GEMIN5 (gem nuclear organelle associated protein 5) - Rat Genome Database

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Gene: GEMIN5 (gem nuclear organelle associated protein 5) Homo sapiens
Analyze
Symbol: GEMIN5
Name: gem nuclear organelle associated protein 5
RGD ID: 1321352
HGNC Page HGNC:20043
Description: Enables RNA binding activity and ribosome binding activity. Involved in regulation of translation and spliceosomal snRNP assembly. Located in cytosol and nuclear body. Part of SMN complex and SMN-Gemin2 complex. Implicated in neurodevelopmental disorder with cerebellar atrophy and motor dysfunction.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DKFZp586M1824; gem (nuclear organelle) associated protein 5; gem-associated protein 5; gemin 5; GEMIN-5; MGC142174; NEDCAM
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
GRCh385154,887,411 - 154,938,211 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5154,887,411 - 154,938,211 (-)EnsemblGRCh38hg38GRCh38
GRCh375154,266,971 - 154,317,771 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365154,247,169 - 154,297,964 (-)NCBINCBI36Build 36hg18NCBI36
Build 345154,247,962 - 154,297,886NCBI
Celera5150,343,913 - 150,394,636 (-)NCBICelera
Cytogenetic Map5q33.2NCBI
HuRef5149,408,827 - 149,459,559 (-)NCBIHuRef
CHM1_15153,699,395 - 153,750,170 (-)NCBICHM1_1
T2T-CHM13v2.05155,421,376 - 155,472,109 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-hydroxypropanoic acid  (EXP)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP)
acrylamide  (EXP)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
amphetamine  (ISO)
antimycin A  (EXP)
benzo[a]pyrene  (ISO)
benzo[a]pyrene diol epoxide I  (EXP)
beta-lapachone  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
cadmium dichloride  (EXP)
caffeine  (EXP)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
cisplatin  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
coumarin  (EXP)
CU-O LINKAGE  (EXP)
dexamethasone  (EXP)
Dibutyl phosphate  (EXP)
dicrotophos  (EXP)
doxorubicin  (EXP)
enzyme inhibitor  (EXP)
epoxiconazole  (ISO)
ethyl methanesulfonate  (EXP)
formaldehyde  (EXP)
FR900359  (EXP)
hydrogen peroxide  (EXP)
indometacin  (EXP)
ivermectin  (EXP)
lead(0)  (EXP)
methyl methanesulfonate  (EXP)
N,N-diethyl-m-toluamide  (ISO)
nickel atom  (EXP)
ozone  (EXP)
paracetamol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
permethrin  (ISO)
picoxystrobin  (EXP)
pirinixic acid  (EXP,ISO)
potassium chromate  (EXP)
rac-lactic acid  (EXP)
sodium arsenite  (EXP)
sodium fluoride  (ISO)
sunitinib  (EXP)
tetrachloromethane  (ISO)
thapsigargin  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
trimellitic anhydride  (ISO)
triphenyl phosphate  (EXP)
tungsten  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IDA,IEA)
cytosol  (IDA,TAS)
Gemini of Cajal bodies  (IEA)
membrane  (HDA)
nuclear body  (IDA)
nucleoplasm  (IDA,IEA,TAS)
nucleus  (IBA,IEA)
SMN complex  (IBA,IDA,IPI)
SMN-Gemin2 complex  (IDA)
SMN-Sm protein complex  (IDA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10531003   PMID:11714716   PMID:11914277   PMID:12065586   PMID:12067652   PMID:12477932   PMID:14702039   PMID:15130578   PMID:15302935   PMID:15489334   PMID:16230076   PMID:16344560  
PMID:16739988   PMID:16857593   PMID:16964243   PMID:17081983   PMID:17178713   PMID:17381311   PMID:17541429   PMID:17640370   PMID:17640873   PMID:18029348   PMID:18245461   PMID:18984161  
PMID:19377484   PMID:19750007   PMID:19946888   PMID:20085707   PMID:20513430   PMID:21145461   PMID:21873635   PMID:22268729   PMID:22586326   PMID:22658674   PMID:22863883   PMID:22939629  
PMID:22990118   PMID:23112048   PMID:23182705   PMID:23221635   PMID:23246001   PMID:24332808   PMID:24457600   PMID:24550385   PMID:24598255   PMID:24639526   PMID:24923560   PMID:25515538  
PMID:25631074   PMID:25756610   PMID:25911097   PMID:25921289   PMID:26069323   PMID:26167880   PMID:26186194   PMID:26496610   PMID:26831064   PMID:26908624   PMID:27507887   PMID:27881600  
PMID:27881601   PMID:28027390   PMID:28481362   PMID:28514442   PMID:28515276   PMID:29180619   PMID:29395067   PMID:29467282   PMID:29507755   PMID:29509190   PMID:29537490   PMID:29564676  
PMID:29771365   PMID:29802200   PMID:29845934   PMID:29884807   PMID:30196744   PMID:30209976   PMID:30224337   PMID:30295819   PMID:30463901   PMID:30833792   PMID:30948266   PMID:31091453  
PMID:31177093   PMID:31462741   PMID:31504727   PMID:31519766   PMID:31527615   PMID:31762063   PMID:31799608   PMID:31950832   PMID:31980649   PMID:32382008   PMID:32416067   PMID:32687490  
PMID:32786267   PMID:32807901   PMID:33005030   PMID:33144569   PMID:33239621   PMID:33397691   PMID:33545068   PMID:33766124   PMID:33916271   PMID:33961781   PMID:33963192   PMID:34226595  
PMID:34244565   PMID:34265304   PMID:34569062   PMID:34709266   PMID:35016035   PMID:35032548   PMID:35235311   PMID:35271311   PMID:35393353   PMID:35439318   PMID:35446349   PMID:35509820  
PMID:35748872   PMID:35819319   PMID:35831314   PMID:35944360   PMID:36057605   PMID:36114006   PMID:36180527   PMID:36215168   PMID:36232890   PMID:36841324   PMID:36980979   PMID:37039823  
PMID:37314180   PMID:37369805   PMID:37788672   PMID:37827155   PMID:38113892   PMID:38280479   PMID:38316953   PMID:38773790   PMID:39147351   PMID:39194147  


Genomics

Comparative Map Data
GEMIN5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385154,887,411 - 154,938,211 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5154,887,411 - 154,938,211 (-)EnsemblGRCh38hg38GRCh38
GRCh375154,266,971 - 154,317,771 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365154,247,169 - 154,297,964 (-)NCBINCBI36Build 36hg18NCBI36
Build 345154,247,962 - 154,297,886NCBI
Celera5150,343,913 - 150,394,636 (-)NCBICelera
Cytogenetic Map5q33.2NCBI
HuRef5149,408,827 - 149,459,559 (-)NCBIHuRef
CHM1_15153,699,395 - 153,750,170 (-)NCBICHM1_1
T2T-CHM13v2.05155,421,376 - 155,472,109 (-)NCBIT2T-CHM13v2.0
Gemin5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391158,010,827 - 58,059,378 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1158,010,828 - 58,059,365 (-)EnsemblGRCm39 Ensembl
GRCm381158,120,001 - 58,168,554 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1158,120,002 - 58,168,539 (-)EnsemblGRCm38mm10GRCm38
MGSCv371157,933,503 - 57,982,041 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361157,937,485 - 57,984,668 (-)NCBIMGSCv36mm8
Celera1162,874,539 - 62,922,743 (-)NCBICelera
Cytogenetic Map11B1.3NCBI
cM Map1135.72NCBI
Gemin5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81042,797,975 - 42,843,356 (-)NCBIGRCr8
mRatBN7.21042,295,729 - 42,342,902 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1042,297,515 - 42,342,892 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1046,962,694 - 47,008,013 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01046,452,964 - 46,498,280 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01041,956,619 - 42,001,939 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01043,552,260 - 43,599,241 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1043,554,046 - 43,599,232 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01043,344,664 - 43,392,988 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41043,754,719 - 43,796,361 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1041,587,419 - 41,632,698 (-)NCBICelera
Cytogenetic Map10q22NCBI
Gemin5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554089,134,191 - 9,178,980 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554089,136,490 - 9,179,087 (-)NCBIChiLan1.0ChiLan1.0
GEMIN5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v24150,090,687 - 150,142,788 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan15148,230,391 - 148,282,326 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v05150,290,809 - 150,342,124 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.15156,284,947 - 156,335,833 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl5156,285,679 - 156,335,750 (-)Ensemblpanpan1.1panPan2
GEMIN5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1454,894,747 - 54,934,869 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl454,894,784 - 54,934,986 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha454,786,403 - 54,827,125 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0455,328,838 - 55,369,587 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl455,328,853 - 55,368,691 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1455,159,988 - 55,201,286 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0455,256,709 - 55,297,578 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0455,761,058 - 55,801,792 (+)NCBIUU_Cfam_GSD_1.0
Gemin5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213109,473,757 - 109,520,939 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365157,922,852 - 7,970,925 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365157,923,113 - 7,971,507 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GEMIN5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1668,279,239 - 68,326,850 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11668,279,221 - 68,330,029 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21674,198,955 - 74,246,727 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GEMIN5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12357,333,907 - 57,383,814 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2357,332,805 - 57,383,802 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603420,278,669 - 20,328,209 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gemin5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473334,379,660 - 34,426,438 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473334,379,585 - 34,426,437 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GEMIN5
171 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_015465.5(GEMIN5):c.3203T>C (p.Leu1068Pro) single nucleotide variant Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction [RCV001449908] Chr5:154898582 [GRCh38]
Chr5:154278142 [GRCh37]
Chr5:5q33.2		 pathogenic|uncertain significance
NM_015465.5(GEMIN5):c.1602C>A (p.Tyr534Ter) single nucleotide variant Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction [RCV001449904] Chr5:154918002 [GRCh38]
Chr5:154297562 [GRCh37]
Chr5:5q33.2		 pathogenic
NM_015465.5(GEMIN5):c.3653CCT[1] (p.Ser1219del) microsatellite not provided [RCV000519750] Chr5:154892489..154892491 [GRCh38]
Chr5:154272049..154272051 [GRCh37]
Chr5:5q33.2		 uncertain significance
GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3 copy number gain See cases [RCV000051193] Chr5:130860928..155321811 [GRCh38]
Chr5:130196621..154701371 [GRCh37]
Chr5:130224520..154681564 [NCBI36]
Chr5:5q23.3-33.2		 pathogenic
GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3 copy number gain See cases [RCV000051863] Chr5:149714592..181272151 [GRCh38]
Chr5:149094155..180699152 [GRCh37]
Chr5:149074348..180631758 [NCBI36]
Chr5:5q32-35.3		 pathogenic
GRCh38/hg38 5q33.1-34(chr5:152761187-167248053)x1 copy number loss See cases [RCV000052144] Chr5:152761187..167248053 [GRCh38]
Chr5:152140747..166675058 [GRCh37]
Chr5:152120940..166607636 [NCBI36]
Chr5:5q33.1-34		 pathogenic
GRCh38/hg38 5q33.1-34(chr5:153195314-164014005)x1 copy number loss See cases [RCV000052145] Chr5:153195314..164014005 [GRCh38]
Chr5:152574874..163441011 [GRCh37]
Chr5:152555067..163373589 [NCBI36]
Chr5:5q33.1-34		 pathogenic
GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1 copy number loss See cases [RCV000053524] Chr5:106619588..156124387 [GRCh38]
Chr5:105955289..155551397 [GRCh37]
Chr5:105983188..155483975 [NCBI36]
Chr5:5q21.3-33.2		 pathogenic
NM_015465.4(GEMIN5):c.1212C>T (p.Ile404=) single nucleotide variant Malignant melanoma [RCV000066796] Chr5:154925943 [GRCh38]
Chr5:154305503 [GRCh37]
Chr5:154285696 [NCBI36]
Chr5:5q33.2		 not provided
NM_015465.4(GEMIN5):c.2432C>T (p.Ser811Leu) single nucleotide variant Malignant melanoma [RCV000061192] Chr5:154905440 [GRCh38]
Chr5:154285000 [GRCh37]
Chr5:154265193 [NCBI36]
Chr5:5q33.2		 not provided
GRCh38/hg38 5q33.1-34(chr5:152443869-166104392)x1 copy number loss See cases [RCV000138282] Chr5:152443869..166104392 [GRCh38]
Chr5:151823430..165531397 [GRCh37]
Chr5:151803623..165463975 [NCBI36]
Chr5:5q33.1-34		 pathogenic
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 copy number gain not provided [RCV000487658] Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3		 likely benign
NM_015465.5(GEMIN5):c.3833C>A (p.Ala1278Asp) single nucleotide variant not provided [RCV000521237] Chr5:154891670 [GRCh38]
Chr5:154271230 [GRCh37]
Chr5:5q33.2		 uncertain significance
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910)x3 copy number gain See cases [RCV000449349] Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3		 pathogenic
NM_015465.5(GEMIN5):c.3046C>T (p.Arg1016Cys) single nucleotide variant not provided [RCV000681623] Chr5:154899279 [GRCh38]
Chr5:154278839 [GRCh37]
Chr5:5q33.2		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 copy number gain See cases [RCV000448245] Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3		 pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_015465.5(GEMIN5):c.3032C>A (p.Ala1011Asp) single nucleotide variant Inborn genetic diseases [RCV003263087] Chr5:154899293 [GRCh38]
Chr5:154278853 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.4376A>C (p.Asp1459Ala) single nucleotide variant Inborn genetic diseases [RCV003267905] Chr5:154888361 [GRCh38]
Chr5:154267921 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.1627A>G (p.Ser543Gly) single nucleotide variant Inborn genetic diseases [RCV003311017] Chr5:154917977 [GRCh38]
Chr5:154297537 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.1119G>A (p.Trp373Ter) single nucleotide variant not provided [RCV000681624] Chr5:154926036 [GRCh38]
Chr5:154305596 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.1995+1G>A single nucleotide variant not provided [RCV004798315] Chr5:154912898 [GRCh38]
Chr5:154292458 [GRCh37]
Chr5:5q33.2		 likely pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_015465.5(GEMIN5):c.3386G>A (p.Arg1129Lys) single nucleotide variant not provided [RCV000915458] Chr5:154896303 [GRCh38]
Chr5:154275863 [GRCh37]
Chr5:5q33.2		 likely benign
NM_015465.5(GEMIN5):c.3194C>T (p.Ala1065Val) single nucleotide variant Inborn genetic diseases [RCV002547257]|not provided [RCV000954918] Chr5:154898591 [GRCh38]
Chr5:154278151 [GRCh37]
Chr5:5q33.2		 benign|likely benign
NM_015465.5(GEMIN5):c.4048G>A (p.Glu1350Lys) single nucleotide variant not provided [RCV000961679] Chr5:154891455 [GRCh38]
Chr5:154271015 [GRCh37]
Chr5:5q33.2		 benign
NM_015465.5(GEMIN5):c.2504A>G (p.Lys835Arg) single nucleotide variant GEMIN5-related disorder [RCV004553448]|not provided [RCV000963013] Chr5:154905368 [GRCh38]
Chr5:154284928 [GRCh37]
Chr5:5q33.2		 likely benign
GRCh37/hg19 5q32-35.3(chr5:149010383-180719789) copy number gain Hunter-McAlpine craniosynostosis [RCV002280612] Chr5:149010383..180719789 [GRCh37]
Chr5:5q32-35.3		 pathogenic
GRCh37/hg19 5q33.2-33.3(chr5:153785664-156189369)x1 copy number loss not provided [RCV000847656] Chr5:153785664..156189369 [GRCh37]
Chr5:5q33.2-33.3		 uncertain significance
NM_015465.5(GEMIN5):c.789G>T (p.Met263Ile) single nucleotide variant not provided [RCV000891741] Chr5:154928652 [GRCh38]
Chr5:154308212 [GRCh37]
Chr5:5q33.2		 benign
NM_015465.5(GEMIN5):c.755G>C (p.Arg252Pro) single nucleotide variant not provided [RCV004812963] Chr5:154931484 [GRCh38]
Chr5:154311044 [GRCh37]		 uncertain significance
NM_015465.5(GEMIN5):c.1979A>G (p.Tyr660Cys) single nucleotide variant Inborn genetic diseases [RCV003290995] Chr5:154912915 [GRCh38]
Chr5:154292475 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.625G>A (p.Glu209Lys) single nucleotide variant Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction [RCV004813403] Chr5:154932135 [GRCh38]
Chr5:154311695 [GRCh37]		 uncertain significance
NM_015465.5(GEMIN5):c.772A>G (p.Arg258Gly) single nucleotide variant Inborn genetic diseases [RCV003292686] Chr5:154931467 [GRCh38]
Chr5:154311027 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.2768A>C (p.His923Pro) single nucleotide variant GEMIN5-related disorder [RCV001553581] Chr5:154902637 [GRCh38]
Chr5:154282197 [GRCh37]
Chr5:5q33.2		 likely pathogenic
NM_015465.5(GEMIN5):c.4288T>G (p.Ser1430Ala) single nucleotide variant not provided [RCV000961678] Chr5:154889392 [GRCh38]
Chr5:154268952 [GRCh37]
Chr5:5q33.2		 benign
NM_015465.5(GEMIN5):c.87C>T (p.Gly29=) single nucleotide variant not provided [RCV000950409] Chr5:154938047 [GRCh38]
Chr5:154317607 [GRCh37]
Chr5:5q33.2		 benign|likely benign
NM_015465.5(GEMIN5):c.1388A>C (p.Gln463Pro) single nucleotide variant not provided [RCV000955347] Chr5:154921417 [GRCh38]
Chr5:154300977 [GRCh37]
Chr5:5q33.2		 benign
NM_015465.5(GEMIN5):c.241C>T (p.Leu81Phe) single nucleotide variant not provided [RCV000955348] Chr5:154937111 [GRCh38]
Chr5:154316671 [GRCh37]
Chr5:5q33.2		 benign
GRCh37/hg19 5q33.2(chr5:154117774-154339494)x1 copy number loss not provided [RCV001005744] Chr5:154117774..154339494 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.4176A>G (p.Gln1392=) single nucleotide variant Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction [RCV002479106]|not provided [RCV000956333] Chr5:154891327 [GRCh38]
Chr5:154270887 [GRCh37]
Chr5:5q33.2		 benign|likely benign
NM_015465.5(GEMIN5):c.628G>T (p.Asp210Tyr) single nucleotide variant Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction [RCV004797738] Chr5:154932132 [GRCh38]
Chr5:154311692 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.3096C>T (p.Val1032=) single nucleotide variant not provided [RCV000912827] Chr5:154899229 [GRCh38]
Chr5:154278789 [GRCh37]
Chr5:5q33.2		 likely benign
NM_015465.5(GEMIN5):c.32C>T (p.Ser11Phe) single nucleotide variant not provided [RCV003231769] Chr5:154938102 [GRCh38]
Chr5:154317662 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.4359+1G>T single nucleotide variant GEMIN5-related disorder [RCV001192634] Chr5:154889320 [GRCh38]
Chr5:154268880 [GRCh37]
Chr5:5q33.2		 likely pathogenic|uncertain significance
NM_015465.5(GEMIN5):c.2519_2522del (p.Ile840fs) deletion Essential tremor [RCV001543425] Chr5:154904617..154904620 [GRCh38]
Chr5:154284177..154284180 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.1267C>T (p.Gln423Ter) single nucleotide variant Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction [RCV002280311] Chr5:154925888 [GRCh38]
Chr5:154305448 [GRCh37]
Chr5:5q33.2		 likely pathogenic
NM_015465.5(GEMIN5):c.2998T>C (p.Ser1000Pro) single nucleotide variant Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction [RCV001449907] Chr5:154901355 [GRCh38]
Chr5:154280915 [GRCh37]
Chr5:5q33.2		 pathogenic
NM_015465.5(GEMIN5):c.2738A>G (p.His913Arg) single nucleotide variant Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction [RCV001449902] Chr5:154902667 [GRCh38]
Chr5:154282227 [GRCh37]
Chr5:5q33.2		 pathogenic
NM_015465.5(GEMIN5):c.3356T>C (p.Leu1119Ser) single nucleotide variant Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction [RCV001449903] Chr5:154896333 [GRCh38]
Chr5:154275893 [GRCh37]
Chr5:5q33.2		 pathogenic
NM_015465.5(GEMIN5):c.282G>A (p.Trp94Ter) single nucleotide variant Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction [RCV001449905] Chr5:154937070 [GRCh38]
Chr5:154316630 [GRCh37]
Chr5:5q33.2		 pathogenic
NM_015465.5(GEMIN5):c.3856T>A (p.Tyr1286Asn) single nucleotide variant Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction [RCV001449906] Chr5:154891647 [GRCh38]
Chr5:154271207 [GRCh37]
Chr5:5q33.2		 pathogenic
NM_015465.5(GEMIN5):c.3930_3933del (p.Ser1311fs) microsatellite not provided [RCV001755530] Chr5:154891570..154891573 [GRCh38]
Chr5:154271130..154271133 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.853C>T (p.Leu285Phe) single nucleotide variant Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction [RCV003333178]|not provided [RCV001768345] Chr5:154928588 [GRCh38]
Chr5:154308148 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.2321A>G (p.Glu774Gly) single nucleotide variant not provided [RCV001753309] Chr5:154907665 [GRCh38]
Chr5:154287225 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.3171dup (p.Val1058fs) duplication Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction [RCV003146241]|not provided [RCV001794639] Chr5:154898613..154898614 [GRCh38]
Chr5:154278173..154278174 [GRCh37]
Chr5:5q33.2		 likely pathogenic|uncertain significance
NM_015465.5(GEMIN5):c.2962A>T (p.Ile988Phe) single nucleotide variant GEMIN5-related disorder [RCV004579578]|GEMIN5-related neurodevelopmental disorder [RCV001795608]|Inborn genetic diseases [RCV004040849]|Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction [RCV004554873] Chr5:154901391 [GRCh38]
Chr5:154280951 [GRCh37]
Chr5:5q33.2		 likely pathogenic
NM_015465.5(GEMIN5):c.3149C>A (p.Thr1050Asn) single nucleotide variant not provided [RCV001758894] Chr5:154898636 [GRCh38]
Chr5:154278196 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.819AGG[1] (p.Gly276del) microsatellite not provided [RCV001759052] Chr5:154928617..154928619 [GRCh38]
Chr5:154308177..154308179 [GRCh37]
Chr5:5q33.2		 likely pathogenic|uncertain significance
NM_015465.5(GEMIN5):c.4263-1G>C single nucleotide variant Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction [RCV004798107] Chr5:154889418 [GRCh38]
Chr5:154268978 [GRCh37]
Chr5:5q33.2		 likely pathogenic
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910) copy number gain not specified [RCV002053526] Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3		 pathogenic
NM_015465.5(GEMIN5):c.1081-2A>G single nucleotide variant Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction [RCV004797737] Chr5:154926076 [GRCh38]
Chr5:154305636 [GRCh37]
Chr5:5q33.2		 likely pathogenic
NM_015465.5(GEMIN5):c.778C>T (p.Arg260Ter) single nucleotide variant not provided [RCV004784487] Chr5:154931461 [GRCh38]
Chr5:154311021 [GRCh37]
Chr5:5q33.2		 likely pathogenic
NM_015465.5(GEMIN5):c.2342A>G (p.Glu781Gly) single nucleotide variant Inborn genetic diseases [RCV003293814] Chr5:154907644 [GRCh38]
Chr5:154287204 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.4418A>T (p.His1473Leu) single nucleotide variant not provided [RCV004778182] Chr5:154888319 [GRCh38]
Chr5:154267879 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.3040C>T (p.Arg1014Trp) single nucleotide variant Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction [RCV003153055] Chr5:154899285 [GRCh38]
Chr5:154278845 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.2647G>A (p.Val883Met) single nucleotide variant not provided [RCV003234382] Chr5:154903161 [GRCh38]
Chr5:154282721 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.3347G>T (p.Gly1116Val) single nucleotide variant Inborn genetic diseases [RCV003277919] Chr5:154896342 [GRCh38]
Chr5:154275902 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.1811C>T (p.Ser604Phe) single nucleotide variant Inborn genetic diseases [RCV003096200]|not provided [RCV002275840]|not specified [RCV004526921] Chr5:154917042 [GRCh38]
Chr5:154296602 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.3851G>A (p.Arg1284His) single nucleotide variant not provided [RCV002276260] Chr5:154891652 [GRCh38]
Chr5:154271212 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.4378G>A (p.Val1460Met) single nucleotide variant Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction [RCV002266122] Chr5:154888359 [GRCh38]
Chr5:154267919 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.2393C>T (p.Ala798Val) single nucleotide variant not provided [RCV002269589] Chr5:154907593 [GRCh38]
Chr5:154287153 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.3973_3974insC (p.Glu1325fs) insertion Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction [RCV002289000] Chr5:154891529..154891530 [GRCh38]
Chr5:154271089..154271090 [GRCh37]
Chr5:5q33.2		 likely pathogenic
NM_015465.5(GEMIN5):c.2425G>T (p.Val809Phe) single nucleotide variant Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction [RCV003148370] Chr5:154905447 [GRCh38]
Chr5:154285007 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.1292C>T (p.Ala431Val) single nucleotide variant Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction [RCV003131014] Chr5:154925863 [GRCh38]
Chr5:154305423 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.2144A>G (p.Gln715Arg) single nucleotide variant Inborn genetic diseases [RCV003303976] Chr5:154911750 [GRCh38]
Chr5:154291310 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.2676T>A (p.His892Gln) single nucleotide variant Inborn genetic diseases [RCV003304124] Chr5:154903132 [GRCh38]
Chr5:154282692 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.2341G>C (p.Glu781Gln) single nucleotide variant Inborn genetic diseases [RCV003257218] Chr5:154907645 [GRCh38]
Chr5:154287205 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.2036G>A (p.Arg679Gln) single nucleotide variant Inborn genetic diseases [RCV003282403] Chr5:154911858 [GRCh38]
Chr5:154291418 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.3667G>T (p.Ala1223Ser) single nucleotide variant Inborn genetic diseases [RCV002902121] Chr5:154892480 [GRCh38]
Chr5:154272040 [GRCh37]
Chr5:5q33.2		 uncertain significance
GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3 copy number gain not provided [RCV002474507] Chr5:150535183..172906793 [GRCh37]
Chr5:5q33.1-35.2		 pathogenic
NM_015465.5(GEMIN5):c.1979A>T (p.Tyr660Phe) single nucleotide variant Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction [RCV003148409] Chr5:154912915 [GRCh38]
Chr5:154292475 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.4052G>A (p.Arg1351Gln) single nucleotide variant Inborn genetic diseases [RCV002969387] Chr5:154891451 [GRCh38]
Chr5:154271011 [GRCh37]
Chr5:5q33.2		 likely benign
NM_015465.5(GEMIN5):c.4036A>G (p.Thr1346Ala) single nucleotide variant Inborn genetic diseases [RCV002879685] Chr5:154891467 [GRCh38]
Chr5:154271027 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.3967A>T (p.Thr1323Ser) single nucleotide variant Inborn genetic diseases [RCV002973284] Chr5:154891536 [GRCh38]
Chr5:154271096 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.197G>A (p.Arg66Lys) single nucleotide variant Inborn genetic diseases [RCV002839838] Chr5:154937155 [GRCh38]
Chr5:154316715 [GRCh37]
Chr5:5q33.2		 likely benign
NM_015465.5(GEMIN5):c.4377T>G (p.Asp1459Glu) single nucleotide variant Inborn genetic diseases [RCV002863911] Chr5:154888360 [GRCh38]
Chr5:154267920 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.3429del (p.Ser1144fs) deletion Inborn genetic diseases [RCV002883085] Chr5:154896260 [GRCh38]
Chr5:154275820 [GRCh37]
Chr5:5q33.2		 pathogenic
NM_015465.5(GEMIN5):c.3298A>G (p.Asn1100Asp) single nucleotide variant Inborn genetic diseases [RCV002753736] Chr5:154898487 [GRCh38]
Chr5:154278047 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.94G>A (p.Ala32Thr) single nucleotide variant Inborn genetic diseases [RCV002859619] Chr5:154938040 [GRCh38]
Chr5:154317600 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.2012G>A (p.Arg671Gln) single nucleotide variant Inborn genetic diseases [RCV002731811] Chr5:154911882 [GRCh38]
Chr5:154291442 [GRCh37]
Chr5:5q33.2		 likely benign
NM_015465.5(GEMIN5):c.2576C>A (p.Ser859Tyr) single nucleotide variant Inborn genetic diseases [RCV002836743] Chr5:154904563 [GRCh38]
Chr5:154284123 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.1361A>G (p.Tyr454Cys) single nucleotide variant Inborn genetic diseases [RCV002911019] Chr5:154924487 [GRCh38]
Chr5:154304047 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.94G>C (p.Ala32Pro) single nucleotide variant Inborn genetic diseases [RCV002783529] Chr5:154938040 [GRCh38]
Chr5:154317600 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.1625T>A (p.Ile542Lys) single nucleotide variant Inborn genetic diseases [RCV002708154] Chr5:154917979 [GRCh38]
Chr5:154297539 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.3844T>C (p.Tyr1282His) single nucleotide variant Inborn genetic diseases [RCV002661943] Chr5:154891659 [GRCh38]
Chr5:154271219 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.1527G>C (p.Gln509His) single nucleotide variant Inborn genetic diseases [RCV002869684] Chr5:154920039 [GRCh38]
Chr5:154299599 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.4118C>T (p.Thr1373Ile) single nucleotide variant Inborn genetic diseases [RCV002694020] Chr5:154891385 [GRCh38]
Chr5:154270945 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.3232G>A (p.Val1078Ile) single nucleotide variant Inborn genetic diseases [RCV002781968] Chr5:154898553 [GRCh38]
Chr5:154278113 [GRCh37]
Chr5:5q33.2		 likely benign
NM_015465.5(GEMIN5):c.3449C>G (p.Thr1150Arg) single nucleotide variant Inborn genetic diseases [RCV002758039] Chr5:154896240 [GRCh38]
Chr5:154275800 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.4352G>A (p.Ser1451Asn) single nucleotide variant Inborn genetic diseases [RCV002757655] Chr5:154889328 [GRCh38]
Chr5:154268888 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.2359C>T (p.Arg787Trp) single nucleotide variant Inborn genetic diseases [RCV002694649] Chr5:154907627 [GRCh38]
Chr5:154287187 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.3302G>T (p.Trp1101Leu) single nucleotide variant Inborn genetic diseases [RCV002869357] Chr5:154898483 [GRCh38]
Chr5:154278043 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.2360G>A (p.Arg787Gln) single nucleotide variant Inborn genetic diseases [RCV003001344] Chr5:154907626 [GRCh38]
Chr5:154287186 [GRCh37]
Chr5:5q33.2		 likely benign
NM_015465.5(GEMIN5):c.2900C>G (p.Ala967Gly) single nucleotide variant Inborn genetic diseases [RCV002738519] Chr5:154901453 [GRCh38]
Chr5:154281013 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.4076T>A (p.Leu1359His) single nucleotide variant Inborn genetic diseases [RCV002692823]|not provided [RCV004775339] Chr5:154891427 [GRCh38]
Chr5:154270987 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.1247A>G (p.Tyr416Cys) single nucleotide variant Inborn genetic diseases [RCV002911419] Chr5:154925908 [GRCh38]
Chr5:154305468 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.1856-3T>C single nucleotide variant Inborn genetic diseases [RCV002869088] Chr5:154913041 [GRCh38]
Chr5:154292601 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.119del (p.Arg40fs) deletion Inborn genetic diseases [RCV002854228] Chr5:154938015 [GRCh38]
Chr5:154317575 [GRCh37]
Chr5:5q33.2		 pathogenic
NM_015465.5(GEMIN5):c.1322G>T (p.Cys441Phe) single nucleotide variant Inborn genetic diseases [RCV002850622] Chr5:154924526 [GRCh38]
Chr5:154304086 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.2909A>G (p.Lys970Arg) single nucleotide variant Inborn genetic diseases [RCV002768208] Chr5:154901444 [GRCh38]
Chr5:154281004 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.3127G>T (p.Ala1043Ser) single nucleotide variant Inborn genetic diseases [RCV002827508] Chr5:154899198 [GRCh38]
Chr5:154278758 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.4499G>A (p.Arg1500Lys) single nucleotide variant Inborn genetic diseases [RCV002666205] Chr5:154888238 [GRCh38]
Chr5:154267798 [GRCh37]
Chr5:5q33.2		 likely benign
NM_015465.5(GEMIN5):c.3766G>A (p.Asp1256Asn) single nucleotide variant GEMIN5-related disorder [RCV004550490]|Inborn genetic diseases [RCV002665266] Chr5:154891737 [GRCh38]
Chr5:154271297 [GRCh37]
Chr5:5q33.2		 likely benign
NM_015465.5(GEMIN5):c.3289C>G (p.Leu1097Val) single nucleotide variant Inborn genetic diseases [RCV002850793] Chr5:154898496 [GRCh38]
Chr5:154278056 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.1223A>G (p.Asn408Ser) single nucleotide variant Inborn genetic diseases [RCV002956773] Chr5:154925932 [GRCh38]
Chr5:154305492 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.2581G>C (p.Glu861Gln) single nucleotide variant Inborn genetic diseases [RCV002987208] Chr5:154904558 [GRCh38]
Chr5:154284118 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.3310G>T (p.Ala1104Ser) single nucleotide variant Inborn genetic diseases [RCV003003729] Chr5:154898475 [GRCh38]
Chr5:154278035 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.4162C>T (p.His1388Tyr) single nucleotide variant Inborn genetic diseases [RCV002892191] Chr5:154891341 [GRCh38]
Chr5:154270901 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.2138C>G (p.Ser713Cys) single nucleotide variant Inborn genetic diseases [RCV002939537] Chr5:154911756 [GRCh38]
Chr5:154291316 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.2536C>T (p.Arg846Cys) single nucleotide variant Inborn genetic diseases [RCV002678158] Chr5:154904603 [GRCh38]
Chr5:154284163 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.499G>C (p.Val167Leu) single nucleotide variant Inborn genetic diseases [RCV002679343] Chr5:154935851 [GRCh38]
Chr5:154315411 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.2705T>A (p.Leu902Gln) single nucleotide variant Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction [RCV004795704] Chr5:154903103 [GRCh38]
Chr5:154282663 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.3931dup (p.Ser1311fs) duplication Inborn genetic diseases [RCV003207284] Chr5:154891571..154891572 [GRCh38]
Chr5:154271131..154271132 [GRCh37]
Chr5:5q33.2		 pathogenic
NM_015465.5(GEMIN5):c.2096A>T (p.Tyr699Phe) single nucleotide variant Inborn genetic diseases [RCV003213301] Chr5:154911798 [GRCh38]
Chr5:154291358 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.2016A>C (p.Glu672Asp) single nucleotide variant Inborn genetic diseases [RCV003201280] Chr5:154911878 [GRCh38]
Chr5:154291438 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.2107G>C (p.Asp703His) single nucleotide variant Inborn genetic diseases [RCV003200565] Chr5:154911787 [GRCh38]
Chr5:154291347 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.3380T>C (p.Leu1127Pro) single nucleotide variant Inborn genetic diseases [RCV003215098]|Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction [RCV004796784] Chr5:154896309 [GRCh38]
Chr5:154275869 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.61G>A (p.Asp21Asn) single nucleotide variant Inborn genetic diseases [RCV003206419] Chr5:154938073 [GRCh38]
Chr5:154317633 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.2019_2020delinsTT (p.Glu673_Pro674delinsAspSer) indel Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction [RCV003135357] Chr5:154911874..154911875 [GRCh38]
Chr5:154291434..154291435 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.4496dup (p.Tyr1499Ter) duplication Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction [RCV003135358] Chr5:154888240..154888241 [GRCh38]
Chr5:154267800..154267801 [GRCh37]
Chr5:5q33.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_015465.5(GEMIN5):c.3094G>A (p.Val1032Ile) single nucleotide variant Inborn genetic diseases [RCV003184150] Chr5:154899231 [GRCh38]
Chr5:154278791 [GRCh37]
Chr5:5q33.2		 likely benign
NM_015465.5(GEMIN5):c.2851G>A (p.Ala951Thr) single nucleotide variant Inborn genetic diseases [RCV003206370] Chr5:154902554 [GRCh38]
Chr5:154282114 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.34C>A (p.Pro12Thr) single nucleotide variant Inborn genetic diseases [RCV003193885] Chr5:154938100 [GRCh38]
Chr5:154317660 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.4316C>T (p.Thr1439Ile) single nucleotide variant not provided [RCV003323179] Chr5:154889364 [GRCh38]
Chr5:154268924 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.157C>T (p.Pro53Ser) single nucleotide variant not provided [RCV003323213] Chr5:154937977 [GRCh38]
Chr5:154317537 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.3337A>G (p.Ser1113Gly) single nucleotide variant not provided [RCV003319004]|not specified [RCV003388222] Chr5:154898448 [GRCh38]
Chr5:154278008 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.2883G>A (p.Trp961Ter) single nucleotide variant Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction [RCV003340865] Chr5:154901470 [GRCh38]
Chr5:154281030 [GRCh37]
Chr5:5q33.2		 likely pathogenic
NM_015465.5(GEMIN5):c.1919C>T (p.Ala640Val) single nucleotide variant Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction [RCV003340866] Chr5:154912975 [GRCh38]
Chr5:154292535 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.4480G>A (p.Gly1494Ser) single nucleotide variant Inborn genetic diseases [RCV003341347] Chr5:154888257 [GRCh38]
Chr5:154267817 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.1087T>C (p.Cys363Arg) single nucleotide variant Inborn genetic diseases [RCV003357285] Chr5:154926068 [GRCh38]
Chr5:154305628 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.3110G>A (p.Gly1037Asp) single nucleotide variant Inborn genetic diseases [RCV003358785] Chr5:154899215 [GRCh38]
Chr5:154278775 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.2225A>G (p.Lys742Arg) single nucleotide variant Inborn genetic diseases [RCV003383044]|not provided [RCV004818333] Chr5:154907761 [GRCh38]
Chr5:154287321 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.620C>T (p.Pro207Leu) single nucleotide variant Inborn genetic diseases [RCV003373844] Chr5:154932140 [GRCh38]
Chr5:154311700 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.1230C>A (p.Leu410=) single nucleotide variant not provided [RCV003457450] Chr5:154925925 [GRCh38]
Chr5:154305485 [GRCh37]
Chr5:5q33.2		 likely benign
NM_015465.5(GEMIN5):c.1556C>G (p.Ala519Gly) single nucleotide variant Inborn genetic diseases [RCV003370551] Chr5:154920010 [GRCh38]
Chr5:154299570 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.343T>G (p.Leu115Val) single nucleotide variant Inborn genetic diseases [RCV003369030] Chr5:154936007 [GRCh38]
Chr5:154315567 [GRCh37]
Chr5:5q33.2		 uncertain significance
GRCh37/hg19 5q33.2(chr5:154312033-154394810)x1 copy number loss not provided [RCV003485489] Chr5:154312033..154394810 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.3308G>A (p.Gly1103Glu) single nucleotide variant not provided [RCV003429937] Chr5:154898477 [GRCh38]
Chr5:154278037 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.3146C>G (p.Ala1049Gly) single nucleotide variant Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction [RCV003445342] Chr5:154898639 [GRCh38]
Chr5:154278199 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.1045A>T (p.Lys349Ter) single nucleotide variant not provided [RCV003429939] Chr5:154927420 [GRCh38]
Chr5:154306980 [GRCh37]
Chr5:5q33.2		 pathogenic
NM_015465.5(GEMIN5):c.1781C>G (p.Pro594Arg) single nucleotide variant not provided [RCV003429938] Chr5:154917072 [GRCh38]
Chr5:154296632 [GRCh37]
Chr5:5q33.2		 likely benign
NM_015465.5(GEMIN5):c.1802C>T (p.Ala601Val) single nucleotide variant GEMIN5-related disorder [RCV004548623]|not specified [RCV003388439] Chr5:154917051 [GRCh38]
Chr5:154296611 [GRCh37]
Chr5:5q33.2		 likely benign|uncertain significance
NM_015465.5(GEMIN5):c.4246A>C (p.Ser1416Arg) single nucleotide variant not provided [RCV003429936] Chr5:154891257 [GRCh38]
Chr5:154270817 [GRCh37]
Chr5:5q33.2		 likely benign
NM_015465.5(GEMIN5):c.3153_3160dup (p.Asp1054fs) duplication GEMIN5-related disorder [RCV004550633] Chr5:154898624..154898625 [GRCh38]
Chr5:154278184..154278185 [GRCh37]
Chr5:5q33.2		 likely pathogenic
NM_015465.5(GEMIN5):c.4428C>G (p.Gly1476=) single nucleotide variant not provided [RCV003429935] Chr5:154888309 [GRCh38]
Chr5:154267869 [GRCh37]
Chr5:5q33.2		 likely benign
NM_015465.5(GEMIN5):c.4100T>C (p.Leu1367Pro) single nucleotide variant GEMIN5-related disorder [RCV004550719] Chr5:154891403 [GRCh38]
Chr5:154270963 [GRCh37]
Chr5:5q33.2		 likely pathogenic
NM_015465.5(GEMIN5):c.4263-4C>G single nucleotide variant Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction [RCV003493007] Chr5:154889421 [GRCh38]
Chr5:154268981 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.3016G>A (p.Glu1006Lys) single nucleotide variant not specified [RCV004526543] Chr5:154899309 [GRCh38]
Chr5:154278869 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.2867-9T>G single nucleotide variant not specified [RCV004527269] Chr5:154901495 [GRCh38]
Chr5:154281055 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.262G>A (p.Asp88Asn) single nucleotide variant not provided [RCV004554979] Chr5:154937090 [GRCh38]
Chr5:154316650 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.1135G>C (p.Gly379Arg) single nucleotide variant GEMIN5-related disorder [RCV004552839] Chr5:154926020 [GRCh38]
Chr5:154305580 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.2080G>C (p.Asp694His) single nucleotide variant Inborn genetic diseases [RCV004387718] Chr5:154911814 [GRCh38]
Chr5:154291374 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.2687T>A (p.Phe896Tyr) single nucleotide variant Inborn genetic diseases [RCV004387727] Chr5:154903121 [GRCh38]
Chr5:154282681 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.3449C>T (p.Thr1150Met) single nucleotide variant Inborn genetic diseases [RCV004387732] Chr5:154896240 [GRCh38]
Chr5:154275800 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.784G>T (p.Val262Leu) single nucleotide variant Inborn genetic diseases [RCV004387737] Chr5:154928657 [GRCh38]
Chr5:154308217 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.565C>A (p.His189Asn) single nucleotide variant Inborn genetic diseases [RCV004387736] Chr5:154932195 [GRCh38]
Chr5:154311755 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.2180T>C (p.Ile727Thr) single nucleotide variant Inborn genetic diseases [RCV004387723] Chr5:154907806 [GRCh38]
Chr5:154287366 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.25C>A (p.Pro9Thr) single nucleotide variant Inborn genetic diseases [RCV004387725] Chr5:154938109 [GRCh38]
Chr5:154317669 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.2156G>A (p.Arg719Gln) single nucleotide variant Inborn genetic diseases [RCV004387722] Chr5:154911738 [GRCh38]
Chr5:154291298 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.239A>T (p.Asn80Ile) single nucleotide variant Inborn genetic diseases [RCV004387724] Chr5:154937113 [GRCh38]
Chr5:154316673 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.2710A>G (p.Arg904Gly) single nucleotide variant Inborn genetic diseases [RCV004387728] Chr5:154903098 [GRCh38]
Chr5:154282658 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.4431T>G (p.Cys1477Trp) single nucleotide variant Inborn genetic diseases [RCV004387735] Chr5:154888306 [GRCh38]
Chr5:154267866 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.2115T>G (p.Phe705Leu) single nucleotide variant Inborn genetic diseases [RCV004387721] Chr5:154911779 [GRCh38]
Chr5:154291339 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.2677C>A (p.Leu893Met) single nucleotide variant Inborn genetic diseases [RCV004387726] Chr5:154903131 [GRCh38]
Chr5:154282691 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.29C>T (p.Pro10Leu) single nucleotide variant Inborn genetic diseases [RCV004387729] Chr5:154938105 [GRCh38]
Chr5:154317665 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.3340C>G (p.Leu1114Val) single nucleotide variant Inborn genetic diseases [RCV004387730] Chr5:154898445 [GRCh38]
Chr5:154278005 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.359G>A (p.Arg120Gln) single nucleotide variant Inborn genetic diseases [RCV004387733] Chr5:154935991 [GRCh38]
Chr5:154315551 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.4396G>A (p.Val1466Ile) single nucleotide variant Inborn genetic diseases [RCV004387734] Chr5:154888341 [GRCh38]
Chr5:154267901 [GRCh37]
Chr5:5q33.2		 likely benign
NM_015465.5(GEMIN5):c.884A>G (p.Gln295Arg) single nucleotide variant Inborn genetic diseases [RCV004387738] Chr5:154928557 [GRCh38]
Chr5:154308117 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.1181C>T (p.Ser394Phe) single nucleotide variant Inborn genetic diseases [RCV004387712] Chr5:154925974 [GRCh38]
Chr5:154305534 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.1639G>T (p.Asp547Tyr) single nucleotide variant Inborn genetic diseases [RCV004387714] Chr5:154917965 [GRCh38]
Chr5:154297525 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.1817A>G (p.Asn606Ser) single nucleotide variant Inborn genetic diseases [RCV004387715] Chr5:154917036 [GRCh38]
Chr5:154296596 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.1895A>G (p.Tyr632Cys) single nucleotide variant Inborn genetic diseases [RCV004387717] Chr5:154912999 [GRCh38]
Chr5:154292559 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.2096A>G (p.Tyr699Cys) single nucleotide variant Inborn genetic diseases [RCV004387719] Chr5:154911798 [GRCh38]
Chr5:154291358 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.4349A>G (p.Glu1450Gly) single nucleotide variant not provided [RCV004697644] Chr5:154889331 [GRCh38]
Chr5:154268891 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.3071A>G (p.Asp1024Gly) single nucleotide variant not provided [RCV004697645] Chr5:154899254 [GRCh38]
Chr5:154278814 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.125G>A (p.Gly42Asp) single nucleotide variant Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction [RCV004595173] Chr5:154938009 [GRCh38]
Chr5:154317569 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.2366C>G (p.Pro789Arg) single nucleotide variant Inborn genetic diseases [RCV004626897] Chr5:154907620 [GRCh38]
Chr5:154287180 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.139G>C (p.Glu47Gln) single nucleotide variant Inborn genetic diseases [RCV004626900] Chr5:154937995 [GRCh38]
Chr5:154317555 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.130G>T (p.Gly44Cys) single nucleotide variant Inborn genetic diseases [RCV004626901] Chr5:154938004 [GRCh38]
Chr5:154317564 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.2735G>A (p.Gly912Asp) single nucleotide variant Inborn genetic diseases [RCV004626902] Chr5:154902670 [GRCh38]
Chr5:154282230 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.686A>C (p.Asn229Thr) single nucleotide variant Inborn genetic diseases [RCV004626903] Chr5:154931553 [GRCh38]
Chr5:154311113 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.1555G>A (p.Ala519Thr) single nucleotide variant Inborn genetic diseases [RCV004626904] Chr5:154920011 [GRCh38]
Chr5:154299571 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.452C>T (p.Pro151Leu) single nucleotide variant Inborn genetic diseases [RCV004626905] Chr5:154935898 [GRCh38]
Chr5:154315458 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.1586C>T (p.Thr529Ile) single nucleotide variant Inborn genetic diseases [RCV004626906] Chr5:154919980 [GRCh38]
Chr5:154299540 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.1210A>T (p.Ile404Phe) single nucleotide variant Inborn genetic diseases [RCV004626907] Chr5:154925945 [GRCh38]
Chr5:154305505 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.2845C>G (p.Leu949Val) single nucleotide variant Inborn genetic diseases [RCV004626910] Chr5:154902560 [GRCh38]
Chr5:154282120 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.2275G>C (p.Asp759His) single nucleotide variant Inborn genetic diseases [RCV004626911] Chr5:154907711 [GRCh38]
Chr5:154287271 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.3469G>A (p.Val1157Met) single nucleotide variant Inborn genetic diseases [RCV004623870]|not provided [RCV004818792] Chr5:154896220 [GRCh38]
Chr5:154275780 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.1273G>A (p.Val425Met) single nucleotide variant Inborn genetic diseases [RCV004626898] Chr5:154925882 [GRCh38]
Chr5:154305442 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.1063A>G (p.Thr355Ala) single nucleotide variant Inborn genetic diseases [RCV004626899] Chr5:154927402 [GRCh38]
Chr5:154306962 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.987A>G (p.Glu329=) single nucleotide variant not provided [RCV004811839] Chr5:154927478 [GRCh38]
Chr5:154307038 [GRCh37]
Chr5:5q33.2		 likely benign
NM_015465.5(GEMIN5):c.3166G>T (p.Ala1056Ser) single nucleotide variant not provided [RCV004771155] Chr5:154898619 [GRCh38]
Chr5:154278179 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.2681G>T (p.Gly894Val) single nucleotide variant not provided [RCV004771156] Chr5:154903127 [GRCh38]
Chr5:154282687 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.1718C>G (p.Thr573Ser) single nucleotide variant not provided [RCV004781316] Chr5:154917135 [GRCh38]
Chr5:154296695 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.3214G>A (p.Ala1072Thr) single nucleotide variant not provided [RCV004781317] Chr5:154898571 [GRCh38]
Chr5:154278131 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.76G>A (p.Gly26Ser) single nucleotide variant Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction [RCV004764500] Chr5:154938058 [GRCh38]
Chr5:154317618 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.3013A>T (p.Arg1005Trp) single nucleotide variant not provided [RCV004769146] Chr5:154901340 [GRCh38]
Chr5:154280900 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.614C>T (p.Pro205Leu) single nucleotide variant not provided [RCV004769147] Chr5:154932146 [GRCh38]
Chr5:154311706 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.2662G>A (p.Glu888Lys) single nucleotide variant Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction [RCV004771615] Chr5:154903146 [GRCh38]
Chr5:154282706 [GRCh37]
Chr5:5q33.2		 uncertain significance
NM_015465.5(GEMIN5):c.1856del (p.Glu619fs) deletion not provided [RCV004719516] Chr5:154913038 [GRCh38]
Chr5:154292598 [GRCh37]
Chr5:5q33.2		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:496
Count of miRNA genes:433
Interacting mature miRNAs:462
Transcripts:ENST00000285873, ENST00000522075, ENST00000523355
Prediction methods: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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407099778GWAS748754_Hmean corpuscular hemoglobin QTL GWAS748754 (human)2e-14mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)5154908369154908370Human
597310767GWAS1406841_Hvaginal microbiome measurement QTL GWAS1406841 (human)0.000008vaginal microbiome measurement5154892388154892389Human
407055929GWAS704905_Hvenous thromboembolism QTL GWAS704905 (human)0.000009venous thromboembolism5154898591154898592Human
597312949GWAS1409023_Hvaginal microbiome measurement QTL GWAS1409023 (human)0.000005vaginal microbiome measurement5154892388154892389Human

Markers in Region
L31480  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375154,267,017 - 154,267,143UniSTSGRCh37
Build 365154,247,210 - 154,247,336RGDNCBI36
Celera5150,343,954 - 150,344,080RGD
Cytogenetic Map5q33.2UniSTS
HuRef5149,408,868 - 149,408,994UniSTS
RH102803  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375154,267,062 - 154,267,238UniSTSGRCh37
Build 365154,247,255 - 154,247,431RGDNCBI36
Celera5150,343,999 - 150,344,175RGD
Cytogenetic Map5q33.2UniSTS
HuRef5149,408,913 - 149,409,089UniSTS
GeneMap99-GB4 RH Map5586.8UniSTS
SHGC-133084  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375154,270,771 - 154,270,911UniSTSGRCh37
Build 365154,250,964 - 154,251,104RGDNCBI36
Celera5150,347,714 - 150,347,854RGD
Cytogenetic Map5q33.2UniSTS
HuRef5149,412,629 - 149,412,769UniSTS
TNG Radiation Hybrid Map572106.0UniSTS
RH47000  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372222,198,613 - 22,198,794UniSTSGRCh37
Build 362220,528,613 - 20,528,794RGDNCBI36
Celera5150,346,451 - 150,346,600RGD
Celera226,016,159 - 6,016,340UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map5q33.2UniSTS
HuRef225,156,256 - 5,156,437UniSTS
GeneMap99-GB4 RH Map2237.17UniSTS
SHGC-64126  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375154,270,809 - 154,270,925UniSTSGRCh37
Build 365154,251,002 - 154,251,118RGDNCBI36
Celera5150,347,752 - 150,347,868RGD
Cytogenetic Map5q33.2UniSTS
HuRef5149,412,667 - 149,412,783UniSTS


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_052854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001252156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC008421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL117665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY063750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX329222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA328736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA400244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF584014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000285873   ⟹   ENSP00000285873
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5154,887,411 - 154,938,211 (-)Ensembl
Ensembl Acc Id: ENST00000522075
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5154,891,434 - 154,892,650 (-)Ensembl
Ensembl Acc Id: ENST00000523355
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5154,927,386 - 154,931,716 (-)Ensembl
RefSeq Acc Id: NM_001252156   ⟹   NP_001239085
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385154,887,411 - 154,938,211 (-)NCBI
GRCh375154,266,976 - 154,317,776 (-)NCBI
HuRef5149,408,827 - 149,459,559 (-)NCBI
CHM1_15153,699,395 - 153,750,170 (-)NCBI
T2T-CHM13v2.05155,421,376 - 155,472,109 (-)NCBI
Sequence:
RefSeq Acc Id: NM_015465   ⟹   NP_056280
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385154,887,411 - 154,938,211 (-)NCBI
GRCh375154,266,976 - 154,317,776 (-)ENTREZGENE
Build 365154,247,169 - 154,297,964 (-)NCBI Archive
HuRef5149,408,827 - 149,459,559 (-)ENTREZGENE
CHM1_15153,699,395 - 153,750,170 (-)NCBI
T2T-CHM13v2.05155,421,376 - 155,472,109 (-)NCBI
Sequence:
RefSeq Acc Id: NP_056280   ⟸   NM_015465
- Peptide Label: isoform 1
- UniProtKB: Q8TEQ6 (UniProtKB/Swiss-Prot),   Q9H9K3 (UniProtKB/Swiss-Prot),   Q969W4 (UniProtKB/Swiss-Prot),   Q8WWV4 (UniProtKB/Swiss-Prot),   Q14CV0 (UniProtKB/Swiss-Prot),   Q9UFI5 (UniProtKB/Swiss-Prot),   B7ZLC9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001239085   ⟸   NM_001252156
- Peptide Label: isoform 2
- UniProtKB: B7ZLC9 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000285873   ⟸   ENST00000285873
Protein Domains
Anaphase-promoting complex subunit 4-like WD40

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8TEQ6-F1-model_v2 AlphaFold Q8TEQ6 1-1508 view protein structure

Promoters
RGD ID:6803220
Promoter ID:HG_KWN:51616
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_015465
Position:
Human AssemblyChrPosition (strand)Source
Build 365154,297,736 - 154,298,236 (-)MPROMDB
RGD ID:6871372
Promoter ID:EPDNEW_H8851
Type:initiation region
Name:GEMIN5_1
Description:gem nuclear organelle associated protein 5
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
GRCh385154,938,199 - 154,938,259EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20043 AgrOrtholog
COSMIC GEMIN5 COSMIC
Ensembl Genes ENSG00000082516 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000285873 ENTREZGENE
  ENST00000285873.8 UniProtKB/Swiss-Prot
Gene3D-CATH 2.130.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000082516 GTEx
HGNC ID HGNC:20043 ENTREZGENE
Human Proteome Map GEMIN5 Human Proteome Map
InterPro Apc4_WD40_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  G-protein_beta_WD-40_rep UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Quinoprotein_ADH-like_supfam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40/YVTN_repeat-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD_repeat_Gemin-5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:25929 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 25929 ENTREZGENE
OMIM 607005 OMIM
PANTHER GEM-ASSOCIATED PROTEIN 5 UniProtKB/Swiss-Prot
  GEM-ASSOCIATED PROTEIN 5 UniProtKB/Swiss-Prot
  GEM-ASSOCIATED PROTEIN 5 UniProtKB/TrEMBL
  GEM-ASSOCIATED PROTEIN 5 UniProtKB/TrEMBL
Pfam ANAPC4_WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MIOS_WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134945791 PharmGKB
PRINTS GPROTEINBRPT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE WD_REPEATS_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD_REPEATS_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD_REPEATS_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50978 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50998 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B7ZLC9 ENTREZGENE, UniProtKB/TrEMBL
  GEMI5_HUMAN UniProtKB/Swiss-Prot
  L8E9U3_HUMAN UniProtKB/TrEMBL
  L8ECG2_HUMAN UniProtKB/TrEMBL
  Q14CV0 ENTREZGENE
  Q58EZ8_HUMAN UniProtKB/TrEMBL
  Q8TEQ6 ENTREZGENE
  Q8WWV4 ENTREZGENE
  Q969W4 ENTREZGENE
  Q9H9K3 ENTREZGENE
  Q9UFI5 ENTREZGENE
UniProt Secondary Q14CV0 UniProtKB/Swiss-Prot
  Q8WWV4 UniProtKB/Swiss-Prot
  Q969W4 UniProtKB/Swiss-Prot
  Q9H9K3 UniProtKB/Swiss-Prot
  Q9UFI5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-10 GEMIN5  gem nuclear organelle associated protein 5    gem (nuclear organelle) associated protein 5  Symbol and/or name change 5135510 APPROVED