 [GRCh38]
Chr20:2640195 [GRCh37]
Chr20:20p13		 benign|likely benign|uncertain significance
NM_006899.5(IDH3B):c.1061A>G (p.Lys354Arg) single nucleotide variant Retinitis pigmentosa [RCV000362059] Chr20:2659535 [GRCh38]
Chr20:2640181 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.1014T>C (p.Leu338=) single nucleotide variant Retinitis pigmentosa [RCV000303339]|not provided [RCV001462884] Chr20:2659582 [GRCh38]
Chr20:2640228 [GRCh37]
Chr20:20p13		 likely benign|uncertain significance
NM_006899.5(IDH3B):c.66A>G (p.Ala22=) single nucleotide variant Retinitis pigmentosa [RCV000304066] Chr20:2663976 [GRCh38]
Chr20:2644622 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.161T>C (p.Leu54Pro) single nucleotide variant Retinitis pigmentosa [RCV000288605]|not provided [RCV001338794] Chr20:2663715 [GRCh38]
Chr20:2644361 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.917G>A (p.Gly306Asp) single nucleotide variant Retinitis pigmentosa [RCV000358185] Chr20:2659792 [GRCh38]
Chr20:2640438 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.*212A>G single nucleotide variant Retinitis pigmentosa [RCV000397694] Chr20:2658539 [GRCh38]
Chr20:2639185 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.665+9C>T single nucleotide variant not provided [RCV000592552] Chr20:2660448 [GRCh38]
Chr20:2641094 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.665+8G>T single nucleotide variant not provided [RCV000595539] Chr20:2660449 [GRCh38]
Chr20:2641095 [GRCh37]
Chr20:20p13		 conflicting interpretations of pathogenicity|uncertain significance
NM_006899.5(IDH3B):c.34C>T (p.Arg12Ter) single nucleotide variant Retinitis pigmentosa 46 [RCV002499364]|not provided [RCV000732343] Chr20:2664155 [GRCh38]
Chr20:2644801 [GRCh37]
Chr20:20p13		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 20p13(chr20:61568-4914872)x3 copy number gain See cases [RCV000446883] Chr20:61568..4914872 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13(chr20:61568-4904599)x3 copy number gain See cases [RCV000448397] Chr20:61568..4904599 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3 copy number gain not provided [RCV000487461] Chr20:80198..26208081 [GRCh37]
Chr20:20p13-q11.21		 pathogenic
GRCh37/hg19 20p13-12.3(chr20:213423-5483406)x3 copy number gain See cases [RCV000510531] Chr20:213423..5483406 [GRCh37]
Chr20:20p13-12.3		 uncertain significance
GRCh37/hg19 20p13-12.3(chr20:2463101-8185680)x1 copy number loss See cases [RCV000511897] Chr20:2463101..8185680 [GRCh37]
Chr20:20p13-12.3		 pathogenic
GRCh37/hg19 20p13(chr20:61568-2824960)x3 copy number gain See cases [RCV000511991] Chr20:61568..2824960 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_006899.5(IDH3B):c.1126G>C (p.Val376Leu) single nucleotide variant not specified [RCV004322546] Chr20:2658783 [GRCh38]
Chr20:2639429 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.665+8_665+9delinsTT indel not provided [RCV000596070] Chr20:2660448..2660449 [GRCh38]
Chr20:2641094..2641095 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-12.2(chr20:61568-10486106)x3 copy number gain See cases [RCV000512556] Chr20:61568..10486106 [GRCh37]
Chr20:20p13-12.2		 likely pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_006899.5(IDH3B):c.1071+69C>T single nucleotide variant not provided [RCV001708906] Chr20:2659456 [GRCh38]
Chr20:2640102 [GRCh37]
Chr20:20p13		 benign
NC_000020.11:g.2664431G>A single nucleotide variant not provided [RCV001681614] Chr20:2664431 [GRCh38]
Chr20:2645077 [GRCh37]
Chr20:20p13		 benign
NM_006899.5(IDH3B):c.1071+108G>T single nucleotide variant not provided [RCV001679042] Chr20:2659417 [GRCh38]
Chr20:2640063 [GRCh37]
Chr20:20p13		 benign
NM_006899.5(IDH3B):c.59del (p.Pro20fs) deletion not provided [RCV000787616] Chr20:2663983 [GRCh38]
Chr20:2644629 [GRCh37]
Chr20:20p13		 likely pathogenic
NM_006899.5(IDH3B):c.1076G>A (p.Arg359Gln) single nucleotide variant not provided [RCV001060626] Chr20:2658833 [GRCh38]
Chr20:2639479 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.165G>A (p.Pro55=) single nucleotide variant not provided [RCV000901294] Chr20:2663711 [GRCh38]
Chr20:2644357 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.37-1G>A single nucleotide variant not provided [RCV001047116] Chr20:2664006 [GRCh38]
Chr20:2644652 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.722C>T (p.Pro241Leu) single nucleotide variant not provided [RCV001042901] Chr20:2660309 [GRCh38]
Chr20:2640955 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.768+1G>T single nucleotide variant Retinitis pigmentosa [RCV000779345]|not provided [RCV003669171] Chr20:2660262 [GRCh38]
Chr20:2640908 [GRCh37]
Chr20:20p13		 likely pathogenic|uncertain significance
NM_006899.5(IDH3B):c.118-6A>G single nucleotide variant Retinitis pigmentosa [RCV001138117]|not provided [RCV001856764] Chr20:2663764 [GRCh38]
Chr20:2644410 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.*177A>G single nucleotide variant Retinitis pigmentosa [RCV001138024] Chr20:2658574 [GRCh38]
Chr20:2639220 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.216+3G>T single nucleotide variant not provided [RCV001202632] Chr20:2663657 [GRCh38]
Chr20:2644303 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.914C>T (p.Thr305Met) single nucleotide variant not provided [RCV001247357] Chr20:2660031 [GRCh38]
Chr20:2640677 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.812A>G (p.Asn271Ser) single nucleotide variant not provided [RCV001239618]|not specified [RCV004034622] Chr20:2660133 [GRCh38]
Chr20:2640779 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.1151G>A (p.Gly384Glu) single nucleotide variant not provided [RCV001227187] Chr20:2658758 [GRCh38]
Chr20:2639404 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.756C>G (p.Asn252Lys) single nucleotide variant not provided [RCV001227188] Chr20:2660275 [GRCh38]
Chr20:2640921 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.398+3A>C single nucleotide variant not provided [RCV001238105] Chr20:2660906 [GRCh38]
Chr20:2641552 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.685T>C (p.Phe229Leu) single nucleotide variant not provided [RCV001246979] Chr20:2660346 [GRCh38]
Chr20:2640992 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.*139G>A single nucleotide variant Retinitis pigmentosa [RCV001138025] Chr20:2658612 [GRCh38]
Chr20:2639258 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.1145C>G (p.Thr382Ser) single nucleotide variant Retinitis pigmentosa [RCV001138026]|not provided [RCV001305132] Chr20:2658764 [GRCh38]
Chr20:2639410 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.1072-172_1072-170del microsatellite not provided [RCV001673977] Chr20:2659007..2659009 [GRCh38]
Chr20:2639653..2639655 [GRCh37]
Chr20:20p13		 benign
NM_006899.5(IDH3B):c.1072-219C>T single nucleotide variant not provided [RCV001713772] Chr20:2659056 [GRCh38]
Chr20:2639702 [GRCh37]
Chr20:20p13		 benign
NM_006899.5(IDH3B):c.1072-87C>A single nucleotide variant not provided [RCV001639968] Chr20:2658924 [GRCh38]
Chr20:2639570 [GRCh37]
Chr20:20p13		 benign
NM_006899.5(IDH3B):c.532A>G (p.Ser178Gly) single nucleotide variant not provided [RCV001240855] Chr20:2660590 [GRCh38]
Chr20:2641236 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.1A>G (p.Met1Val) single nucleotide variant not provided [RCV001064375] Chr20:2664188 [GRCh38]
Chr20:2644834 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.636G>A (p.Lys212=) single nucleotide variant Retinitis pigmentosa [RCV001137365]|not provided [RCV000957999] Chr20:2660486 [GRCh38]
Chr20:2641132 [GRCh37]
Chr20:20p13		 benign
NM_006899.5(IDH3B):c.261G>A (p.Glu87=) single nucleotide variant not provided [RCV000934323] Chr20:2663522 [GRCh38]
Chr20:2644168 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.1072-323C>T single nucleotide variant not provided [RCV001687886] Chr20:2659160 [GRCh38]
Chr20:2639806 [GRCh37]
Chr20:20p13		 benign
NM_006899.5(IDH3B):c.1071+138T>A single nucleotide variant not provided [RCV001678488] Chr20:2659387 [GRCh38]
Chr20:2640033 [GRCh37]
Chr20:20p13		 benign
GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3 copy number gain not provided [RCV001007068] Chr20:61568..26305479 [GRCh37]
Chr20:20p13-11.1		 pathogenic
NM_006899.5(IDH3B):c.1010+8A>G single nucleotide variant Retinitis pigmentosa [RCV001138441]|not provided [RCV002070627] Chr20:2659691 [GRCh38]
Chr20:2640337 [GRCh37]
Chr20:20p13		 benign|uncertain significance
NM_006899.5(IDH3B):c.684G>T (p.Leu228Phe) single nucleotide variant not provided [RCV001056890] Chr20:2660347 [GRCh38]
Chr20:2640993 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.916-8C>T single nucleotide variant Retinitis pigmentosa [RCV001141014] Chr20:2659801 [GRCh38]
Chr20:2640447 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.900C>T (p.Tyr300=) single nucleotide variant Retinitis pigmentosa [RCV001141015]|not provided [RCV001449437] Chr20:2660045 [GRCh38]
Chr20:2640691 [GRCh37]
Chr20:20p13		 likely benign|uncertain significance
NM_006899.5(IDH3B):c.539G>A (p.Arg180Lys) single nucleotide variant not provided [RCV001062898] Chr20:2660583 [GRCh38]
Chr20:2641229 [GRCh37]
Chr20:20p13		 uncertain significance
NC_000020.11:g.2664329C>T single nucleotide variant not provided [RCV001684571] Chr20:2664329 [GRCh38]
Chr20:2644975 [GRCh37]
Chr20:20p13		 benign
NM_006899.5(IDH3B):c.916-49A>G single nucleotide variant not provided [RCV001612626] Chr20:2659842 [GRCh38]
Chr20:2640488 [GRCh37]
Chr20:20p13		 benign
NM_006899.5(IDH3B):c.158T>C (p.Met53Thr) single nucleotide variant not provided [RCV001228256] Chr20:2663718 [GRCh38]
Chr20:2644364 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.41T>C (p.Leu14Pro) single nucleotide variant not provided [RCV001219061]|not specified [RCV004032348] Chr20:2664001 [GRCh38]
Chr20:2644647 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.337+11C>T single nucleotide variant Retinitis pigmentosa [RCV001142860]|not provided [RCV001512786] Chr20:2663435 [GRCh38]
Chr20:2644081 [GRCh37]
Chr20:20p13		 benign|uncertain significance
NM_006899.5(IDH3B):c.73G>A (p.Gly25Ser) single nucleotide variant Retinitis pigmentosa [RCV001138118]|not provided [RCV001244576] Chr20:2663969 [GRCh38]
Chr20:2644615 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.1111G>A (p.Asp371Asn) single nucleotide variant not provided [RCV001036894] Chr20:2658798 [GRCh38]
Chr20:2639444 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh37/hg19 20p13(chr20:2412267-2644557)x3 copy number gain not provided [RCV001007071] Chr20:2412267..2644557 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.706G>C (p.Val236Leu) single nucleotide variant Retinitis pigmentosa [RCV001141016] Chr20:2660325 [GRCh38]
Chr20:2640971 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.16G>A (p.Gly6Arg) single nucleotide variant Retinitis pigmentosa [RCV001138119] Chr20:2664173 [GRCh38]
Chr20:2644819 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.338-10G>T single nucleotide variant Retinitis pigmentosa [RCV001142859]|not provided [RCV003769682] Chr20:2660979 [GRCh38]
Chr20:2641625 [GRCh37]
Chr20:20p13		 likely benign|uncertain significance
NM_006899.5(IDH3B):c.160C>G (p.Leu54Val) single nucleotide variant Retinitis pigmentosa [RCV001142861] Chr20:2663716 [GRCh38]
Chr20:2644362 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.531+6G>T single nucleotide variant not provided [RCV001246038] Chr20:2660691 [GRCh38]
Chr20:2641337 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.857G>A (p.Gly286Glu) single nucleotide variant Retinitis pigmentosa 46 [RCV001255191]|not provided [RCV001879933]|not specified [RCV004690036] Chr20:2660088 [GRCh38]
Chr20:2640734 [GRCh37]
Chr20:20p13		 pathogenic|uncertain significance
NM_006899.5(IDH3B):c.17G>T (p.Gly6Val) single nucleotide variant not provided [RCV001313350] Chr20:2664172 [GRCh38]
Chr20:2644818 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.273G>A (p.Met91Ile) single nucleotide variant not provided [RCV001316394] Chr20:2663510 [GRCh38]
Chr20:2644156 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.117G>A (p.Gln39=) single nucleotide variant not provided [RCV001341256] Chr20:2663925 [GRCh38]
Chr20:2644571 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.124G>A (p.Asp42Asn) single nucleotide variant not provided [RCV001319375] Chr20:2663752 [GRCh38]
Chr20:2644398 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.542G>A (p.Gly181Asp) single nucleotide variant not provided [RCV001341735] Chr20:2660580 [GRCh38]
Chr20:2641226 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.1072-1G>A single nucleotide variant not provided [RCV001325394] Chr20:2658838 [GRCh38]
Chr20:2639484 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.1079C>T (p.Thr360Ile) single nucleotide variant not provided [RCV001321293] Chr20:2658830 [GRCh38]
Chr20:2639476 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.896A>C (p.Glu299Ala) single nucleotide variant not provided [RCV001369152] Chr20:2660049 [GRCh38]
Chr20:2640695 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.666-11dup duplication not provided [RCV001415275] Chr20:2660373..2660374 [GRCh38]
Chr20:2641019..2641020 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.1131C>G (p.Ile377Met) single nucleotide variant not provided [RCV001294839] Chr20:2658778 [GRCh38]
Chr20:2639424 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.127G>T (p.Val43Leu) single nucleotide variant not provided [RCV001327599]|not specified [RCV004035246] Chr20:2663749 [GRCh38]
Chr20:2644395 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.517T>G (p.Ser173Ala) single nucleotide variant not provided [RCV001344043] Chr20:2660711 [GRCh38]
Chr20:2641357 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.586C>T (p.Arg196Trp) single nucleotide variant not provided [RCV001304958]|not specified [RCV004629549] Chr20:2660536 [GRCh38]
Chr20:2641182 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.470A>G (p.Asn157Ser) single nucleotide variant not provided [RCV001313622] Chr20:2660758 [GRCh38]
Chr20:2641404 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.391C>T (p.Arg131Trp) single nucleotide variant not provided [RCV001319725] Chr20:2660916 [GRCh38]
Chr20:2641562 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.5C>T (p.Ala2Val) single nucleotide variant not provided [RCV001359893] Chr20:2664184 [GRCh38]
Chr20:2644830 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.1154G>C (p.Ser385Thr) single nucleotide variant not provided [RCV001351040] Chr20:2658755 [GRCh38]
Chr20:2639401 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.196G>A (p.Ala66Thr) single nucleotide variant not provided [RCV001297068]|not specified [RCV004036055] Chr20:2663680 [GRCh38]
Chr20:2644326 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.551_554del (p.Glu184fs) deletion not provided [RCV001368980] Chr20:2660568..2660571 [GRCh38]
Chr20:2641214..2641217 [GRCh37]
Chr20:20p13		 pathogenic|uncertain significance
NM_006899.5(IDH3B):c.162T>G (p.Leu54=) single nucleotide variant not provided [RCV001413710] Chr20:2663714 [GRCh38]
Chr20:2644360 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.400C>G (p.Arg134Gly) single nucleotide variant not provided [RCV001337889]|not specified [RCV004035848] Chr20:2660828 [GRCh38]
Chr20:2641474 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.712G>A (p.Glu238Lys) single nucleotide variant not provided [RCV001298541] Chr20:2660319 [GRCh38]
Chr20:2640965 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.590T>C (p.Ile197Thr) single nucleotide variant not provided [RCV001337412] Chr20:2660532 [GRCh38]
Chr20:2641178 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.1081C>T (p.Arg361Ter) single nucleotide variant not provided [RCV001304041] Chr20:2658828 [GRCh38]
Chr20:2639474 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.425T>C (p.Val142Ala) single nucleotide variant not provided [RCV001308631] Chr20:2660803 [GRCh38]
Chr20:2641449 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.315G>A (p.Lys105=) single nucleotide variant not provided [RCV001492184] Chr20:2663468 [GRCh38]
Chr20:2644114 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.1119C>T (p.Ile373=) single nucleotide variant not provided [RCV001458513] Chr20:2658790 [GRCh38]
Chr20:2639436 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.1143G>A (p.Gln381=) single nucleotide variant not provided [RCV001510517] Chr20:2658766 [GRCh38]
Chr20:2639412 [GRCh37]
Chr20:20p13		 benign
NM_006899.5(IDH3B):c.1146T>C (p.Thr382=) single nucleotide variant not provided [RCV001504973] Chr20:2658763 [GRCh38]
Chr20:2639409 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.187C>T (p.Leu63=) single nucleotide variant not provided [RCV001442181] Chr20:2663689 [GRCh38]
Chr20:2644335 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.665+8G>C single nucleotide variant not provided [RCV001470406] Chr20:2660449 [GRCh38]
Chr20:2641095 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.1158G>A (p.Ter386=) single nucleotide variant not provided [RCV001435716] Chr20:2658751 [GRCh38]
Chr20:2639397 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.984G>A (p.Ser328=) single nucleotide variant not provided [RCV001435730] Chr20:2659725 [GRCh38]
Chr20:2640371 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.705A>G (p.Glu235=) single nucleotide variant not provided [RCV001441570] Chr20:2660326 [GRCh38]
Chr20:2640972 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.21C>T (p.Val7=) single nucleotide variant not provided [RCV001403052] Chr20:2664168 [GRCh38]
Chr20:2644814 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.348T>C (p.His116=) single nucleotide variant not provided [RCV001430993] Chr20:2660959 [GRCh38]
Chr20:2641605 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.489T>C (p.Ile163=) single nucleotide variant not provided [RCV001428898] Chr20:2660739 [GRCh38]
Chr20:2641385 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.1035C>T (p.Ile345=) single nucleotide variant not provided [RCV001445084] Chr20:2659561 [GRCh38]
Chr20:2640207 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.1023C>T (p.His341=) single nucleotide variant not provided [RCV001461521] Chr20:2659573 [GRCh38]
Chr20:2640219 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.201C>T (p.Val67=) single nucleotide variant not provided [RCV001454920] Chr20:2663675 [GRCh38]
Chr20:2644321 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.579G>A (p.Lys193=) single nucleotide variant not provided [RCV001451362] Chr20:2660543 [GRCh38]
Chr20:2641189 [GRCh37]
Chr20:20p13		 likely benign
NC_000020.11:g.2664350G>A single nucleotide variant not provided [RCV001671568] Chr20:2664350 [GRCh38]
Chr20:2644996 [GRCh37]
Chr20:20p13		 benign
NM_006899.5(IDH3B):c.1072-13G>A single nucleotide variant not provided [RCV001456724] Chr20:2658850 [GRCh38]
Chr20:2639496 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.37-34G>T single nucleotide variant not provided [RCV001690187] Chr20:2664039 [GRCh38]
Chr20:2644685 [GRCh37]
Chr20:20p13		 benign
NM_006899.5(IDH3B):c.423C>T (p.Asn141=) single nucleotide variant not provided [RCV001405717] Chr20:2660805 [GRCh38]
Chr20:2641451 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.117+13C>G single nucleotide variant not provided [RCV001523760] Chr20:2663912 [GRCh38]
Chr20:2644558 [GRCh37]
Chr20:20p13		 benign
NM_006899.5(IDH3B):c.1080T>G (p.Thr360=) single nucleotide variant not provided [RCV001441088] Chr20:2658829 [GRCh38]
Chr20:2639475 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.1071+5G>A single nucleotide variant not provided [RCV001966238] Chr20:2659520 [GRCh38]
Chr20:2640166 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.461G>C (p.Arg154Pro) single nucleotide variant not provided [RCV001894280] Chr20:2660767 [GRCh38]
Chr20:2641413 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.1091G>A (p.Gly364Asp) single nucleotide variant not provided [RCV001929474] Chr20:2658818 [GRCh38]
Chr20:2639464 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.1019A>G (p.Tyr340Cys) single nucleotide variant not provided [RCV001963813] Chr20:2659577 [GRCh38]
Chr20:2640223 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.1059C>G (p.Ile353Met) single nucleotide variant not provided [RCV001965308] Chr20:2659537 [GRCh38]
Chr20:2640183 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.973A>C (p.Met325Leu) single nucleotide variant not provided [RCV001890413] Chr20:2659736 [GRCh38]
Chr20:2640382 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.1071+4A>T single nucleotide variant not provided [RCV001908029] Chr20:2659521 [GRCh38]
Chr20:2640167 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.992A>G (p.Asn331Ser) single nucleotide variant not provided [RCV001892253]|not specified [RCV004041191] Chr20:2659717 [GRCh38]
Chr20:2640363 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.1036G>A (p.Ala346Thr) single nucleotide variant not provided [RCV001908487] Chr20:2659560 [GRCh38]
Chr20:2640206 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.632G>A (p.Gly211Asp) single nucleotide variant not provided [RCV001882014] Chr20:2660490 [GRCh38]
Chr20:2641136 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.629G>T (p.Arg210Leu) single nucleotide variant not provided [RCV001886699] Chr20:2660493 [GRCh38]
Chr20:2641139 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.8C>A (p.Ala3Glu) single nucleotide variant not provided [RCV001900772] Chr20:2664181 [GRCh38]
Chr20:2644827 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.788A>G (p.Gln263Arg) single nucleotide variant not provided [RCV002037061] Chr20:2660157 [GRCh38]
Chr20:2640803 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.768+2T>G single nucleotide variant not provided [RCV002016986] Chr20:2660261 [GRCh38]
Chr20:2640907 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.460C>T (p.Arg154Trp) single nucleotide variant Retinal dystrophy [RCV003888898]|not provided [RCV001901485] Chr20:2660768 [GRCh38]
Chr20:2641414 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.1117A>G (p.Ile373Val) single nucleotide variant not provided [RCV001887620] Chr20:2658792 [GRCh38]
Chr20:2639438 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.1147A>G (p.Lys383Glu) single nucleotide variant not provided [RCV001992164] Chr20:2658762 [GRCh38]
Chr20:2639408 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.184G>T (p.Glu62Ter) single nucleotide variant not provided [RCV002026829] Chr20:2663692 [GRCh38]
Chr20:2644338 [GRCh37]
Chr20:20p13		 pathogenic|uncertain significance
NM_006899.5(IDH3B):c.82A>G (p.Thr28Ala) single nucleotide variant not provided [RCV001991098] Chr20:2663960 [GRCh38]
Chr20:2644606 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.1000C>T (p.Arg334Trp) single nucleotide variant Retinal dystrophy [RCV003888924]|not provided [RCV001931385]|not specified [RCV004041935] Chr20:2659709 [GRCh38]
Chr20:2640355 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.970G>A (p.Ala324Thr) single nucleotide variant not provided [RCV001934280] Chr20:2659739 [GRCh38]
Chr20:2640385 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.490C>T (p.Arg164Ter) single nucleotide variant not provided [RCV002045979] Chr20:2660738 [GRCh38]
Chr20:2641384 [GRCh37]
Chr20:20p13		 pathogenic|uncertain significance
NM_006899.5(IDH3B):c.398+5G>T single nucleotide variant not provided [RCV001995849] Chr20:2660904 [GRCh38]
Chr20:2641550 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.1071+3G>A single nucleotide variant not provided [RCV001917293] Chr20:2659522 [GRCh38]
Chr20:2640168 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.901G>A (p.Ala301Thr) single nucleotide variant not provided [RCV001990668] Chr20:2660044 [GRCh38]
Chr20:2640690 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.586C>G (p.Arg196Gly) single nucleotide variant not provided [RCV001995444] Chr20:2660536 [GRCh38]
Chr20:2641182 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.421A>G (p.Asn141Asp) single nucleotide variant not provided [RCV001932360] Chr20:2660807 [GRCh38]
Chr20:2641453 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.91G>A (p.Ala31Thr) single nucleotide variant not provided [RCV001920364] Chr20:2663951 [GRCh38]
Chr20:2644597 [GRCh37]
Chr20:20p13		 uncertain significance
NC_000020.10:g.(?_2644551)_(2644834_?)del deletion not provided [RCV001981741] Chr20:2644551..2644834 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.875C>T (p.Pro292Leu) single nucleotide variant not provided [RCV002016334] Chr20:2660070 [GRCh38]
Chr20:2640716 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.10T>G (p.Leu4Val) single nucleotide variant not provided [RCV001996547] Chr20:2664179 [GRCh38]
Chr20:2644825 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.923G>A (p.Arg308Gln) single nucleotide variant not provided [RCV001977183]|not specified [RCV004042212] Chr20:2659786 [GRCh38]
Chr20:2640432 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.477C>G (p.Asp159Glu) single nucleotide variant not provided [RCV001885963] Chr20:2660751 [GRCh38]
Chr20:2641397 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.159G>A (p.Met53Ile) single nucleotide variant not provided [RCV001884801] Chr20:2663717 [GRCh38]
Chr20:2644363 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.37-18_117+71delinsGACCTTA indel not provided [RCV001931987] Chr20:2663854..2664023 [GRCh38]
Chr20:2644500..2644669 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.1048A>G (p.Lys350Glu) single nucleotide variant not provided [RCV001897669] Chr20:2659548 [GRCh38]
Chr20:2640194 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.128_138del (p.Val43fs) deletion not provided [RCV001939936] Chr20:2663738..2663748 [GRCh38]
Chr20:2644384..2644394 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.415T>C (p.Phe139Leu) single nucleotide variant not provided [RCV001999084] Chr20:2660813 [GRCh38]
Chr20:2641459 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.571C>G (p.Arg191Gly) single nucleotide variant not provided [RCV002051415] Chr20:2660551 [GRCh38]
Chr20:2641197 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.529G>A (p.Glu177Lys) single nucleotide variant not provided [RCV002031709] Chr20:2660699 [GRCh38]
Chr20:2641345 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.527A>G (p.His176Arg) single nucleotide variant not provided [RCV001937231] Chr20:2660701 [GRCh38]
Chr20:2641347 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.513C>T (p.Tyr171=) single nucleotide variant not provided [RCV001951101] Chr20:2660715 [GRCh38]
Chr20:2641361 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.36+1G>A single nucleotide variant not provided [RCV001919907] Chr20:2664152 [GRCh38]
Chr20:2644798 [GRCh37]
Chr20:20p13		 likely pathogenic|uncertain significance
NM_006899.5(IDH3B):c.1026C>T (p.Ser342=) single nucleotide variant not provided [RCV002209175] Chr20:2659570 [GRCh38]
Chr20:2640216 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.1155C>T (p.Ser385=) single nucleotide variant not provided [RCV002145309] Chr20:2658754 [GRCh38]
Chr20:2639400 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.769-18C>T single nucleotide variant not provided [RCV002169215] Chr20:2660194 [GRCh38]
Chr20:2640840 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.532-12C>A single nucleotide variant not provided [RCV002106879] Chr20:2660602 [GRCh38]
Chr20:2641248 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.972C>T (p.Ala324=) single nucleotide variant not provided [RCV002172497] Chr20:2659737 [GRCh38]
Chr20:2640383 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.915+19T>C single nucleotide variant not provided [RCV002172964] Chr20:2660011 [GRCh38]
Chr20:2640657 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.289C>T (p.Leu97=) single nucleotide variant not provided [RCV002186930] Chr20:2663494 [GRCh38]
Chr20:2644140 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.51C>A (p.Ala17=) single nucleotide variant not provided [RCV002078888] Chr20:2663991 [GRCh38]
Chr20:2644637 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.768+8C>G single nucleotide variant not provided [RCV002088537] Chr20:2660255 [GRCh38]
Chr20:2640901 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.1072-15C>T single nucleotide variant not provided [RCV002195792] Chr20:2658852 [GRCh38]
Chr20:2639498 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.1072-14G>A single nucleotide variant not provided [RCV002180630] Chr20:2658851 [GRCh38]
Chr20:2639497 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.1002G>C (p.Arg334=) single nucleotide variant not provided [RCV002199268] Chr20:2659707 [GRCh38]
Chr20:2640353 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.600C>T (p.Phe200=) single nucleotide variant not provided [RCV002101714] Chr20:2660522 [GRCh38]
Chr20:2641168 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.118-10C>T single nucleotide variant not provided [RCV002220812] Chr20:2663768 [GRCh38]
Chr20:2644414 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.216+10C>T single nucleotide variant not provided [RCV002177380] Chr20:2663650 [GRCh38]
Chr20:2644296 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.1110C>T (p.Thr370=) single nucleotide variant not provided [RCV002198302] Chr20:2658799 [GRCh38]
Chr20:2639445 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.354G>A (p.Pro118=) single nucleotide variant not provided [RCV002144367] Chr20:2660953 [GRCh38]
Chr20:2641599 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.399-9C>T single nucleotide variant not provided [RCV002163809] Chr20:2660838 [GRCh38]
Chr20:2641484 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.468C>T (p.Asn156=) single nucleotide variant not provided [RCV002083923] Chr20:2660760 [GRCh38]
Chr20:2641406 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.1071+13G>A single nucleotide variant not provided [RCV002163855] Chr20:2659512 [GRCh38]
Chr20:2640158 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.582T>C (p.Ser194=) single nucleotide variant not provided [RCV002084450] Chr20:2660540 [GRCh38]
Chr20:2641186 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.1044G>A (p.Ala348=) single nucleotide variant not provided [RCV002144024] Chr20:2659552 [GRCh38]
Chr20:2640198 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.118-20C>T single nucleotide variant not provided [RCV002161474] Chr20:2663778 [GRCh38]
Chr20:2644424 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.921C>T (p.Ala307=) single nucleotide variant not provided [RCV002162399] Chr20:2659788 [GRCh38]
Chr20:2640434 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.337+20A>G single nucleotide variant not provided [RCV002183119] Chr20:2663426 [GRCh38]
Chr20:2644072 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.37-18T>G single nucleotide variant not provided [RCV002220821] Chr20:2664023 [GRCh38]
Chr20:2644669 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.398+12G>A single nucleotide variant not provided [RCV002198910] Chr20:2660897 [GRCh38]
Chr20:2641543 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.1010+20C>T single nucleotide variant not provided [RCV002143906] Chr20:2659679 [GRCh38]
Chr20:2640325 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.1131C>T (p.Ile377=) single nucleotide variant not provided [RCV002176231] Chr20:2658778 [GRCh38]
Chr20:2639424 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.666-18C>T single nucleotide variant not provided [RCV002160892] Chr20:2660383 [GRCh38]
Chr20:2641029 [GRCh37]
Chr20:20p13		 likely benign
NC_000020.10:g.(?_1959939)_(6760201_?)dup duplication Huntington disease-like 1 [RCV003110989]|Pigmentary pallidal degeneration [RCV003122285] Chr20:1959939..6760201 [GRCh37]
Chr20:20p13-12.3		 uncertain significance
NC_000020.10:g.(?_2639397)_(2644834_?)dup duplication not provided [RCV003109576] Chr20:2639397..2644834 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.92C>T (p.Ala31Val) single nucleotide variant not provided [RCV003118109] Chr20:2663950 [GRCh38]
Chr20:2644596 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.487A>G (p.Ile163Val) single nucleotide variant not provided [RCV002297266] Chr20:2660741 [GRCh38]
Chr20:2641387 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.263T>C (p.Val88Ala) single nucleotide variant not provided [RCV002294921] Chr20:2663520 [GRCh38]
Chr20:2644166 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.674G>A (p.Gly225Glu) single nucleotide variant not provided [RCV002298293] Chr20:2660357 [GRCh38]
Chr20:2641003 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.121G>A (p.Glu41Lys) single nucleotide variant not provided [RCV002301368] Chr20:2663755 [GRCh38]
Chr20:2644401 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.859G>A (p.Gly287Arg) single nucleotide variant not provided [RCV002296279] Chr20:2660086 [GRCh38]
Chr20:2640732 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.88G>A (p.Ala30Thr) single nucleotide variant not provided [RCV002301958] Chr20:2663954 [GRCh38]
Chr20:2644600 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.677A>G (p.Asp226Gly) single nucleotide variant not provided [RCV002991820] Chr20:2660354 [GRCh38]
Chr20:2641000 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.280GAG[1] (p.Glu95del) microsatellite not provided [RCV002880963] Chr20:2663498..2663500 [GRCh38]
Chr20:2644144..2644146 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.1120_1121del (p.Lys374fs) deletion not provided [RCV002616945] Chr20:2658788..2658789 [GRCh38]
Chr20:2639434..2639435 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.217-5T>G single nucleotide variant not provided [RCV002843049] Chr20:2663571 [GRCh38]
Chr20:2644217 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.208G>C (p.Val70Leu) single nucleotide variant not provided [RCV002861682] Chr20:2663668 [GRCh38]
Chr20:2644314 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.532-2A>G single nucleotide variant not provided [RCV003033234] Chr20:2660592 [GRCh38]
Chr20:2641238 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.216+10del deletion not provided [RCV003015769] Chr20:2663650 [GRCh38]
Chr20:2644296 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.399-6C>T single nucleotide variant not provided [RCV002880301] Chr20:2660835 [GRCh38]
Chr20:2641481 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.990C>G (p.Ser330=) single nucleotide variant not provided [RCV002838498] Chr20:2659719 [GRCh38]
Chr20:2640365 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.1007T>C (p.Leu336Pro) single nucleotide variant not provided [RCV002842470] Chr20:2659702 [GRCh38]
Chr20:2640348 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.15C>T (p.Ser5=) single nucleotide variant not provided [RCV002617891] Chr20:2664174 [GRCh38]
Chr20:2644820 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.33C>A (p.Thr11=) single nucleotide variant not provided [RCV003018728] Chr20:2664156 [GRCh38]
Chr20:2644802 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.139G>A (p.Gly47Ser) single nucleotide variant not specified [RCV004110057] Chr20:2663737 [GRCh38]
Chr20:2644383 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.118-18C>T single nucleotide variant not provided [RCV002659502] Chr20:2663776 [GRCh38]
Chr20:2644422 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.8C>T (p.Ala3Val) single nucleotide variant not provided [RCV002705220] Chr20:2664181 [GRCh38]
Chr20:2644827 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.856G>C (p.Gly286Arg) single nucleotide variant not provided [RCV002705969] Chr20:2660089 [GRCh38]
Chr20:2640735 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.264G>A (p.Val88=) single nucleotide variant not provided [RCV002735125] Chr20:2663519 [GRCh38]
Chr20:2644165 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.1010+1G>A single nucleotide variant not provided [RCV002979966] Chr20:2659698 [GRCh38]
Chr20:2640344 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.675G>T (p.Gly225=) single nucleotide variant not provided [RCV002824231] Chr20:2660356 [GRCh38]
Chr20:2641002 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.42G>C (p.Leu14=) single nucleotide variant not provided [RCV002736551] Chr20:2664000 [GRCh38]
Chr20:2644646 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.887A>G (p.Tyr296Cys) single nucleotide variant not provided [RCV002790680] Chr20:2660058 [GRCh38]
Chr20:2640704 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.117+1G>T single nucleotide variant not provided [RCV002741328] Chr20:2663924 [GRCh38]
Chr20:2644570 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.915+5G>A single nucleotide variant not provided [RCV002852663] Chr20:2660025 [GRCh38]
Chr20:2640671 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.117+13C>T single nucleotide variant not provided [RCV002871930] Chr20:2663912 [GRCh38]
Chr20:2644558 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.398+17G>A single nucleotide variant not provided [RCV002801096] Chr20:2660892 [GRCh38]
Chr20:2641538 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.14G>A (p.Ser5Asn) single nucleotide variant not provided [RCV003005976]|not specified [RCV004068536] Chr20:2664175 [GRCh38]
Chr20:2644821 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.399G>T (p.Arg133Ser) single nucleotide variant not provided [RCV002801760] Chr20:2660829 [GRCh38]
Chr20:2641475 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.1101C>A (p.Ser367Arg) single nucleotide variant not provided [RCV003043050] Chr20:2658808 [GRCh38]
Chr20:2639454 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.118-12C>G single nucleotide variant not provided [RCV003009699] Chr20:2663770 [GRCh38]
Chr20:2644416 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.337+8T>G single nucleotide variant not provided [RCV002811617] Chr20:2663438 [GRCh38]
Chr20:2644084 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.148C>A (p.Pro50Thr) single nucleotide variant not provided [RCV002720663] Chr20:2663728 [GRCh38]
Chr20:2644374 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.1072-19T>C single nucleotide variant not provided [RCV003048918] Chr20:2658856 [GRCh38]
Chr20:2639502 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.531+7C>G single nucleotide variant not provided [RCV003009792] Chr20:2660690 [GRCh38]
Chr20:2641336 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.1048AAG[1] (p.Lys351del) microsatellite not provided [RCV002576843] Chr20:2659543..2659545 [GRCh38]
Chr20:2640189..2640191 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.666-19C>T single nucleotide variant not provided [RCV003029438] Chr20:2660384 [GRCh38]
Chr20:2641030 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.532-9C>G single nucleotide variant not provided [RCV002649375] Chr20:2660599 [GRCh38]
Chr20:2641245 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.366G>C (p.Lys122Asn) single nucleotide variant not provided [RCV002646560] Chr20:2660941 [GRCh38]
Chr20:2641587 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.15C>A (p.Ser5Arg) single nucleotide variant not provided [RCV003010470] Chr20:2664174 [GRCh38]
Chr20:2644820 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.922C>T (p.Arg308Trp) single nucleotide variant not provided [RCV002631558]|not specified [RCV004066587] Chr20:2659787 [GRCh38]
Chr20:2640433 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.737A>G (p.Glu246Gly) single nucleotide variant not provided [RCV002601414] Chr20:2660294 [GRCh38]
Chr20:2640940 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.769-14A>C single nucleotide variant not provided [RCV003009476] Chr20:2660190 [GRCh38]
Chr20:2640836 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.222C>T (p.Ala74=) single nucleotide variant not provided [RCV002601832] Chr20:2663561 [GRCh38]
Chr20:2644207 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.15C>G (p.Ser5Arg) single nucleotide variant not provided [RCV003046383] Chr20:2664174 [GRCh38]
Chr20:2644820 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.45C>G (p.Val15=) single nucleotide variant not provided [RCV002810376] Chr20:2663997 [GRCh38]
Chr20:2644643 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.1095C>G (p.Gly365=) single nucleotide variant not provided [RCV002717022] Chr20:2658814 [GRCh38]
Chr20:2639460 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.116A>G (p.Gln39Arg) single nucleotide variant not provided [RCV003027975]|not specified [RCV004632155] Chr20:2663926 [GRCh38]
Chr20:2644572 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.398+19G>A single nucleotide variant not provided [RCV002650122] Chr20:2660890 [GRCh38]
Chr20:2641536 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.136G>A (p.Glu46Lys) single nucleotide variant not provided [RCV002856267] Chr20:2663740 [GRCh38]
Chr20:2644386 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.691C>T (p.Gln231Ter) single nucleotide variant not provided [RCV003048875] Chr20:2660340 [GRCh38]
Chr20:2640986 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.42G>A (p.Leu14=) single nucleotide variant not provided [RCV002598526] Chr20:2664000 [GRCh38]
Chr20:2644646 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.601G>A (p.Ala201Thr) single nucleotide variant not provided [RCV002609573] Chr20:2660521 [GRCh38]
Chr20:2641167 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.337+14C>T single nucleotide variant not provided [RCV002603952] Chr20:2663432 [GRCh38]
Chr20:2644078 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.398+16G>C single nucleotide variant not provided [RCV002653725] Chr20:2660893 [GRCh38]
Chr20:2641539 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.1030A>G (p.Met344Val) single nucleotide variant not provided [RCV002587009] Chr20:2659566 [GRCh38]
Chr20:2640212 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.968C>T (p.Thr323Met) single nucleotide variant not provided [RCV002658072]|not specified [RCV004066661] Chr20:2659741 [GRCh38]
Chr20:2640387 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.670C>A (p.Leu224Ile) single nucleotide variant not provided [RCV002725834] Chr20:2660361 [GRCh38]
Chr20:2641007 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.1042G>C (p.Ala348Pro) single nucleotide variant not provided [RCV003049648] Chr20:2659554 [GRCh38]
Chr20:2640200 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.97C>T (p.His33Tyr) single nucleotide variant not specified [RCV004267675] Chr20:2663945 [GRCh38]
Chr20:2644591 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3 copy number gain Renal agenesis [RCV003327640] Chr20:87153..23635465 [GRCh38]
Chr20:20p13-11.21		 pathogenic
GRCh37/hg19 20p13-12.2(chr20:61569-9542361)x3 copy number gain not provided [RCV003485207] Chr20:61569..9542361 [GRCh37]
Chr20:20p13-12.2		 pathogenic
NM_006899.5(IDH3B):c.1092C>T (p.Gly364=) single nucleotide variant not provided [RCV003830272] Chr20:2658817 [GRCh38]
Chr20:2639463 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.93G>A (p.Ala31=) single nucleotide variant not provided [RCV003824408] Chr20:2663949 [GRCh38]
Chr20:2644595 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.628C>T (p.Arg210Trp) single nucleotide variant not provided [RCV003880089] Chr20:2660494 [GRCh38]
Chr20:2641140 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.153G>A (p.Val51=) single nucleotide variant not provided [RCV003572617] Chr20:2663723 [GRCh38]
Chr20:2644369 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.117+17C>T single nucleotide variant not provided [RCV003714693] Chr20:2663908 [GRCh38]
Chr20:2644554 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.399-13T>G single nucleotide variant not provided [RCV003693307] Chr20:2660842 [GRCh38]
Chr20:2641488 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.665+12G>A single nucleotide variant not provided [RCV003689249] Chr20:2660445 [GRCh38]
Chr20:2641091 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.794A>T (p.Asp265Val) single nucleotide variant not provided [RCV003699746] Chr20:2660151 [GRCh38]
Chr20:2640797 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.1010+11G>A single nucleotide variant not provided [RCV003698702] Chr20:2659688 [GRCh38]
Chr20:2640334 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.217-13C>T single nucleotide variant not provided [RCV003672266] Chr20:2663579 [GRCh38]
Chr20:2644225 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.1001G>A (p.Arg334Gln) single nucleotide variant not provided [RCV003703414] Chr20:2659708 [GRCh38]
Chr20:2640354 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.969G>A (p.Thr323=) single nucleotide variant not provided [RCV003817645] Chr20:2659740 [GRCh38]
Chr20:2640386 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.195C>T (p.His65=) single nucleotide variant not provided [RCV003668861] Chr20:2663681 [GRCh38]
Chr20:2644327 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.915+20C>T single nucleotide variant not provided [RCV003816527] Chr20:2660010 [GRCh38]
Chr20:2640656 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.37-8T>C single nucleotide variant not provided [RCV003552357] Chr20:2664013 [GRCh38]
Chr20:2644659 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.798G>A (p.Val266=) single nucleotide variant not provided [RCV003562822] Chr20:2660147 [GRCh38]
Chr20:2640793 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.1072-5T>C single nucleotide variant not provided [RCV003705656] Chr20:2658842 [GRCh38]
Chr20:2639488 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.64G>T (p.Ala22Ser) single nucleotide variant not provided [RCV003680379] Chr20:2663978 [GRCh38]
Chr20:2644624 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.769-13T>C single nucleotide variant not provided [RCV003704258] Chr20:2660189 [GRCh38]
Chr20:2640835 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.916-4A>G single nucleotide variant not provided [RCV003853571] Chr20:2659797 [GRCh38]
Chr20:2640443 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.665+18G>A single nucleotide variant not provided [RCV003860361] Chr20:2660439 [GRCh38]
Chr20:2641085 [GRCh37]
Chr20:20p13		 likely benign
NC_000020.11:g.2663759del deletion not provided [RCV003711128] Chr20:2663758 [GRCh38]
Chr20:2644404 [GRCh37]
Chr20:20p13		 pathogenic
NM_006899.5(IDH3B):c.84C>T (p.Thr28=) single nucleotide variant not provided [RCV003823979] Chr20:2663958 [GRCh38]
Chr20:2644604 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.162T>C (p.Leu54=) single nucleotide variant not provided [RCV003553321] Chr20:2663714 [GRCh38]
Chr20:2644360 [GRCh37]
Chr20:20p13		 likely benign
GRCh37/hg19 20p13(chr20:2640674-4323312)x3 copy number gain not specified [RCV003986138] Chr20:2640674..4323312 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.117+3A>G single nucleotide variant not provided [RCV003553255] Chr20:2663922 [GRCh38]
Chr20:2644568 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3 copy number gain not provided [RCV003885494] Chr20:68351..16142323 [GRCh37]
Chr20:20p13-12.1		 pathogenic
NM_006899.5(IDH3B):c.*224C>A single nucleotide variant IDH3B-related disorder [RCV003937257] Chr20:2658527 [GRCh38]
Chr20:2639173 [GRCh37]
Chr20:20p13		 likely benign
NM_006899.5(IDH3B):c.1081C>G (p.Arg361Gly) single nucleotide variant Retinal dystrophy [RCV003890395] Chr20:2658828 [GRCh38]
Chr20:2639474 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.1076_1078del (p.Arg359_Thr360delinsPro) deletion Retinal dystrophy [RCV003890396] Chr20:2658831..2658833 [GRCh38]
Chr20:2639477..2639479 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3 copy number gain not provided [RCV003885495] Chr20:68351..23860313 [GRCh37]
Chr20:20p13-11.21		 pathogenic
NM_006899.5(IDH3B):c.1075C>G (p.Arg359Gly) single nucleotide variant Retinal dystrophy [RCV003890397] Chr20:2658834 [GRCh38]
Chr20:2639480 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.880G>A (p.Glu294Lys) single nucleotide variant Retinal dystrophy [RCV003890398] Chr20:2660065 [GRCh38]
Chr20:2640711 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.834C>T (p.Asp278=) single nucleotide variant Retinal dystrophy [RCV003890400] Chr20:2660111 [GRCh38]
Chr20:2640757 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.1081_1082insTAGGT (p.Arg361fs) insertion Retinal dystrophy [RCV003890394] Chr20:2658827..2658828 [GRCh38]
Chr20:2639473..2639474 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.325G>C (p.Val109Leu) single nucleotide variant not specified [RCV004397856] Chr20:2663458 [GRCh38]
Chr20:2644104 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.652A>G (p.Lys218Glu) single nucleotide variant not specified [RCV004399928] Chr20:2660470 [GRCh38]
Chr20:2641116 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.654G>T (p.Lys218Asn) single nucleotide variant not specified [RCV004399929] Chr20:2660468 [GRCh38]
Chr20:2641114 [GRCh37]
Chr20:20p13		 uncertain significance
NC_000020.10:g.(?_2361615)_(3903941_?)dup duplication not provided [RCV004580998] Chr20:2361615..3903941 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.1025C>T (p.Ser342Phe) single nucleotide variant not specified [RCV004635506] Chr20:2659571 [GRCh38]
Chr20:2640217 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006899.5(IDH3B):c.37G>T (p.Ala13Ser) single nucleotide variant not specified [RCV004635505] Chr20:2664005 [GRCh38]
Chr20:2644651 [GRCh37]
Chr20:20p13		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2881
Count of miRNA genes:802
Interacting mature miRNAs:962
Transcripts:ENST00000380843, ENST00000380851, ENST00000462967, ENST00000466494, ENST00000466999, ENST00000474315, ENST00000477689, ENST00000479376, ENST00000488299, ENST00000491065, ENST00000492240
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
D20S198  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37202,641,693 - 2,641,919UniSTSGRCh37
Build 36202,589,693 - 2,589,919RGDNCBI36
Celera202,706,156 - 2,706,382RGD
Cytogenetic Map20p13UniSTS
HuRef202,590,972 - 2,591,210UniSTS
Marshfield Genetic Map208.97RGD
Marshfield Genetic Map208.97UniSTS
Genethon Genetic Map208.8UniSTS
Whitehead-YAC Contig Map20 UniSTS
G54023  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37202,638,787 - 2,638,933UniSTSGRCh37
Build 36202,586,787 - 2,586,933RGDNCBI36
Celera202,703,250 - 2,703,396RGD
Cytogenetic Map20p13UniSTS
HuRef202,588,015 - 2,588,161UniSTS
WI-16193  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37202,639,064 - 2,639,191UniSTSGRCh37
Build 36202,587,064 - 2,587,191RGDNCBI36
Celera202,703,527 - 2,703,654RGD
Cytogenetic Map20p13UniSTS
HuRef202,588,292 - 2,588,419UniSTS
GeneMap99-GB4 RH Map2013.45UniSTS
GeneMap99-GB4 RH Map2012.93UniSTS
Whitehead-RH Map2028.8UniSTS
D20S1022  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37202,644,349 - 2,644,622UniSTSGRCh37
Build 36202,592,349 - 2,592,622RGDNCBI36
Celera202,708,812 - 2,709,085RGD
Cytogenetic Map20p13UniSTS
HuRef202,593,640 - 2,593,913UniSTS
GeneMap99-GB4 RH Map2011.93UniSTS
GeneMap99-GB4 RH Map2018.31UniSTS
Whitehead-RH Map2024.8UniSTS
Whitehead-YAC Contig Map20 UniSTS
NCBI RH Map2062.5UniSTS
RH74  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37202,639,142 - 2,639,299UniSTSGRCh37
Build 36202,587,142 - 2,587,299RGDNCBI36
Celera202,703,605 - 2,703,762RGD
Cytogenetic Map20p13UniSTS
HuRef202,588,370 - 2,588,527UniSTS
GeneMap99-GB4 RH Map2013.45UniSTS
NOL5A_7975  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37202,638,651 - 2,639,196UniSTSGRCh37
Build 36202,586,651 - 2,587,196RGDNCBI36
Celera202,703,114 - 2,703,659RGD
HuRef202,587,879 - 2,588,424UniSTS
D20S559E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37202,638,914 - 2,639,027UniSTSGRCh37
Build 36202,586,914 - 2,587,027RGDNCBI36
Celera202,703,377 - 2,703,490RGD
Cytogenetic Map20p13UniSTS
HuRef202,588,142 - 2,588,255UniSTS
GeneMap99-GB4 RH Map2013.35UniSTS
MARC_26128-26129:1030370563:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37202,640,393 - 2,640,784UniSTSGRCh37
Build 36202,588,393 - 2,588,784RGDNCBI36
Celera202,704,856 - 2,705,247RGD
HuRef202,589,672 - 2,590,063UniSTS
IDH3B_3390  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37202,639,022 - 2,639,443UniSTSGRCh37
Build 36202,587,022 - 2,587,443RGDNCBI36
Celera202,703,485 - 2,703,906RGD
HuRef202,588,250 - 2,588,671UniSTS
RH78034  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37202,639,064 - 2,640,216UniSTSGRCh37
Celera202,703,527 - 2,704,679UniSTS
Cytogenetic Map20p13UniSTS
HuRef202,588,292 - 2,589,495UniSTS
GeneMap99-GB4 RH Map2011.93UniSTS
NCBI RH Map2060.5UniSTS
RH78746  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37202,639,432 - 2,640,412UniSTSGRCh37
Celera202,703,895 - 2,704,875UniSTS
Cytogenetic Map20p13UniSTS
HuRef202,588,660 - 2,589,691UniSTS
GeneMap99-GB4 RH Map2011.93UniSTS
NCBI RH Map2063.3UniSTS
SGC32750  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37202,639,374 - 2,640,186UniSTSGRCh37
Celera202,703,837 - 2,704,649UniSTS
Cytogenetic Map20p13UniSTS
HuRef202,588,602 - 2,589,465UniSTS
GeneMap99-GB4 RH Map2011.93UniSTS
Whitehead-RH Map2024.8UniSTS
NCBI RH Map2061.5UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001258384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_174855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001754265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001754266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001754267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF046929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL049712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL050094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG745042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP872064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX119223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF548035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY131986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000380843   ⟹   ENSP00000370223
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl202,658,395 - 2,664,216 (-)Ensembl
Ensembl Acc Id: ENST00000380851   ⟹   ENSP00000370232
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl202,658,393 - 2,664,219 (-)Ensembl
Ensembl Acc Id: ENST00000462967
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl202,660,296 - 2,664,215 (-)Ensembl
Ensembl Acc Id: ENST00000466494   ⟹   ENSP00000487187
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl202,658,395 - 2,660,308 (-)Ensembl
Ensembl Acc Id: ENST00000466999
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl202,659,283 - 2,659,916 (-)Ensembl
Ensembl Acc Id: ENST00000474315   ⟹   ENSP00000482773
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl202,658,395 - 2,664,189 (-)Ensembl
Ensembl Acc Id: ENST00000477689   ⟹   ENSP00000485997
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl202,658,542 - 2,660,309 (-)Ensembl
Ensembl Acc Id: ENST00000479376
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl202,660,032 - 2,660,553 (-)Ensembl
Ensembl Acc Id: ENST00000488299
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl202,658,395 - 2,664,188 (-)Ensembl
Ensembl Acc Id: ENST00000491065
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl202,660,505 - 2,664,209 (-)Ensembl
Ensembl Acc Id: ENST00000492240
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl202,658,395 - 2,660,359 (-)Ensembl
Ensembl Acc Id: ENST00000613370   ⟹   ENSP00000484922
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl202,659,015 - 2,664,219 (-)Ensembl
RefSeq Acc Id: NM_001258384   ⟹   NP_001245313
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38202,659,015 - 2,664,216 (-)NCBI
HuRef202,588,269 - 2,594,156 (-)NCBI
CHM1_1202,640,068 - 2,645,276 (-)NCBI
T2T-CHM13v2.0202,689,482 - 2,694,697 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001330763   ⟹   NP_001317692
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38202,658,395 - 2,664,216 (-)NCBI
T2T-CHM13v2.0202,688,862 - 2,694,697 (-)NCBI
Sequence:
RefSeq Acc Id: NM_006899   ⟹   NP_008830
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38202,658,395 - 2,664,216 (-)NCBI
GRCh37202,639,041 - 2,644,865 (-)NCBI
Build 36202,587,041 - 2,592,843 (-)NCBI Archive
HuRef202,588,269 - 2,594,156 (-)NCBI
CHM1_1202,639,443 - 2,645,276 (-)NCBI
T2T-CHM13v2.0202,688,862 - 2,694,697 (-)NCBI
Sequence:
RefSeq Acc Id: NM_174855   ⟹   NP_777280
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38202,658,395 - 2,664,216 (-)NCBI
GRCh37202,639,041 - 2,644,865 (-)NCBI
Build 36202,587,041 - 2,592,843 (-)NCBI Archive
HuRef202,588,269 - 2,594,156 (-)NCBI
CHM1_1202,639,443 - 2,645,276 (-)NCBI
T2T-CHM13v2.0202,688,862 - 2,694,697 (-)NCBI
Sequence:
RefSeq Acc Id: NR_136344
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38202,658,395 - 2,664,216 (-)NCBI
CHM1_1202,639,443 - 2,645,276 (-)NCBI
T2T-CHM13v2.0202,688,862 - 2,694,697 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001754265
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38202,658,395 - 2,664,216 (-)NCBI
Sequence:
RefSeq Acc Id: XR_008485261
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0202,688,862 - 2,694,697 (-)NCBI
RefSeq Acc Id: NP_777280   ⟸   NM_174855
- Peptide Label: isoform b precursor
- UniProtKB: O43837 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_008830   ⟸   NM_006899
- Peptide Label: isoform a precursor
- UniProtKB: Q9UEX0 (UniProtKB/Swiss-Prot),   Q9NUZ0 (UniProtKB/Swiss-Prot),   Q9NQ07 (UniProtKB/Swiss-Prot),   Q9NQ06 (UniProtKB/Swiss-Prot),   Q5JXS8 (UniProtKB/Swiss-Prot),   O95106 (UniProtKB/Swiss-Prot),   D3DVX3 (UniProtKB/Swiss-Prot),   D3DVX2 (UniProtKB/Swiss-Prot),   B2RDR1 (UniProtKB/Swiss-Prot),   Q9UG99 (UniProtKB/Swiss-Prot),   O43837 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001245313   ⟸   NM_001258384
- Peptide Label: isoform d precursor
- UniProtKB: A0A087X2E5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001317692   ⟸   NM_001330763
- Peptide Label: isoform e precursor
- UniProtKB: A0A087WZN1 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000485997   ⟸   ENST00000477689
Ensembl Acc Id: ENSP00000487187   ⟸   ENST00000466494
Ensembl Acc Id: ENSP00000484922   ⟸   ENST00000613370
Ensembl Acc Id: ENSP00000370223   ⟸   ENST00000380843
Ensembl Acc Id: ENSP00000370232   ⟸   ENST00000380851
Ensembl Acc Id: ENSP00000482773   ⟸   ENST00000474315
Protein Domains
Isopropylmalate dehydrogenase-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O43837-F1-model_v2 AlphaFold O43837 1-385 view protein structure

Promoters
RGD ID:6798813
Promoter ID:HG_KWN:38379
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000077605,   OTTHUMT00000077606,   OTTHUMT00000077607,   OTTHUMT00000077609,   OTTHUMT00000077611
Position:
Human AssemblyChrPosition (strand)Source
Build 36202,588,361 - 2,589,367 (-)MPROMDB
RGD ID:6798712
Promoter ID:HG_KWN:38380
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000341825,   NM_174856,   OTTHUMT00000077588,   OTTHUMT00000077603,   OTTHUMT00000077604,   OTTHUMT00000077608,   OTTHUMT00000077610,   OTTHUMT00000077612,   OTTHUMT00000077613
Position:
Human AssemblyChrPosition (strand)Source
Build 36202,592,631 - 2,593,131 (-)MPROMDB
RGD ID:6851212
Promoter ID:EP73401
Type:initiation region
Name:HS_IDH3B
Description:Isocitrate dehydrogenase 3 (NAD+) beta.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36202,592,862 - 2,592,922EPD
RGD ID:13206175
Promoter ID:EPDNEW_H26668
Type:initiation region
Name:IDH3B_1
Description:isocitrate dehydrogenase 3 (NAD(+)) beta
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38202,664,216 - 2,664,276EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:5385 AgrOrtholog
COSMIC IDH3B COSMIC
Ensembl Genes ENSG00000101365 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000380843 ENTREZGENE
  ENST00000380843.9 UniProtKB/Swiss-Prot
  ENST00000380851 ENTREZGENE
  ENST00000380851.9 UniProtKB/Swiss-Prot
  ENST00000466494.6 UniProtKB/TrEMBL
  ENST00000474315 ENTREZGENE
  ENST00000474315.5 UniProtKB/TrEMBL
  ENST00000477689.2 UniProtKB/TrEMBL
  ENST00000613370 ENTREZGENE
  ENST00000613370.1 UniProtKB/TrEMBL
Gene3D-CATH Isopropylmalate Dehydrogenase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000101365 GTEx
HGNC ID HGNC:5385 ENTREZGENE
Human Proteome Map IDH3B Human Proteome Map
InterPro IsoCit/isopropylmalate_DH_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Isocitrate_DH_NAD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IsoPropMal-DH-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3420 UniProtKB/Swiss-Prot
NCBI Gene 3420 ENTREZGENE
OMIM 604526 OMIM
PANTHER DECARBOXYLATING DEHYDROGENASES-ISOCITRATE, ISOPROPYLMALATE, TARTRATE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ISOCITRATE DEHYDROGENASE [NAD] SUBUNIT BETA, MITOCHONDRIAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Iso_dh UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29633 PharmGKB
PROSITE IDH_IMDH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Iso_dh UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Isocitrate/Isopropylmalate dehydrogenase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WZN1 ENTREZGENE, UniProtKB/TrEMBL
  A0A087X2E5 ENTREZGENE, UniProtKB/TrEMBL
  A0A0D9SET9_HUMAN UniProtKB/TrEMBL
  A0A0D9SG66_HUMAN UniProtKB/TrEMBL
  B2RDR1 ENTREZGENE
  D3DVX2 ENTREZGENE
  D3DVX3 ENTREZGENE
  IDH3B_HUMAN UniProtKB/Swiss-Prot
  L0R875_HUMAN UniProtKB/TrEMBL
  O43837 ENTREZGENE
  O95106 ENTREZGENE
  Q5JXS8 ENTREZGENE
  Q9NQ06 ENTREZGENE
  Q9NQ07 ENTREZGENE
  Q9NUZ0 ENTREZGENE
  Q9UEX0 ENTREZGENE
  Q9UG99 ENTREZGENE
UniProt Secondary B2RDR1 UniProtKB/Swiss-Prot
  D3DVX2 UniProtKB/Swiss-Prot
  D3DVX3 UniProtKB/Swiss-Prot
  O95106 UniProtKB/Swiss-Prot
  Q5JXS8 UniProtKB/Swiss-Prot
  Q9NQ06 UniProtKB/Swiss-Prot
  Q9NQ07 UniProtKB/Swiss-Prot
  Q9NUZ0 UniProtKB/Swiss-Prot
  Q9UEX0 UniProtKB/Swiss-Prot
  Q9UG99 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-07-16 IDH3B  isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta  IDH3B  isocitrate dehydrogenase (NAD(+)) 3 beta  Symbol and/or name change 5135510 APPROVED
2019-04-16 IDH3B  isocitrate dehydrogenase (NAD(+)) 3 beta  IDH3B  isocitrate dehydrogenase 3 (NAD(+)) beta  Symbol and/or name change 5135510 APPROVED
2016-05-03 IDH3B  isocitrate dehydrogenase 3 (NAD(+)) beta  IDH3B  isocitrate dehydrogenase 3 (NAD+) beta  Symbol and/or name change 5135510 APPROVED