RAB3GAP2 (RAB3 GTPase activating non-catalytic protein subunit 2) - Rat Genome Database

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Gene: RAB3GAP2 (RAB3 GTPase activating non-catalytic protein subunit 2) Homo sapiens
Analyze
Symbol: RAB3GAP2
Name: RAB3 GTPase activating non-catalytic protein subunit 2
RGD ID: 1604372
HGNC Page HGNC
Description: Enables small GTPase binding activity. Contributes to guanyl-nucleotide exchange factor activity. Involved in establishment of protein localization to endoplasmic reticulum membrane; positive regulation of organelle organization; and positive regulation of protein lipidation. Located in cytosol and plasma membrane. Part of protein-containing complex. Implicated in Martsolf syndrome and Warburg micro syndrome 2.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DKFZp434D245; FLJ14579; KIAA0839; MARTS1; p150; RAB3 GTPase activating protein subunit 2 (non-catalytic); rab3 GTPase-activating protein 150 kDa subunit; rab3 GTPase-activating protein non-catalytic subunit; rab3-GAP p150; rab3-GAP regulatory subunit; RAB3-GAP150; RAB3GAP150; RGAP-iso; RP11-568G11.1; SPG69; WARBM2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1220,148,293 - 220,272,529 (-)EnsemblGRCh38hg38GRCh38
GRCh381220,148,293 - 220,272,453 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371220,321,635 - 220,445,795 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361218,390,350 - 218,512,375 (-)NCBINCBI36hg18NCBI36
Celera1193,540,819 - 193,665,052 (-)NCBI
Cytogenetic Map1q41NCBI
HuRef1190,996,031 - 191,120,274 (-)NCBIHuRef
CHM1_11221,594,098 - 221,718,321 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal dermatoglyphics  (IAGP)
Abnormal distal phalanx morphology of finger  (IAGP)
Abnormal localization of kidney  (IAGP)
Abnormal myelination  (IAGP)
Abnormal toenail morphology  (IAGP)
Abnormality of retinal pigmentation  (IAGP)
Abnormality of the antihelix  (IAGP)
Abnormality of visual evoked potentials  (IAGP)
Absent speech  (IAGP)
Agenesis of corpus callosum  (IAGP)
Anteverted nares  (IAGP)
Aplasia/Hypoplasia of the cerebellar vermis  (IAGP)
Aplasia/Hypoplasia of the corpus callosum  (IAGP)
Asymmetry of the ears  (IAGP)
Autosomal recessive inheritance  (IAGP)
Brachycephaly  (IAGP)
Broad fingertip  (IAGP)
Broad nasal tip  (IAGP)
Cardiac arrest  (IAGP)
Cardiomyopathy  (IAGP)
Cataract  (IAGP)
Cerebellar vermis hypoplasia  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cerebral visual impairment  (IAGP)
Clitoral hypoplasia  (IAGP)
Congestive heart failure  (IAGP)
Cryptorchidism  (IAGP)
Delayed ability to sit  (IAGP)
Delayed puberty  (IAGP)
Depressed nasal bridge  (IAGP)
Developmental cataract  (IAGP)
Downslanted palpebral fissures  (IAGP)
Epicanthus  (IAGP)
Everted lower lip vermilion  (IAGP)
Feeding difficulties in infancy  (IAGP)
Flexion contracture  (IAGP)
Furrowed tongue  (IAGP)
Gastrointestinal stroma tumor  (IAGP)
Generalized hirsutism  (IAGP)
Global brain atrophy  (IAGP)
Global developmental delay  (IAGP)
Hand tremor  (IAGP)
Hearing impairment  (IAGP)
High palate  (IAGP)
Hydronephrosis  (IAGP)
Hyperlordosis  (IAGP)
Hypogonadotropic hypogonadism  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypoplasia of the maxilla  (IAGP)
Hypoplastic labia majora  (IAGP)
Hypoplastic labia minora  (IAGP)
Hypotelorism  (IAGP)
Hypotonia  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Intellectual disability, progressive  (IAGP)
Intellectual disability, severe  (IAGP)
Intrauterine growth retardation  (IAGP)
Joint laxity  (IAGP)
Joint stiffness  (IAGP)
Kyphosis  (IAGP)
Low anterior hairline  (IAGP)
Low posterior hairline  (IAGP)
Low-set, posteriorly rotated ears  (IAGP)
Lumbar hyperlordosis  (IAGP)
Macrotia  (IAGP)
Malar flattening  (IAGP)
Metatarsus adductus  (IAGP)
Microcephaly  (IAGP)
Microcornea  (IAGP)
Micrognathia  (IAGP)
Micropenis  (IAGP)
Microphthalmia  (IAGP)
Midface retrusion  (IAGP)
Muscular hypotonia of the trunk  (IAGP)
Neurodevelopmental delay  (IAGP)
Optic atrophy  (IAGP)
Overlapping toe  (IAGP)
Pachygyria  (IAGP)
Parathyroid carcinoma  (IAGP)
Pectus carinatum  (IAGP)
Pectus excavatum  (IAGP)
Peripheral neuropathy  (IAGP)
Polymicrogyria  (IAGP)
Posteriorly rotated ears  (IAGP)
Postnatal growth retardation  (IAGP)
Prematurely aged appearance  (IAGP)
Progressive spastic paraplegia  (IAGP)
Prominent antitragus  (IAGP)
Prominent nasal bridge  (IAGP)
Prominent nipples  (IAGP)
Recurrent respiratory infections  (IAGP)
Retinal coloboma  (IAGP)
Scoliosis  (IAGP)
Scrotal hypoplasia  (IAGP)
Secondary microcephaly  (IAGP)
Seizure  (IAGP)
Severe global developmental delay  (IAGP)
Short metacarpal  (IAGP)
Short nose  (IAGP)
Short palm  (IAGP)
Short phalanx of finger  (IAGP)
Short philtrum  (IAGP)
Short stature  (IAGP)
Short toe  (IAGP)
Slender ulna  (IAGP)
Spastic diplegia  (IAGP)
Spastic dysarthria  (IAGP)
Spasticity  (IAGP)
Talipes equinovarus  (IAGP)
Talipes valgus  (IAGP)
Tooth malposition  (IAGP)
Tracheoesophageal fistula  (IAGP)
Tracheomalacia  (IAGP)
Ulnar deviation of finger  (IAGP)
Undetectable visual evoked potentials  (IAGP)
Wide nasal bridge  (IAGP)
References

Additional References at PubMed
PMID:8889549   PMID:9733780   PMID:10048485   PMID:12168954   PMID:12477932   PMID:14702039   PMID:15231747   PMID:15696165   PMID:16344560   PMID:16484223   PMID:16532399   PMID:16710414  
PMID:17353931   PMID:18029348   PMID:18485483   PMID:18849981   PMID:19380743   PMID:20562859   PMID:20967465   PMID:21873635   PMID:22337587   PMID:22863883   PMID:22939629   PMID:22990118  
PMID:23176487   PMID:23383273   PMID:23420520   PMID:24482476   PMID:24885147   PMID:24891604   PMID:25495476   PMID:25921289   PMID:26186194   PMID:26344197   PMID:26618866   PMID:28342870  
PMID:28378594   PMID:28514442   PMID:28575017   PMID:29117863   PMID:29300443   PMID:29395067   PMID:29419336   PMID:29568061   PMID:29955894   PMID:29987050   PMID:30021884   PMID:30948266  
PMID:31006538   PMID:31056421   PMID:31073040   PMID:31091453   PMID:31177093   PMID:32248620   PMID:32376645   PMID:32513696   PMID:32694731   PMID:32740904   PMID:32877691   PMID:33187986  
PMID:33957083   PMID:33961781   PMID:34079125   PMID:34709727  


Genomics

Comparative Map Data
RAB3GAP2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1220,148,293 - 220,272,529 (-)EnsemblGRCh38hg38GRCh38
GRCh381220,148,293 - 220,272,453 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371220,321,635 - 220,445,795 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361218,390,350 - 218,512,375 (-)NCBINCBI36hg18NCBI36
Celera1193,540,819 - 193,665,052 (-)NCBI
Cytogenetic Map1q41NCBI
HuRef1190,996,031 - 191,120,274 (-)NCBIHuRef
CHM1_11221,594,098 - 221,718,321 (-)NCBICHM1_1
Rab3gap2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391184,936,287 - 185,018,958 (+)NCBIGRCm39mm39
GRCm39 Ensembl1184,936,314 - 185,018,956 (+)Ensembl
GRCm381185,204,088 - 185,286,756 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1185,204,117 - 185,286,759 (+)EnsemblGRCm38mm10GRCm38
MGSCv371187,028,047 - 187,110,625 (+)NCBIGRCm37mm9NCBIm37
Celera1192,159,446 - 192,244,162 (+)NCBICelera
Cytogenetic Map1H5NCBI
Rab3gap2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21396,757,430 - 96,828,930 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1396,757,460 - 96,829,478 (+)Ensembl
Rnor_6.013103,157,806 - 103,229,010 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl13103,157,806 - 103,228,423 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.013107,832,196 - 107,901,909 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.413101,280,421 - 101,289,503 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.113101,469,463 - 101,478,541 (+)NCBI
Celera1396,273,391 - 96,343,906 (+)NCBICelera
Cytogenetic Map13q26NCBI
Rab3gap2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555203,411,770 - 3,483,413 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555203,411,504 - 3,483,703 (+)NCBIChiLan1.0ChiLan1.0
RAB3GAP2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11200,757,097 - 200,878,799 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1200,757,097 - 200,878,819 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01195,720,895 - 195,842,619 (-)NCBIMhudiblu_PPA_v0panPan3
RAB3GAP2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13814,927,670 - 15,025,554 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3814,928,628 - 15,025,865 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3814,968,524 - 15,068,260 (-)NCBI
ROS_Cfam_1.03814,961,174 - 15,061,430 (-)NCBI
UMICH_Zoey_3.13814,971,503 - 15,071,123 (-)NCBI
UNSW_CanFamBas_1.03815,317,420 - 15,417,223 (-)NCBI
UU_Cfam_GSD_1.03815,605,648 - 15,706,129 (-)NCBI
Rab3gap2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934456,696,099 - 56,808,480 (+)NCBI
SpeTri2.0NW_0049366501,944,291 - 2,054,847 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RAB3GAP2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl109,734,767 - 9,828,345 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1109,734,766 - 9,828,330 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21011,839,363 - 11,933,077 (+)NCBISscrofa10.2Sscrofa10.2susScr3
RAB3GAP2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1259,293,791 - 9,411,950 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl259,293,838 - 9,415,319 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660559,595,754 - 9,714,799 (+)NCBIVero_WHO_p1.0
Rab3gap2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248353,764,480 - 3,826,271 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
SHGC-76387  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371220,326,539 - 220,326,658UniSTSGRCh37
Build 361218,393,162 - 218,393,281RGDNCBI36
Celera1193,545,748 - 193,545,867RGD
Cytogenetic Map1q41UniSTS
HuRef1191,000,960 - 191,001,079UniSTS
TNG Radiation Hybrid Map1109297.0UniSTS
GeneMap99-GB4 RH Map1707.33UniSTS
NCBI RH Map11906.5UniSTS
RH45736  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371220,323,320 - 220,323,481UniSTSGRCh37
Build 361218,389,943 - 218,390,104RGDNCBI36
Celera1193,542,529 - 193,542,690RGD
Cytogenetic Map1q41UniSTS
HuRef1190,997,741 - 190,997,902UniSTS
AL034046  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371220,368,544 - 220,368,715UniSTSGRCh37
Build 361218,435,167 - 218,435,338RGDNCBI36
Celera1193,587,755 - 193,587,926RGD
Cytogenetic Map1q41UniSTS
HuRef1191,042,967 - 191,043,138UniSTS
SHGC-111348  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371220,376,542 - 220,376,852UniSTSGRCh37
Build 361218,443,165 - 218,443,475RGDNCBI36
Celera1193,595,753 - 193,596,063RGD
Cytogenetic Map1q41UniSTS
HuRef1191,050,965 - 191,051,275UniSTS
TNG Radiation Hybrid Map1109386.0UniSTS
AL009641  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371220,355,011 - 220,355,133UniSTSGRCh37
Build 361218,421,634 - 218,421,756RGDNCBI36
Celera1193,574,222 - 193,574,344RGD
Cytogenetic Map1q41UniSTS
HuRef1191,029,434 - 191,029,556UniSTS
D1S3289  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371220,395,680 - 220,395,888UniSTSGRCh37
Build 361218,462,303 - 218,462,511RGDNCBI36
Celera1193,614,891 - 193,615,099RGD
Cytogenetic Map1q41UniSTS
HuRef1191,070,111 - 191,070,319UniSTS
Stanford-G3 RH Map18648.0UniSTS
NCBI RH Map11899.1UniSTS
GeneMap99-G3 RH Map18604.0UniSTS
PMC116076P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371220,427,294 - 220,427,675UniSTSGRCh37
Build 361218,493,917 - 218,494,298RGDNCBI36
Celera1193,646,505 - 193,646,886RGD
Cytogenetic Map15q24UniSTS
Cytogenetic Map1q41UniSTS
HuRef1191,101,725 - 191,102,106UniSTS
D1S3605  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371220,413,089 - 220,413,222UniSTSGRCh37
Build 361218,479,712 - 218,479,845RGDNCBI36
Celera1193,632,300 - 193,632,433RGD
Cytogenetic Map1q41UniSTS
HuRef1191,087,520 - 191,087,653UniSTS
TNG Radiation Hybrid Map1109407.0UniSTS
GeneMap99-GB4 RH Map1707.33UniSTS
NCBI RH Map11905.3UniSTS
SHGC-31919  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371220,321,235 - 220,321,375UniSTSGRCh37
Build 361218,387,858 - 218,387,998RGDNCBI36
Celera1193,540,444 - 193,540,584RGD
Cytogenetic Map1q41UniSTS
HuRef1190,995,656 - 190,995,796UniSTS
Stanford-G3 RH Map18805.0UniSTS
GeneMap99-GB4 RH Map1705.93UniSTS
GeneMap99-GB4 RH Map1707.33UniSTS
Whitehead-RH Map1849.0UniSTS
NCBI RH Map11926.3UniSTS
GeneMap99-G3 RH Map18761.0UniSTS
SHGC-23988  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371220,321,272 - 220,321,375UniSTSGRCh37
Build 361218,387,895 - 218,387,998RGDNCBI36
Celera1193,540,481 - 193,540,584RGD
Cytogenetic Map1q41UniSTS
HuRef1190,995,693 - 190,995,796UniSTS
TNG Radiation Hybrid Map1109284.0UniSTS
Stanford-G3 RH Map18790.0UniSTS
NCBI RH Map11899.1UniSTS
GeneMap99-G3 RH Map18746.0UniSTS
SHGC-24046  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371220,323,468 - 220,323,657UniSTSGRCh37
Build 361218,390,091 - 218,390,280RGDNCBI36
Celera1193,542,677 - 193,542,866RGD
Cytogenetic Map1q41UniSTS
HuRef1190,997,889 - 190,998,078UniSTS
GeneMap99-G3 RH Map18626.0UniSTS
A005E47  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371220,323,829 - 220,324,014UniSTSGRCh37
Build 361218,390,452 - 218,390,637RGDNCBI36
Celera1193,543,038 - 193,543,223RGD
Cytogenetic Map1q41UniSTS
HuRef1190,998,250 - 190,998,435UniSTS
GeneMap99-GB4 RH Map1706.42UniSTS
Whitehead-RH Map1872.6UniSTS
NCBI RH Map11926.3UniSTS
SHGC-76378  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371220,337,927 - 220,338,154UniSTSGRCh37
Build 361218,404,550 - 218,404,777RGDNCBI36
Celera1193,557,138 - 193,557,365RGD
Cytogenetic Map1q41UniSTS
HuRef1191,012,348 - 191,012,575UniSTS
TNG Radiation Hybrid Map1109290.0UniSTS
GeneMap99-GB4 RH Map1707.03UniSTS
Whitehead-RH Map1865.7UniSTS
NCBI RH Map11926.3UniSTS
SHGC-76386  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371220,421,969 - 220,422,216UniSTSGRCh37
Build 361218,488,592 - 218,488,839RGDNCBI36
Celera1193,641,180 - 193,641,427RGD
Cytogenetic Map1q41UniSTS
HuRef1191,096,400 - 191,096,647UniSTS
GeneMap99-GB4 RH Map1707.33UniSTS
NCBI RH Map11906.5UniSTS
SHGC-76377  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371220,323,948 - 220,324,075UniSTSGRCh37
Build 361218,390,571 - 218,390,698RGDNCBI36
Celera1193,543,157 - 193,543,284RGD
Cytogenetic Map1q41UniSTS
HuRef1190,998,369 - 190,998,496UniSTS
TNG Radiation Hybrid Map1109287.0UniSTS
GeneMap99-GB4 RH Map1707.33UniSTS
SHGC-53807  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371220,439,892 - 220,440,110UniSTSGRCh37
GRCh372054,945,058 - 54,945,278UniSTSGRCh37
Build 361218,506,515 - 218,506,733RGDNCBI36
Celera1193,659,101 - 193,659,319RGD
Celera2051,684,405 - 51,684,625UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map20q13UniSTS
HuRef1191,114,323 - 191,114,541UniSTS
HuRef2051,729,875 - 51,730,095UniSTS
RH69283  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q41UniSTS
HuRef1190,996,087 - 190,996,236UniSTS
GeneMap99-GB4 RH Map1707.33UniSTS
NCBI RH Map11905.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1524
Count of miRNA genes:883
Interacting mature miRNAs:1025
Transcripts:ENST00000237724, ENST00000358951, ENST00000462353, ENST00000474178, ENST00000474966, ENST00000475769, ENST00000478976, ENST00000484658, ENST00000491005, ENST00000491305
Prediction methods:Miranda, Rnahybrid, Targetscan
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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 792 1254 879 126 822 88 2367 416 1435 211 747 1269 52 757 1446 4
Low 1647 1703 847 498 1102 377 1989 1774 2296 208 713 344 123 1 447 1342 2 2
Below cutoff 33 27 6 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_015837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_012414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB020646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC103590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF004828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF255648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK021928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL117631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL445435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC098383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC131573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC146760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX483077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA379077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  N93244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000237724
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1220,196,184 - 220,272,414 (-)Ensembl
RefSeq Acc Id: ENST00000358951   ⟹   ENSP00000351832
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1220,148,293 - 220,272,453 (-)Ensembl
RefSeq Acc Id: ENST00000462353
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1220,265,985 - 220,272,361 (-)Ensembl
RefSeq Acc Id: ENST00000474178   ⟹   ENSP00000420156
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1220,205,907 - 220,272,370 (-)Ensembl
RefSeq Acc Id: ENST00000474966
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1220,151,256 - 220,153,722 (-)Ensembl
RefSeq Acc Id: ENST00000475769
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1220,219,435 - 220,272,337 (-)Ensembl
RefSeq Acc Id: ENST00000478976
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1220,185,655 - 220,272,430 (-)Ensembl
RefSeq Acc Id: ENST00000484658   ⟹   ENSP00000418560
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1220,202,276 - 220,211,377 (-)Ensembl
RefSeq Acc Id: ENST00000491005
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1220,151,183 - 220,154,060 (-)Ensembl
RefSeq Acc Id: ENST00000491305
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1220,151,605 - 220,154,428 (-)Ensembl
RefSeq Acc Id: NM_012414   ⟹   NP_036546
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381220,148,293 - 220,272,453 (-)NCBI
GRCh371220,321,610 - 220,445,843 (-)RGD
Build 361218,390,350 - 218,512,375 (-)NCBI Archive
Celera1193,540,819 - 193,665,052 (-)RGD
HuRef1190,996,031 - 191,120,274 (-)ENTREZGENE
CHM1_11221,594,098 - 221,718,321 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_036546   ⟸   NM_012414
- UniProtKB: Q9H2M9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000418560   ⟸   ENST00000484658
RefSeq Acc Id: ENSP00000420156   ⟸   ENST00000474178
RefSeq Acc Id: ENSP00000351832   ⟸   ENST00000358951
Protein Domains
RAB3GAP2_N

Promoters
RGD ID:6785875
Promoter ID:HG_KWN:7400
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:ENST00000237724,   NM_012414,   OTTHUMT00000090206,   OTTHUMT00000090752,   OTTHUMT00000098797,   UC001HME.1,   UC001HMF.1,   UC001HMG.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361218,512,149 - 218,512,649 (-)MPROMDB
RGD ID:6859026
Promoter ID:EPDNEW_H2677
Type:initiation region
Name:RAB3GAP2_1
Description:RAB3 GTPase activating non-catalytic protein subunit 2
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
GRCh381220,272,430 - 220,272,490EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_012414.4(RAB3GAP2):c.180T>A (p.Pro60=) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000551662] Chr1:220232799 [GRCh38]
Chr1:220406141 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.499_507del (p.Phe167_Thr169del) deletion Warburg micro syndrome 2 [RCV000023762] Chr1:220210804..220210812 [GRCh38]
Chr1:220384146..220384154 [GRCh37]
Chr1:1q41
pathogenic
NM_012414.4(RAB3GAP2):c.3154G>T (p.Gly1052Cys) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000001894] Chr1:220164733 [GRCh38]
Chr1:220338075 [GRCh37]
Chr1:1q41
pathogenic
NM_012414.4(RAB3GAP2):c.3155-136A>G single nucleotide variant not provided [RCV001544901] Chr1:220162404 [GRCh38]
Chr1:220335746 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.1131-4T>C single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000304830]|Warburg micro syndrome 2 [RCV000391817] Chr1:220193383 [GRCh38]
Chr1:220366725 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.1092A>G (p.Gln364=) single nucleotide variant not specified [RCV000602772] Chr1:220195116 [GRCh38]
Chr1:220368458 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.3805G>A (p.Val1269Ile) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000545500]|not provided [RCV001770428] Chr1:220153247 [GRCh38]
Chr1:220326589 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.812-6T>A single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000529126] Chr1:220196404 [GRCh38]
Chr1:220369746 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.310T>C (p.Trp104Arg) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000552194] Chr1:220212963 [GRCh38]
Chr1:220386305 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.3(RAB3GAP2):c.116-7981A>C single nucleotide variant Lung cancer [RCV000090527] Chr1:220240844 [GRCh38]
Chr1:220414186 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.3(RAB3GAP2):c.115+15209G>A single nucleotide variant Lung cancer [RCV000090528] Chr1:220257014 [GRCh38]
Chr1:220430356 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.1276C>T (p.Arg426Cys) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000087150]|Cataract-intellectual disability-hypogonadism syndrome [RCV000850507] Chr1:220191279 [GRCh38]
Chr1:220364621 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_012414.4(RAB3GAP2):c.1434G>A (p.Trp478Ter) single nucleotide variant Warburg micro syndrome 2 [RCV000087151] Chr1:220191121 [GRCh38]
Chr1:220364463 [GRCh37]
Chr1:1q41
pathogenic
NM_012414.4(RAB3GAP2):c.3637C>T (p.Arg1213Ter) single nucleotide variant Warburg micro syndrome 2 [RCV000087152]|not provided [RCV001781435] Chr1:220153976 [GRCh38]
Chr1:220327318 [GRCh37]
Chr1:1q41
pathogenic
NM_012414.4(RAB3GAP2):c.3085G>T (p.Glu1029Ter) single nucleotide variant Warburg micro syndrome 2 [RCV000087153] Chr1:220167295 [GRCh38]
Chr1:220340637 [GRCh37]
Chr1:1q41
pathogenic
GRCh38/hg38 1q41(chr1:215206760-222004068)x1 copy number loss See cases [RCV000050298] Chr1:215206760..222004068 [GRCh38]
Chr1:215380103..222177410 [GRCh37]
Chr1:213446726..220244033 [NCBI36]
Chr1:1q41
pathogenic
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 copy number gain See cases [RCV000050981] Chr1:214023812..248918469 [GRCh38]
Chr1:214197155..249212668 [GRCh37]
Chr1:212263778..247179291 [NCBI36]
Chr1:1q32.3-44
pathogenic
GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3 copy number gain See cases [RCV000051857] Chr1:187143981..224299417 [GRCh38]
Chr1:187113113..224487119 [GRCh37]
Chr1:185379736..222553742 [NCBI36]
Chr1:1q31.1-42.11
pathogenic
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 copy number gain See cases [RCV000051861] Chr1:209646207..248931113 [GRCh38]
Chr1:209819552..249225312 [GRCh37]
Chr1:207886175..247191935 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q41(chr1:215447347-221971832)x3 copy number gain See cases [RCV000051874] Chr1:215447347..221971832 [GRCh38]
Chr1:215620690..222145174 [GRCh37]
Chr1:213687313..220211797 [NCBI36]
Chr1:1q41
pathogenic
NM_012414.4(RAB3GAP2):c.774A>G (p.Leu258=) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000553551]|not provided [RCV000118100] Chr1:220202313 [GRCh38]
Chr1:220375655 [GRCh37]
Chr1:1q41
benign|uncertain significance
NM_012414.4(RAB3GAP2):c.1792A>C (p.Ile598Leu) single nucleotide variant not provided [RCV000118103] Chr1:220185729 [GRCh38]
Chr1:220359071 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.3(IARS2):c.2880C>T (p.Phe960=) single nucleotide variant Malignant melanoma [RCV000064541] Chr1:220145637 [GRCh38]
Chr1:220318979 [GRCh37]
Chr1:218385602 [NCBI36]
Chr1:1q41
not provided
NM_012414.4(RAB3GAP2):c.938C>T (p.Thr313Ile) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000876021]|not provided [RCV001570538]|not specified [RCV000118101] Chr1:220196272 [GRCh38]
Chr1:220369614 [GRCh37]
Chr1:1q41
benign|likely benign
NM_012414.4(RAB3GAP2):c.1779+7G>A single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000874226]|Cataract-intellectual disability-hypogonadism syndrome [RCV001097082]|Warburg micro syndrome 2 [RCV001097081]|not specified [RCV000118102] Chr1:220189696 [GRCh38]
Chr1:220363038 [GRCh37]
Chr1:1q41
benign|likely benign|conflicting interpretations of pathogenicity
NM_012414.4(RAB3GAP2):c.2088A>G (p.Thr696=) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000393075]|Cataract-intellectual disability-hypogonadism syndrome [RCV000527807]|Warburg micro syndrome 2 [RCV000352042]|not specified [RCV000118104] Chr1:220182842 [GRCh38]
Chr1:220356184 [GRCh37]
Chr1:1q41
benign|likely benign|conflicting interpretations of pathogenicity
NM_012414.4(RAB3GAP2):c.2587A>G (p.Thr863Ala) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000406580]|Cataract-intellectual disability-hypogonadism syndrome [RCV000541282]|Warburg micro syndrome 2 [RCV000315560]|not specified [RCV000118105] Chr1:220171111 [GRCh38]
Chr1:220344453 [GRCh37]
Chr1:1q41
benign|likely benign|conflicting interpretations of pathogenicity
NM_012414.4(RAB3GAP2):c.3275G>C (p.Ser1092Thr) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000318653]|Cataract-intellectual disability-hypogonadism syndrome [RCV001516024]|Warburg micro syndrome 2 [RCV000373355]|not specified [RCV000118106] Chr1:220157863 [GRCh38]
Chr1:220331205 [GRCh37]
Chr1:1q41
benign|likely benign|conflicting interpretations of pathogenicity
NM_012414.4(RAB3GAP2):c.3495G>A (p.Leu1165=) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000331360]|Cataract-intellectual disability-hypogonadism syndrome [RCV001516023]|Warburg micro syndrome 2 [RCV000276331]|not specified [RCV000118107] Chr1:220157330 [GRCh38]
Chr1:220330672 [GRCh37]
Chr1:1q41
benign|likely benign|conflicting interpretations of pathogenicity
NM_012414.4(RAB3GAP2):c.1041-18A>C single nucleotide variant not specified [RCV000127679] Chr1:220195185 [GRCh38]
Chr1:220368527 [GRCh37]
Chr1:1q41
benign
NM_012414.4(RAB3GAP2):c.1432_1433dup (p.Trp478fs) microsatellite Cataract-intellectual disability-hypogonadism syndrome [RCV001331769] Chr1:220191121..220191122 [GRCh38]
Chr1:220364463..220364464 [GRCh37]
Chr1:1q41
pathogenic
NM_012414.4(RAB3GAP2):c.1949_1952del (p.Ser650fs) microsatellite not provided [RCV000722204] Chr1:220184082..220184085 [GRCh38]
Chr1:220357424..220357427 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.713-2A>G single nucleotide variant Warburg micro syndrome 2 [RCV000190619]|not provided [RCV000578596] Chr1:220202376 [GRCh38]
Chr1:220375718 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_012414.4(RAB3GAP2):c.1426_1427del (p.Glu476fs) deletion Cataract-intellectual disability-hypogonadism syndrome [RCV001331768] Chr1:220191128..220191129 [GRCh38]
Chr1:220364470..220364471 [GRCh37]
Chr1:1q41
pathogenic
NM_012414.4(RAB3GAP2):c.2366_2370delinsGACTGTGG (p.Gln789_Ser790delinsArgLeuTrp) indel Cataract-intellectual disability-hypogonadism syndrome [RCV001331770] Chr1:220172683..220172687 [GRCh38]
Chr1:220346025..220346029 [GRCh37]
Chr1:1q41
pathogenic
NM_012414.4(RAB3GAP2):c.1660A>G (p.Met554Val) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001349498]|not provided [RCV001762598] Chr1:220190118 [GRCh38]
Chr1:220363460 [GRCh37]
Chr1:1q41
uncertain significance
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 copy number gain See cases [RCV000134979] Chr1:209963625..248918469 [GRCh38]
Chr1:210136970..249212668 [GRCh37]
Chr1:208203593..247179291 [NCBI36]
Chr1:1q32.2-44
pathogenic
NM_012414.4(RAB3GAP2):c.1836C>A (p.Ile612=) single nucleotide variant not provided [RCV000175328] Chr1:220185685 [GRCh38]
Chr1:220359027 [GRCh37]
Chr1:1q41
uncertain significance
GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3 copy number gain See cases [RCV000142054] Chr1:204764914..225408698 [GRCh38]
Chr1:204734042..225596400 [GRCh37]
Chr1:203000665..223663023 [NCBI36]
Chr1:1q32.1-42.12
pathogenic
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 copy number gain See cases [RCV000143727] Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q41(chr1:215206760-222004068)x1 copy number loss See cases [RCV000148255] Chr1:215206760..222004068 [GRCh38]
Chr1:215380103..222177410 [GRCh37]
Chr1:213446726..220244033 [NCBI36]
Chr1:1q41
pathogenic
NM_012414.4(RAB3GAP2):c.4060A>G (p.Ile1354Val) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000638451]|Cataract-intellectual disability-hypogonadism syndrome [RCV001096880]|Warburg micro syndrome 2 [RCV001096881]|not provided [RCV001721259]|not specified [RCV000192933] Chr1:220151373 [GRCh38]
Chr1:220324715 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012414.4(RAB3GAP2):c.2008C>G (p.Leu670Val) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000393027]|Cataract-intellectual disability-hypogonadism syndrome [RCV000877111]|Warburg micro syndrome 2 [RCV000299268]|not provided [RCV001705085]|not specified [RCV000193412] Chr1:220182922 [GRCh38]
Chr1:220356264 [GRCh37]
Chr1:1q41
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012414.4(RAB3GAP2):c.3525C>T (p.Thr1175=) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001500500]|not specified [RCV000193489] Chr1:220157300 [GRCh38]
Chr1:220330642 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_012414.4(RAB3GAP2):c.465C>T (p.Cys155=) single nucleotide variant not provided [RCV000952319]|not specified [RCV000193572] Chr1:220210846 [GRCh38]
Chr1:220384188 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012414.4(RAB3GAP2):c.2522C>T (p.Ala841Val) single nucleotide variant Warburg micro syndrome 2 [RCV001261628]|not specified [RCV000194452] Chr1:220171944 [GRCh38]
Chr1:220345286 [GRCh37]
Chr1:1q41
benign|uncertain significance
NM_012414.4(RAB3GAP2):c.504C>T (p.Tyr168=) single nucleotide variant not specified [RCV000194613] Chr1:220210807 [GRCh38]
Chr1:220384149 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.3924G>C (p.Thr1308=) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000638452]|Cataract-intellectual disability-hypogonadism syndrome [RCV001098631]|Warburg micro syndrome 2 [RCV001098632]|not specified [RCV000194900] Chr1:220151708 [GRCh38]
Chr1:220325050 [GRCh37]
Chr1:1q41
benign|likely benign|conflicting interpretations of pathogenicity
NM_012414.4(RAB3GAP2):c.*1504G>T single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000264736]|Warburg micro syndrome 2 [RCV000366381] Chr1:220149747 [GRCh38]
Chr1:220323089 [GRCh37]
Chr1:1q41
benign|likely benign
GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3 copy number gain See cases [RCV000240137] Chr1:197811907..228997888 [GRCh37]
Chr1:1q31.3-42.13
pathogenic
NM_012414.4(RAB3GAP2):c.-87A>G single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000259332]|Warburg micro syndrome 2 [RCV000356480] Chr1:220272424 [GRCh38]
Chr1:220445766 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.2648C>T (p.Thr883Ile) single nucleotide variant not specified [RCV000192475] Chr1:220171050 [GRCh38]
Chr1:220344392 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.1277G>A (p.Arg426His) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000292775]|Warburg micro syndrome 2 [RCV000387072] Chr1:220191278 [GRCh38]
Chr1:220364620 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.2538T>G (p.Ser846=) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000370134]|Warburg micro syndrome 2 [RCV000275636] Chr1:220171928 [GRCh38]
Chr1:220345270 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.46G>A (p.Ala16Thr) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000284485]|Cataract-intellectual disability-hypogonadism syndrome [RCV001036485]|Warburg micro syndrome 2 [RCV000346523] Chr1:220272292 [GRCh38]
Chr1:220445634 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.3112A>G (p.Ile1038Val) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000284903]|Cataract-intellectual disability-hypogonadism syndrome [RCV000532881]|Warburg micro syndrome 2 [RCV000379323]|not provided [RCV001764259] Chr1:220164775 [GRCh38]
Chr1:220338117 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.3143A>G (p.His1048Arg) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000278970]|Cataract-intellectual disability-hypogonadism syndrome [RCV001459064]|Warburg micro syndrome 2 [RCV000343307]|not provided [RCV000952485] Chr1:220164744 [GRCh38]
Chr1:220338086 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_012414.4(RAB3GAP2):c.2168T>A (p.Val723Glu) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000383731]|Cataract-intellectual disability-hypogonadism syndrome [RCV000540400]|Warburg micro syndrome 2 [RCV000289408]|not specified [RCV000612262] Chr1:220182762 [GRCh38]
Chr1:220356104 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_012414.4(RAB3GAP2):c.1891G>A (p.Gly631Arg) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000265704]|Warburg micro syndrome 2 [RCV000320802] Chr1:220184143 [GRCh38]
Chr1:220357485 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.2416+8_2416+9del deletion Cataract-intellectual disability-hypogonadism syndrome [RCV000372167]|Warburg micro syndrome [RCV000268160] Chr1:220172628..220172629 [GRCh38]
Chr1:220345970..220345971 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.713-12T>C single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000326117]|Warburg micro syndrome 2 [RCV000268675]|not provided [RCV001711772]|not specified [RCV001725158] Chr1:220202386 [GRCh38]
Chr1:220375728 [GRCh37]
Chr1:1q41
benign|likely benign
NM_012414.4(RAB3GAP2):c.1999-26GTTTT[2] microsatellite Cataract-intellectual disability-hypogonadism syndrome [RCV000354100]|Warburg micro syndrome [RCV000259256] Chr1:220182943..220182947 [GRCh38]
Chr1:220356285..220356289 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.1709A>G (p.Asn570Ser) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000384498]|Cataract-intellectual disability-hypogonadism syndrome [RCV000874521]|Warburg micro syndrome 2 [RCV000271357]|not provided [RCV001573951]|not specified [RCV001727672] Chr1:220190069 [GRCh38]
Chr1:220363411 [GRCh37]
Chr1:1q41
benign|likely benign|uncertain significance
NM_012414.4(RAB3GAP2):c.3867+13C>T single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000271419]|Warburg micro syndrome 2 [RCV000365983]|not specified [RCV000429789] Chr1:220153172 [GRCh38]
Chr1:220326514 [GRCh37]
Chr1:1q41
benign|uncertain significance
NM_012414.4(RAB3GAP2):c.3390G>A (p.Ala1130=) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000386137]|Cataract-intellectual disability-hypogonadism syndrome [RCV000874216]|Warburg micro syndrome 2 [RCV000282429]|not provided [RCV001711771]|not specified [RCV000419048] Chr1:220157435 [GRCh38]
Chr1:220330777 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_012414.4(RAB3GAP2):c.612+15T>C single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000282471]|Warburg micro syndrome 2 [RCV000316550] Chr1:220210373 [GRCh38]
Chr1:220383715 [GRCh37]
Chr1:1q41
uncertain significance
Single allele deletion Loeys-Dietz syndrome 4 [RCV000210452] Chr1:215588712..222145072 [GRCh37]
Chr1:1q41
pathogenic
NM_012414.4(RAB3GAP2):c.1960T>C (p.Ser654Pro) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000360343]|Warburg micro syndrome 2 [RCV000305586] Chr1:220184074 [GRCh38]
Chr1:220357416 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.2290C>T (p.Leu764Phe) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000347930]|Cataract-intellectual disability-hypogonadism syndrome [RCV000528699]|Warburg micro syndrome 2 [RCV000283527]|not provided [RCV000224837]|not specified [RCV000502830] Chr1:220182277 [GRCh38]
Chr1:220355619 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_012414.4(RAB3GAP2):c.812-7_812-6del deletion not provided [RCV000224847] Chr1:220196404..220196405 [GRCh38]
Chr1:220369746..220369747 [GRCh37]
Chr1:1q41
benign
NM_012414.4(RAB3GAP2):c.1069G>A (p.Glu357Lys) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000359586]|Warburg micro syndrome 2 [RCV000404057] Chr1:220195139 [GRCh38]
Chr1:220368481 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.613-14del deletion Cataract-intellectual disability-hypogonadism syndrome [RCV000331907]|Warburg micro syndrome [RCV000374823]|not provided [RCV001683185] Chr1:220206020 [GRCh38]
Chr1:220379362 [GRCh37]
Chr1:1q41
benign|uncertain significance
NM_012414.4(RAB3GAP2):c.2304G>A (p.Leu768=) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000323181]|Cataract-intellectual disability-hypogonadism syndrome [RCV000878821]|Warburg micro syndrome 2 [RCV000377797]|not specified [RCV000499622] Chr1:220182263 [GRCh38]
Chr1:220355605 [GRCh37]
Chr1:1q41
benign|likely benign|uncertain significance
NM_012414.4(RAB3GAP2):c.39C>T (p.Asp13=) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000306982]|Cataract-intellectual disability-hypogonadism syndrome [RCV000876108]|Warburg micro syndrome 2 [RCV000390944]|not provided [RCV001577757]|not specified [RCV000595816] Chr1:220272299 [GRCh38]
Chr1:220445641 [GRCh37]
Chr1:1q41
benign|likely benign|uncertain significance
NM_012414.4(RAB3GAP2):c.2527G>A (p.Val843Ile) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000357265]|Warburg micro syndrome 2 [RCV000311814] Chr1:220171939 [GRCh38]
Chr1:220345281 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.2027A>G (p.Glu676Gly) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000348642]|Warburg micro syndrome 2 [RCV000312464] Chr1:220182903 [GRCh38]
Chr1:220356245 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.3991C>A (p.Leu1331Ile) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000335994]|Cataract-intellectual disability-hypogonadism syndrome [RCV000877001]|Warburg micro syndrome 2 [RCV000408354]|not specified [RCV000300499] Chr1:220151641 [GRCh38]
Chr1:220324983 [GRCh37]
Chr1:1q41
benign|likely benign|uncertain significance
NM_012414.4(RAB3GAP2):c.1205C>G (p.Thr402Arg) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000391809]|Cataract-intellectual disability-hypogonadism syndrome [RCV000999629]|Warburg micro syndrome 2 [RCV000338576] Chr1:220193305 [GRCh38]
Chr1:220366647 [GRCh37]
Chr1:1q41
uncertain significance|not provided
NM_012414.4(RAB3GAP2):c.304+12A>G single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000343105]|Warburg micro syndrome 2 [RCV000401636]|not specified [RCV000604277] Chr1:220213844 [GRCh38]
Chr1:220387186 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_012414.4(RAB3GAP2):c.2807-15G>A single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000339952]|Warburg micro syndrome 2 [RCV000390878]|not specified [RCV000603055] Chr1:220167690 [GRCh38]
Chr1:220341032 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_012414.4(RAB3GAP2):c.812-6del deletion Cataract-intellectual disability-hypogonadism syndrome [RCV000365648]|Cataract-intellectual disability-hypogonadism syndrome [RCV001515778]|Warburg micro syndrome [RCV000308689]|not provided [RCV000828468] Chr1:220196404 [GRCh38]
Chr1:220369746 [GRCh37]
Chr1:1q41
benign
NM_012414.4(RAB3GAP2):c.2771G>A (p.Arg924Lys) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000344783]|Warburg micro syndrome 2 [RCV000308608] Chr1:220170927 [GRCh38]
Chr1:220344269 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.1258C>T (p.Arg420Cys) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000525892]|Cataract-intellectual disability-hypogonadism syndrome [RCV001100922]|Warburg micro syndrome 2 [RCV001100921] Chr1:220193252 [GRCh38]
Chr1:220366594 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.2213-1G>A single nucleotide variant Inborn genetic diseases [RCV000623248] Chr1:220182355 [GRCh38]
Chr1:220355697 [GRCh37]
Chr1:1q41
pathogenic
NM_012414.4(RAB3GAP2):c.*2450G>T single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000269035]|Warburg micro syndrome 2 [RCV000370564] Chr1:220148801 [GRCh38]
Chr1:220322143 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.*1335C>T single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000281445]|Warburg micro syndrome 2 [RCV000373640] Chr1:220149916 [GRCh38]
Chr1:220323258 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.-86T>C single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000318093]|Warburg micro syndrome 2 [RCV000274700] Chr1:220272423 [GRCh38]
Chr1:220445765 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.*2464T>C single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000274879]|Warburg micro syndrome 2 [RCV000313656] Chr1:220148787 [GRCh38]
Chr1:220322129 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_012414.4(RAB3GAP2):c.*1694_*1695insACA insertion Cataract-intellectual disability-hypogonadism syndrome [RCV000309389]|Warburg micro syndrome [RCV000270715] Chr1:220149556..220149557 [GRCh38]
Chr1:220322898..220322899 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.*1453T>G single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000268475]|Warburg micro syndrome 2 [RCV000316555] Chr1:220149798 [GRCh38]
Chr1:220323140 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.*645C>T single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000328060]|Warburg micro syndrome 2 [RCV000272931] Chr1:220150606 [GRCh38]
Chr1:220323948 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_012414.4(RAB3GAP2):c.*2512del deletion Cataract-intellectual disability-hypogonadism syndrome [RCV000357127]|Warburg micro syndrome [RCV000299973] Chr1:220148739 [GRCh38]
Chr1:220322081 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.-78C>T single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000314696]|Warburg micro syndrome [RCV000367089] Chr1:220272415 [GRCh38]
Chr1:220445757 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.*2043G>A single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000362941]|Warburg micro syndrome 2 [RCV000315217] Chr1:220149208 [GRCh38]
Chr1:220322550 [GRCh37]
Chr1:1q41
benign|uncertain significance
NM_012414.4(RAB3GAP2):c.*404T>C single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000387992]|Warburg micro syndrome 2 [RCV000333488] Chr1:220150847 [GRCh38]
Chr1:220324189 [GRCh37]
Chr1:1q41
benign|likely benign
NM_012414.4(RAB3GAP2):c.*1130A>G single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000301365]|Warburg micro syndrome 2 [RCV000356138] Chr1:220150121 [GRCh38]
Chr1:220323463 [GRCh37]
Chr1:1q41
benign|likely benign
NM_012414.3(RAB3GAP2):c.-132G>A single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000378418]|Warburg micro syndrome [RCV000316799] Chr1:220272469 [GRCh38]
Chr1:220445811 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.*1271C>T single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000386429]|Warburg micro syndrome 2 [RCV000338879] Chr1:220149980 [GRCh38]
Chr1:220323322 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_012414.4(RAB3GAP2):c.*2518A>G single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000305927]|Warburg micro syndrome 2 [RCV000401920] Chr1:220148733 [GRCh38]
Chr1:220322075 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.*1470G>A single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000379343]|Warburg micro syndrome 2 [RCV000322366] Chr1:220149781 [GRCh38]
Chr1:220323123 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.*2327A>G single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000342878]|Warburg micro syndrome 2 [RCV000371859] Chr1:220148924 [GRCh38]
Chr1:220322266 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_012414.4(RAB3GAP2):c.-48A>G single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000402874]|Warburg micro syndrome 2 [RCV000364095] Chr1:220272385 [GRCh38]
Chr1:220445727 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.*374T>G single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000293766]|Warburg micro syndrome [RCV000348724] Chr1:220150877 [GRCh38]
Chr1:220324219 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.*1144del deletion Cataract-intellectual disability-hypogonadism syndrome [RCV000295570]|Warburg micro syndrome [RCV000407502] Chr1:220150107 [GRCh38]
Chr1:220323449 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.*2102C>A single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000392431]|Warburg micro syndrome 2 [RCV000311288] Chr1:220149149 [GRCh38]
Chr1:220322491 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.*2920_*2922CTT[1] microsatellite Cataract-intellectual disability-hypogonadism syndrome [RCV000386492]|Warburg micro syndrome [RCV000329586] Chr1:220148326..220148328 [GRCh38]
Chr1:220321668..220321670 [GRCh37]
Chr1:1q41
benign
NM_012414.4(RAB3GAP2):c.*925C>T single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000297617]|Warburg micro syndrome 2 [RCV000404193] Chr1:220150326 [GRCh38]
Chr1:220323668 [GRCh37]
Chr1:1q41
benign|likely benign
NM_012414.4(RAB3GAP2):c.*1143A>G single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000405639]|Warburg micro syndrome 2 [RCV000350380] Chr1:220150108 [GRCh38]
Chr1:220323450 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.3(RAB3GAP2):c.*2971_*2974dupAACA duplication Cataract-intellectual disability-hypogonadism syndrome [RCV000356346]|Warburg micro syndrome [RCV000263907] Chr1:220148276..220148277 [GRCh38]
Chr1:220321618..220321619 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.*799dup duplication Cataract-intellectual disability-hypogonadism syndrome [RCV000266909]|Warburg micro syndrome [RCV000361756] Chr1:220150451..220150452 [GRCh38]
Chr1:220323793..220323794 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.613-24dup duplication Cataract-intellectual disability-hypogonadism syndrome [RCV000371348]|Warburg micro syndrome [RCV000274381]|not provided [RCV001538899] Chr1:220206019..220206020 [GRCh38]
Chr1:220379361..220379362 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_012414.4(RAB3GAP2):c.*2347T>C single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000320810]|Warburg micro syndrome 2 [RCV000272718] Chr1:220148904 [GRCh38]
Chr1:220322246 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.*798_*799dup duplication Cataract-intellectual disability-hypogonadism syndrome [RCV000358328]|Warburg micro syndrome [RCV000322256] Chr1:220150451..220150452 [GRCh38]
Chr1:220323793..220323794 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.3702C>T (p.Val1234=) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001078896]|not provided [RCV000281351] Chr1:220153350 [GRCh38]
Chr1:220326692 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012414.4(RAB3GAP2):c.2454C>G (p.Ser818=) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000317777]|Warburg micro syndrome 2 [RCV000262560] Chr1:220172012 [GRCh38]
Chr1:220345354 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.*2392_*2395dup duplication Cataract-intellectual disability-hypogonadism syndrome [RCV000383446]|Warburg micro syndrome [RCV000326564] Chr1:220148855..220148856 [GRCh38]
Chr1:220322197..220322198 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.3842A>G (p.Tyr1281Cys) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001078526]|not provided [RCV000658150] Chr1:220153210 [GRCh38]
Chr1:220326552 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012414.4(RAB3GAP2):c.*2512dup duplication Cataract-intellectual disability-hypogonadism syndrome [RCV000403584]|Warburg micro syndrome [RCV000353477] Chr1:220148738..220148739 [GRCh38]
Chr1:220322080..220322081 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.*2210G>C single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000337013]|Warburg micro syndrome [RCV000279588] Chr1:220149041 [GRCh38]
Chr1:220322383 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.*108T>A single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000280381]|Warburg micro syndrome 2 [RCV000408352] Chr1:220151143 [GRCh38]
Chr1:220324485 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.1159G>A (p.Gly387Ser) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000335077]|Warburg micro syndrome 2 [RCV000280088] Chr1:220193351 [GRCh38]
Chr1:220366693 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.379G>A (p.Glu127Lys) single nucleotide variant not provided [RCV000489755] Chr1:220212894 [GRCh38]
Chr1:220386236 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.1998+331T>C single nucleotide variant not provided [RCV001571590] Chr1:220183705 [GRCh38]
Chr1:220357047 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.1270+241C>T single nucleotide variant not provided [RCV001566471] Chr1:220192999 [GRCh38]
Chr1:220366341 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.2176A>G (p.Ile726Val) single nucleotide variant not provided [RCV001548412] Chr1:220182754 [GRCh38]
Chr1:220356096 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.173A>C (p.Gln58Pro) single nucleotide variant not provided [RCV000523969] Chr1:220232806 [GRCh38]
Chr1:220406148 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.434+14A>G single nucleotide variant not specified [RCV000601155] Chr1:220210941 [GRCh38]
Chr1:220384283 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.*2551_*2552del deletion Cataract-intellectual disability-hypogonadism syndrome [RCV000408213]|Warburg micro syndrome [RCV000346789] Chr1:220148699..220148700 [GRCh38]
Chr1:220322041..220322042 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_012414.4(RAB3GAP2):c.3978G>T (p.Glu1326Asp) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000305520]|Warburg micro syndrome 2 [RCV000360283] Chr1:220151654 [GRCh38]
Chr1:220324996 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.4161C>T (p.Ala1387=) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000638450] Chr1:220151272 [GRCh38]
Chr1:220324614 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.*2550G>C single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000283478]|Warburg micro syndrome 2 [RCV000340812] Chr1:220148701 [GRCh38]
Chr1:220322043 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.*2769G>T single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000295591]|Warburg micro syndrome 2 [RCV000334135] Chr1:220148482 [GRCh38]
Chr1:220321824 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.*2090_*2093AAAT[2] microsatellite Cataract-intellectual disability-hypogonadism syndrome [RCV000406078]|Warburg micro syndrome [RCV000350183] Chr1:220149150..220149153 [GRCh38]
Chr1:220322492..220322495 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.1419A>G (p.Gly473=) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000332598]|Warburg micro syndrome 2 [RCV000296345] Chr1:220191136 [GRCh38]
Chr1:220364478 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.383A>C (p.Glu128Ala) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000286174]|Warburg micro syndrome 2 [RCV000373542] Chr1:220212890 [GRCh38]
Chr1:220386232 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.*2338_*2339del deletion Cataract-intellectual disability-hypogonadism syndrome [RCV000285635]|Warburg micro syndrome [RCV000377212] Chr1:220148912..220148913 [GRCh38]
Chr1:220322254..220322255 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.*537G>C single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000382213]|Warburg micro syndrome 2 [RCV000287740] Chr1:220150714 [GRCh38]
Chr1:220324056 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.3829G>C (p.Glu1277Gln) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000325650]|Warburg micro syndrome [RCV000371016] Chr1:220153223 [GRCh38]
Chr1:220326565 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.1600A>G (p.Thr534Ala) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000326448]|Cataract-intellectual disability-hypogonadism syndrome [RCV000799063]|Warburg micro syndrome 2 [RCV000381099] Chr1:220190408 [GRCh38]
Chr1:220363750 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.*2643T>C single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000381672]|Warburg micro syndrome 2 [RCV000289572] Chr1:220148608 [GRCh38]
Chr1:220321950 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.*1145del deletion Cataract-intellectual disability-hypogonadism syndrome [RCV000289735]|Warburg micro syndrome [RCV000344686] Chr1:220150106 [GRCh38]
Chr1:220323448 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.3868-8A>G single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000404770]|Warburg micro syndrome 2 [RCV000301829] Chr1:220151772 [GRCh38]
Chr1:220325114 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.*2638C>T single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001100113]|Warburg micro syndrome 2 [RCV001100114] Chr1:220148613 [GRCh38]
Chr1:220321955 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.*1560A>G single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001100204]|Warburg micro syndrome 2 [RCV001100203] Chr1:220149691 [GRCh38]
Chr1:220323033 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.*1538T>C single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001100208]|Warburg micro syndrome 2 [RCV001100207] Chr1:220149713 [GRCh38]
Chr1:220323055 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.*1527G>C single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001100209]|Warburg micro syndrome 2 [RCV001100210] Chr1:220149724 [GRCh38]
Chr1:220323066 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.-68C>T single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001099037]|Warburg micro syndrome 2 [RCV001099038] Chr1:220272405 [GRCh38]
Chr1:220445747 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.165_168del (p.Glu56fs) deletion not provided [RCV000598663] Chr1:220232811..220232814 [GRCh38]
Chr1:220406153..220406156 [GRCh37]
Chr1:1q41
pathogenic
NM_012414.4(RAB3GAP2):c.3868-10C>G single nucleotide variant not provided [RCV000591067] Chr1:220151774 [GRCh38]
Chr1:220325116 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.304+1G>C single nucleotide variant not provided [RCV000723055] Chr1:220213855 [GRCh38]
Chr1:220387197 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.1511T>C (p.Ile504Thr) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000534479] Chr1:220190497 [GRCh38]
Chr1:220363839 [GRCh37]
Chr1:1q41
uncertain significance
Single allele deletion Usher syndrome [RCV000505151] Chr1:216066818..222607612 [GRCh38]
Chr1:216240159..222780953 [GRCh37]
Chr1:1q41
likely pathogenic
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44
pathogenic
GRCh37/hg19 1q41-44(chr1:214697099-249224684)x3 copy number gain See cases [RCV000449210] Chr1:214697099..249224684 [GRCh37]
Chr1:1q41-44
pathogenic
GRCh37/hg19 1q41(chr1:220439355-220440855)x1 copy number loss See cases [RCV000446391] Chr1:220439355..220440855 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.961-14G>T single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001098936]|Warburg micro syndrome 2 [RCV001098937]|not provided [RCV000427165] Chr1:220195391 [GRCh38]
Chr1:220368733 [GRCh37]
Chr1:1q41
benign|likely benign
NM_012414.4(RAB3GAP2):c.3701T>C (p.Val1234Ala) single nucleotide variant not provided [RCV000417631] Chr1:220153351 [GRCh38]
Chr1:220326693 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.712+12G>T single nucleotide variant not specified [RCV000421515] Chr1:220205895 [GRCh38]
Chr1:220379237 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.2715C>T (p.Ser905=) single nucleotide variant not specified [RCV000425528] Chr1:220170983 [GRCh38]
Chr1:220344325 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.1215C>T (p.Phe405=) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000549744]|not specified [RCV000436298] Chr1:220193295 [GRCh38]
Chr1:220366637 [GRCh37]
Chr1:1q41
benign|likely benign
NM_012414.4(RAB3GAP2):c.2890G>C (p.Asp964His) single nucleotide variant not specified [RCV000436310] Chr1:220167592 [GRCh38]
Chr1:220340934 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.2461T>C (p.Trp821Arg) single nucleotide variant not provided [RCV000443738] Chr1:220172005 [GRCh38]
Chr1:220345347 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.2778T>C (p.Ser926=) single nucleotide variant not specified [RCV000426349] Chr1:220170920 [GRCh38]
Chr1:220344262 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.3538dup (p.Ser1180fs) duplication not provided [RCV000481555] Chr1:220157286..220157287 [GRCh38]
Chr1:220330628..220330629 [GRCh37]
Chr1:1q41
likely pathogenic
NM_012414.4(RAB3GAP2):c.2844dup (p.Gln949fs) duplication not provided [RCV000480565] Chr1:220167637..220167638 [GRCh38]
Chr1:220340979..220340980 [GRCh37]
Chr1:1q41
pathogenic
NM_012414.4(RAB3GAP2):c.2269C>T (p.His757Tyr) single nucleotide variant not specified [RCV000503373] Chr1:220182298 [GRCh38]
Chr1:220355640 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.1406C>T (p.Ala469Val) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001100652]|Warburg micro syndrome 2 [RCV001100653]|not specified [RCV000501400] Chr1:220191149 [GRCh38]
Chr1:220364491 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.3028G>A (p.Asp1010Asn) single nucleotide variant not specified [RCV000503801] Chr1:220167352 [GRCh38]
Chr1:220340694 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.3965AAG[1] (p.Glu1323del) microsatellite not specified [RCV000501628] Chr1:220151662..220151664 [GRCh38]
Chr1:220325004..220325006 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.3818A>G (p.His1273Arg) single nucleotide variant not specified [RCV000504058] Chr1:220153234 [GRCh38]
Chr1:220326576 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.1631+8G>T single nucleotide variant not specified [RCV000499403] Chr1:220190369 [GRCh38]
Chr1:220363711 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.1030A>G (p.Asn344Asp) single nucleotide variant not specified [RCV000501857] Chr1:220195308 [GRCh38]
Chr1:220368650 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.4025T>C (p.Met1342Thr) single nucleotide variant not specified [RCV000504483] Chr1:220151607 [GRCh38]
Chr1:220324949 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.3171G>A (p.Met1057Ile) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000638448]|not provided [RCV000497690] Chr1:220162252 [GRCh38]
Chr1:220335594 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.3797G>A (p.Ser1266Asn) single nucleotide variant not provided [RCV000498093] Chr1:220153255 [GRCh38]
Chr1:220326597 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.1657G>A (p.Asp553Asn) single nucleotide variant not specified [RCV000500493] Chr1:220190121 [GRCh38]
Chr1:220363463 [GRCh37]
Chr1:1q41
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_012414.4(RAB3GAP2):c.2207dup (p.Leu737fs) duplication Warburg micro syndrome 2 [RCV000500621] Chr1:220182722..220182723 [GRCh38]
Chr1:220356064..220356065 [GRCh37]
Chr1:1q41
pathogenic
NM_012414.4(RAB3GAP2):c.3944C>T (p.Ala1315Val) single nucleotide variant not specified [RCV000502950] Chr1:220151688 [GRCh38]
Chr1:220325030 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.655A>G (p.Ile219Val) single nucleotide variant not specified [RCV000503033] Chr1:220205964 [GRCh38]
Chr1:220379306 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.1481A>G (p.His494Arg) single nucleotide variant not provided [RCV000494478] Chr1:220191074 [GRCh38]
Chr1:220364416 [GRCh37]
Chr1:1q41
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_012414.4(RAB3GAP2):c.1762C>T (p.Pro588Ser) single nucleotide variant not provided [RCV000523363] Chr1:220189720 [GRCh38]
Chr1:220363062 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.2417-7C>T single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000552570] Chr1:220172056 [GRCh38]
Chr1:220345398 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.2667T>G (p.Leu889=) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000638449]|not specified [RCV000602978] Chr1:220171031 [GRCh38]
Chr1:220344373 [GRCh37]
Chr1:1q41
likely benign
NM_012414.3(RAB3GAP2):c.499_507del (p.Phe167_Thr169del) deletion Warburg micro syndrome 2 [RCV000656362]   pathogenic
NM_012414.4(RAB3GAP2):c.3183C>G (p.Phe1061Leu) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000638447] Chr1:220162240 [GRCh38]
Chr1:220335582 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.3154+13A>T single nucleotide variant not specified [RCV000609764] Chr1:220164720 [GRCh38]
Chr1:220338062 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.1984C>T (p.Pro662Ser) single nucleotide variant not provided [RCV000596025] Chr1:220184050 [GRCh38]
Chr1:220357392 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.2212+15A>T single nucleotide variant not specified [RCV000613447] Chr1:220182703 [GRCh38]
Chr1:220356045 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.1281C>T (p.Asp427=) single nucleotide variant not specified [RCV000608472] Chr1:220191274 [GRCh38]
Chr1:220364616 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.1715-8del deletion not specified [RCV000608752] Chr1:220189775 [GRCh38]
Chr1:220363117 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.3999C>T (p.Pro1333=) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001510757]|not provided [RCV001719151] Chr1:220151633 [GRCh38]
Chr1:220324975 [GRCh37]
Chr1:1q41
benign|likely benign
NM_012414.4(RAB3GAP2):c.713-20T>C single nucleotide variant not specified [RCV000605713] Chr1:220202394 [GRCh38]
Chr1:220375736 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.2030A>G (p.Lys677Arg) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001306607]|not provided [RCV000658293] Chr1:220182900 [GRCh38]
Chr1:220356242 [GRCh37]
Chr1:1q41
uncertain significance
GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3 copy number gain not provided [RCV000684700] Chr1:218252551..249224684 [GRCh37]
Chr1:1q41-44
pathogenic
GRCh37/hg19 1q41(chr1:220262511-220346373)x1 copy number loss not provided [RCV000684703] Chr1:220262511..220346373 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.1396G>C (p.Val466Leu) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000685598] Chr1:220191159 [GRCh38]
Chr1:220364501 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.467T>C (p.Ile156Thr) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000685673]|Cataract-intellectual disability-hypogonadism syndrome [RCV001100756]|Warburg micro syndrome 2 [RCV001100757]|not provided [RCV001771930] Chr1:220210844 [GRCh38]
Chr1:220384186 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.1580C>T (p.Pro527Leu) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000704047]|Global developmental delay [RCV001281480]|not provided [RCV001548478] Chr1:220190428 [GRCh38]
Chr1:220363770 [GRCh37]
Chr1:1q41
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q25.3-41(chr1:185644663-221698833)x3 copy number gain not provided [RCV000749265] Chr1:185644663..221698833 [GRCh37]
Chr1:1q25.3-41
pathogenic
GRCh37/hg19 1q41(chr1:220331205-220579458)x3 copy number gain not provided [RCV000749371] Chr1:220331205..220579458 [GRCh37]
Chr1:1q41
benign
NM_012414.4(RAB3GAP2):c.1271-224G>A single nucleotide variant not provided [RCV001680098] Chr1:220191508 [GRCh38]
Chr1:220364850 [GRCh37]
Chr1:1q41
benign
NM_012414.4(RAB3GAP2):c.812-153C>A single nucleotide variant not provided [RCV001572465] Chr1:220196551 [GRCh38]
Chr1:220369893 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.2806+181C>T single nucleotide variant not provided [RCV001566305] Chr1:220170711 [GRCh38]
Chr1:220344053 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.613-155C>G single nucleotide variant not provided [RCV001645855] Chr1:220206161 [GRCh38]
Chr1:220379503 [GRCh37]
Chr1:1q41
benign
NM_012414.4(RAB3GAP2):c.3G>A (p.Met1Ile) single nucleotide variant Warburg micro syndrome 2 [RCV001706793] Chr1:220272335 [GRCh38]
Chr1:220445677 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.540G>A (p.Leu180=) single nucleotide variant not provided [RCV000902779] Chr1:220210460 [GRCh38]
Chr1:220383802 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.3996A>G (p.Pro1332=) single nucleotide variant not provided [RCV000876536] Chr1:220151636 [GRCh38]
Chr1:220324978 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.3180G>A (p.Thr1060=) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001460826]|not provided [RCV000878862] Chr1:220162243 [GRCh38]
Chr1:220335585 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.3400G>C (p.Val1134Leu) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000945466] Chr1:220157425 [GRCh38]
Chr1:220330767 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.613-9C>T single nucleotide variant not provided [RCV000946298] Chr1:220206015 [GRCh38]
Chr1:220379357 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.112C>T (p.Pro38Ser) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001488859]|not provided [RCV000945958] Chr1:220272226 [GRCh38]
Chr1:220445568 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.589C>T (p.Arg197Ter) single nucleotide variant RAB3GAP2-Related Disorders [RCV000778968] Chr1:220210411 [GRCh38]
Chr1:220383753 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.3555+10T>C single nucleotide variant not provided [RCV000926780] Chr1:220157260 [GRCh38]
Chr1:220330602 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.3294T>C (p.Ser1098=) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000946166]|Cataract-intellectual disability-hypogonadism syndrome [RCV001102386]|Warburg micro syndrome 2 [RCV001102387] Chr1:220157844 [GRCh38]
Chr1:220331186 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_012414.4(RAB3GAP2):c.2403G>A (p.Leu801=) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000977272] Chr1:220172650 [GRCh38]
Chr1:220345992 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.3966A>G (p.Lys1322=) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000876675]|Cataract-intellectual disability-hypogonadism syndrome [RCV001098629]|Warburg micro syndrome 2 [RCV001098630]|not provided [RCV001712822] Chr1:220151666 [GRCh38]
Chr1:220325008 [GRCh37]
Chr1:1q41
benign|likely benign
NM_012414.4(RAB3GAP2):c.2981-6T>C single nucleotide variant not provided [RCV000918836] Chr1:220167405 [GRCh38]
Chr1:220340747 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.516T>C (p.Gly172=) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001495250]|not provided [RCV000874861] Chr1:220210484 [GRCh38]
Chr1:220383826 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.747A>C (p.Pro249=) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001393104]|not provided [RCV000963557] Chr1:220202340 [GRCh38]
Chr1:220375682 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.2367G>A (p.Gln789=) single nucleotide variant not provided [RCV000876193] Chr1:220172686 [GRCh38]
Chr1:220346028 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.3240A>G (p.Pro1080=) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001405181]|not provided [RCV000980679] Chr1:220159407 [GRCh38]
Chr1:220332749 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.2624C>G (p.Ser875Cys) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000817350] Chr1:220171074 [GRCh38]
Chr1:220344416 [GRCh37]
Chr1:1q41
uncertain significance
GRCh37/hg19 1q41-42.11(chr1:219734913-224104993)x1 copy number loss not provided [RCV001005174] Chr1:219734913..224104993 [GRCh37]
Chr1:1q41-42.11
pathogenic
NM_012414.4(RAB3GAP2):c.1393C>T (p.Leu465Phe) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000816109]|not provided [RCV001547331] Chr1:220191162 [GRCh38]
Chr1:220364504 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.1488-222_1488-221del deletion not provided [RCV000838347] Chr1:220190741..220190742 [GRCh38]
Chr1:220364083..220364084 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.3205G>A (p.Ala1069Thr) single nucleotide variant not provided [RCV000994262] Chr1:220162218 [GRCh38]
Chr1:220335560 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.1715-8C>T single nucleotide variant not provided [RCV000994263] Chr1:220189775 [GRCh38]
Chr1:220363117 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.3225+110T>C single nucleotide variant not provided [RCV000827532] Chr1:220162088 [GRCh38]
Chr1:220335430 [GRCh37]
Chr1:1q41
benign
NC_000001.11:g.220196404del deletion not provided [RCV000828468] Chr1:1q41 benign
NM_012414.4(RAB3GAP2):c.612+281G>C single nucleotide variant not provided [RCV000840536] Chr1:220210107 [GRCh38]
Chr1:220383449 [GRCh37]
Chr1:1q41
benign
NM_012414.4(RAB3GAP2):c.304+330A>G single nucleotide variant not provided [RCV000840537] Chr1:220213526 [GRCh38]
Chr1:220386868 [GRCh37]
Chr1:1q41
benign
NM_012414.4(RAB3GAP2):c.305-278G>A single nucleotide variant not provided [RCV000840538] Chr1:220213246 [GRCh38]
Chr1:220386588 [GRCh37]
Chr1:1q41
benign
NM_012414.4(RAB3GAP2):c.116-86T>C single nucleotide variant not provided [RCV000833278] Chr1:220232949 [GRCh38]
Chr1:220406291 [GRCh37]
Chr1:1q41
benign
NM_012414.4(RAB3GAP2):c.*104T>C single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001096876]|Warburg micro syndrome 2 [RCV001096877] Chr1:220151147 [GRCh38]
Chr1:220324489 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.2922T>A (p.Gly974=) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001096985]|Warburg micro syndrome 2 [RCV001096984] Chr1:220167560 [GRCh38]
Chr1:220340902 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.*2176G>C single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001096704]|Warburg micro syndrome 2 [RCV001096703] Chr1:220149075 [GRCh38]
Chr1:220322417 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.1631+6G>A single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000797035] Chr1:220190371 [GRCh38]
Chr1:220363713 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.*2901G>T single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001098325]|Warburg micro syndrome 2 [RCV001098324] Chr1:220148350 [GRCh38]
Chr1:220321692 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.2577+266G>A single nucleotide variant not provided [RCV000833150] Chr1:220171623 [GRCh38]
Chr1:220344965 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.3155-194C>G single nucleotide variant not provided [RCV000835055] Chr1:220162462 [GRCh38]
Chr1:220335804 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.2810G>A (p.Gly937Asp) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000797758] Chr1:220167672 [GRCh38]
Chr1:220341014 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.3757C>T (p.Pro1253Ser) single nucleotide variant not provided [RCV000836068] Chr1:220153295 [GRCh38]
Chr1:220326637 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.1608C>T (p.Asn536=) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001098836]|Warburg micro syndrome 2 [RCV001098835] Chr1:220190400 [GRCh38]
Chr1:220363742 [GRCh37]
Chr1:1q41
uncertain significance
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 copy number gain See cases [RCV001194578] Chr1:210152794..249218992 [GRCh37]
Chr1:1q32.2-44
pathogenic
NM_012414.4(RAB3GAP2):c.86T>G (p.Ile29Ser) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001097282]|Warburg micro syndrome 2 [RCV001097283] Chr1:220272252 [GRCh38]
Chr1:220445594 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.*1559C>T single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001100205]|Warburg micro syndrome 2 [RCV001100206] Chr1:220149692 [GRCh38]
Chr1:220323034 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.*2171A>G single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001096705]|Warburg micro syndrome 2 [RCV001096706] Chr1:220149080 [GRCh38]
Chr1:220322422 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.*1821C>T single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001098436]|Warburg micro syndrome 2 [RCV001098435] Chr1:220149430 [GRCh38]
Chr1:220322772 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.1373C>A (p.Pro458Gln) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001046764] Chr1:220191182 [GRCh38]
Chr1:220364524 [GRCh37]
Chr1:1q41
uncertain significance
GRCh37/hg19 1q41(chr1:220408340-220490046)x1 copy number loss not provided [RCV000848427] Chr1:220408340..220490046 [GRCh37]
Chr1:1q41
pathogenic
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44
pathogenic
NM_012414.4(RAB3GAP2):c.961-2A>G single nucleotide variant Neurodevelopmental delay [RCV000850074] Chr1:220195379 [GRCh38]
Chr1:220368721 [GRCh37]
Chr1:1q41
likely pathogenic
GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3 copy number gain not provided [RCV001005175] Chr1:219916966..239004378 [GRCh37]
Chr1:1q41-43
pathogenic
NM_012414.4(RAB3GAP2):c.2477C>G (p.Thr826Arg) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001215431] Chr1:220171989 [GRCh38]
Chr1:220345331 [GRCh37]
Chr1:1q41
uncertain significance
GRCh37/hg19 1q41(chr1:219379258-222049547)x3 copy number gain not provided [RCV000848714] Chr1:219379258..222049547 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.1516G>A (p.Gly506Ser) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001100651]|Warburg micro syndrome 2 [RCV001100650] Chr1:220190492 [GRCh38]
Chr1:220363834 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.*1340T>C single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001096792]|Warburg micro syndrome 2 [RCV001096791] Chr1:220149911 [GRCh38]
Chr1:220323253 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.520C>G (p.Leu174Val) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001100755]|Microcephaly [RCV001252720]|Warburg micro syndrome 2 [RCV001100754] Chr1:220210480 [GRCh38]
Chr1:220383822 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.1283C>A (p.Ala428Glu) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001090068] Chr1:220191272 [GRCh38]
Chr1:220364614 [GRCh37]
Chr1:1q41
likely pathogenic
NM_012414.4(RAB3GAP2):c.1379G>C (p.Arg460Pro) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001201603] Chr1:220191176 [GRCh38]
Chr1:220364518 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.2137T>G (p.Phe713Val) single nucleotide variant not provided [RCV001550392] Chr1:220182793 [GRCh38]
Chr1:220356135 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.2416+285T>C single nucleotide variant not provided [RCV001545354] Chr1:220172352 [GRCh38]
Chr1:220345694 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.2311-83T>G single nucleotide variant not provided [RCV001566926] Chr1:220172825 [GRCh38]
Chr1:220346167 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.3154+287del deletion not provided [RCV001552432] Chr1:220164446 [GRCh38]
Chr1:220337788 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.1487+250G>T single nucleotide variant not provided [RCV001555204] Chr1:220190818 [GRCh38]
Chr1:220364160 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.2213-72G>T single nucleotide variant not provided [RCV001576348] Chr1:220182426 [GRCh38]
Chr1:220355768 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.2578-313A>G single nucleotide variant not provided [RCV001555415] Chr1:220171433 [GRCh38]
Chr1:220344775 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.2416+101T>C single nucleotide variant not provided [RCV001534356] Chr1:220172536 [GRCh38]
Chr1:220345878 [GRCh37]
Chr1:1q41
benign
NM_012414.4(RAB3GAP2):c.1131-225G>A single nucleotide variant not provided [RCV001645517] Chr1:220193604 [GRCh38]
Chr1:220366946 [GRCh37]
Chr1:1q41
benign
NM_012414.4(RAB3GAP2):c.2577+176A>G single nucleotide variant not provided [RCV001556030] Chr1:220171713 [GRCh38]
Chr1:220345055 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.811+199T>A single nucleotide variant not provided [RCV001661242] Chr1:220202077 [GRCh38]
Chr1:220375419 [GRCh37]
Chr1:1q41
benign
NM_012414.4(RAB3GAP2):c.712+283G>C single nucleotide variant not provided [RCV001691242] Chr1:220205624 [GRCh38]
Chr1:220378966 [GRCh37]
Chr1:1q41
benign
NM_012414.4(RAB3GAP2):c.613-207A>C single nucleotide variant not provided [RCV001569927] Chr1:220206213 [GRCh38]
Chr1:220379555 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.713-72G>A single nucleotide variant not provided [RCV001557589] Chr1:220202446 [GRCh38]
Chr1:220375788 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.811+158A>G single nucleotide variant not provided [RCV001718271] Chr1:220202118 [GRCh38]
Chr1:220375460 [GRCh37]
Chr1:1q41
benign
NM_012414.4(RAB3GAP2):c.2577+79G>A single nucleotide variant not provided [RCV001545157] Chr1:220171810 [GRCh38]
Chr1:220345152 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.33C>G (p.Phe11Leu) single nucleotide variant not provided [RCV001571507] Chr1:220272305 [GRCh38]
Chr1:220445647 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.612+29A>G single nucleotide variant not provided [RCV001563415] Chr1:220210359 [GRCh38]
Chr1:220383701 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.2417-181T>G single nucleotide variant not provided [RCV001674783] Chr1:220172230 [GRCh38]
Chr1:220345572 [GRCh37]
Chr1:1q41
benign
NM_012414.4(RAB3GAP2):c.950A>G (p.Tyr317Cys) single nucleotide variant not provided [RCV001578267] Chr1:220196260 [GRCh38]
Chr1:220369602 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.3154+241dup duplication not provided [RCV001614711] Chr1:220164473..220164474 [GRCh38]
Chr1:220337815..220337816 [GRCh37]
Chr1:1q41
benign
NM_012414.4(RAB3GAP2):c.3154+278dup duplication not provided [RCV001618880] Chr1:220164445..220164446 [GRCh38]
Chr1:220337787..220337788 [GRCh37]
Chr1:1q41
benign
NM_012414.4(RAB3GAP2):c.2578-170C>T single nucleotide variant not provided [RCV001599047] Chr1:220171290 [GRCh38]
Chr1:220344632 [GRCh37]
Chr1:1q41
benign
NM_012414.4(RAB3GAP2):c.4026+10A>G single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000955099] Chr1:220151596 [GRCh38]
Chr1:220324938 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.3648C>T (p.Phe1216=) single nucleotide variant not provided [RCV000930298] Chr1:220153404 [GRCh38]
Chr1:220326746 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.2295C>T (p.Ser765=) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001479522]|not provided [RCV000953820] Chr1:220182272 [GRCh38]
Chr1:220355614 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.597C>T (p.Pro199=) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000953955] Chr1:220210403 [GRCh38]
Chr1:220383745 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.3616G>T (p.Asp1206Tyr) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV000876115] Chr1:220153997 [GRCh38]
Chr1:220327339 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.*391C>T single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001102282]|Warburg micro syndrome 2 [RCV001102281] Chr1:220150860 [GRCh38]
Chr1:220324202 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.387-2A>G single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001090067] Chr1:220211004 [GRCh38]
Chr1:220384346 [GRCh37]
Chr1:1q41
likely pathogenic
NM_012414.4(RAB3GAP2):c.3154+3A>G single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001220751] Chr1:220164730 [GRCh38]
Chr1:220338072 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.1260C>T (p.Arg420=) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001238007] Chr1:220193250 [GRCh38]
Chr1:220366592 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.1407G>A (p.Ala469=) single nucleotide variant not provided [RCV000911722] Chr1:220191148 [GRCh38]
Chr1:220364490 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.2786dup (p.Leu930fs) duplication not provided [RCV001577318] Chr1:220170911..220170912 [GRCh38]
Chr1:220344253..220344254 [GRCh37]
Chr1:1q41
likely pathogenic
NM_012414.4(RAB3GAP2):c.3261+106G>A single nucleotide variant not provided [RCV001567536] Chr1:220159280 [GRCh38]
Chr1:220332622 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.2310+198dup duplication not provided [RCV001677344] Chr1:220182049..220182050 [GRCh38]
Chr1:220355391..220355392 [GRCh37]
Chr1:1q41
benign
NM_012414.4(RAB3GAP2):c.3691G>A (p.Ala1231Thr) single nucleotide variant not provided [RCV000994261] Chr1:220153361 [GRCh38]
Chr1:220326703 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.115+247G>A single nucleotide variant not provided [RCV001677756] Chr1:220271976 [GRCh38]
Chr1:220445318 [GRCh37]
Chr1:1q41
benign
NM_012414.4(RAB3GAP2):c.3154+259del deletion not provided [RCV001620138] Chr1:220164474 [GRCh38]
Chr1:220337816 [GRCh37]
Chr1:1q41
benign
NM_012414.4(RAB3GAP2):c.3155-115A>G single nucleotide variant not provided [RCV001635732] Chr1:220162383 [GRCh38]
Chr1:220335725 [GRCh37]
Chr1:1q41
benign
NM_012414.4(RAB3GAP2):c.3155-141A>G single nucleotide variant not provided [RCV001569156] Chr1:220162409 [GRCh38]
Chr1:220335751 [GRCh37]
Chr1:1q41
likely benign
GRCh37/hg19 1q41(chr1:219959610-220609144)x3 copy number gain not provided [RCV001005177] Chr1:219959610..220609144 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.304+25A>T single nucleotide variant not provided [RCV001539463] Chr1:220213831 [GRCh38]
Chr1:220387173 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.304+116C>T single nucleotide variant not provided [RCV001716616] Chr1:220213740 [GRCh38]
Chr1:220387082 [GRCh37]
Chr1:1q41
benign
NM_012414.4(RAB3GAP2):c.304+115C>T single nucleotide variant not provided [RCV001651953] Chr1:220213741 [GRCh38]
Chr1:220387083 [GRCh37]
Chr1:1q41
benign
NM_012414.4(RAB3GAP2):c.1780-154C>A single nucleotide variant not provided [RCV001722966] Chr1:220185895 [GRCh38]
Chr1:220359237 [GRCh37]
Chr1:1q41
benign
NM_012414.4(RAB3GAP2):c.3556-175T>C single nucleotide variant not provided [RCV001589531] Chr1:220154232 [GRCh38]
Chr1:220327574 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.1779+263G>A single nucleotide variant not provided [RCV001638875] Chr1:220189440 [GRCh38]
Chr1:220362782 [GRCh37]
Chr1:1q41
benign
NM_012414.4(RAB3GAP2):c.3400G>A (p.Val1134Met) single nucleotide variant not provided [RCV001723403] Chr1:220157425 [GRCh38]
Chr1:220330767 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.4026+59G>C single nucleotide variant not provided [RCV001718121] Chr1:220151547 [GRCh38]
Chr1:220324889 [GRCh37]
Chr1:1q41
benign
NM_012414.4(RAB3GAP2):c.2416+119G>A single nucleotide variant not provided [RCV001719329] Chr1:220172518 [GRCh38]
Chr1:220345860 [GRCh37]
Chr1:1q41
benign
NM_012414.4(RAB3GAP2):c.1779+186_1779+187del deletion not provided [RCV001717445] Chr1:220189516..220189517 [GRCh38]
Chr1:220362858..220362859 [GRCh37]
Chr1:1q41
benign
NM_012414.4(RAB3GAP2):c.2310+165del deletion not provided [RCV001620028] Chr1:220182092 [GRCh38]
Chr1:220355434 [GRCh37]
Chr1:1q41
benign
NM_012414.4(RAB3GAP2):c.1780-264A>G single nucleotide variant not provided [RCV001635794] Chr1:220186005 [GRCh38]
Chr1:220359347 [GRCh37]
Chr1:1q41
benign
NM_012414.4(RAB3GAP2):c.811+242C>T single nucleotide variant not provided [RCV001598478] Chr1:220202034 [GRCh38]
Chr1:220375376 [GRCh37]
Chr1:1q41
benign
NM_012414.4(RAB3GAP2):c.613-208C>A single nucleotide variant not provided [RCV001670900] Chr1:220206214 [GRCh38]
Chr1:220379556 [GRCh37]
Chr1:1q41
benign
NM_012414.4(RAB3GAP2):c.2282C>T (p.Ser761Leu) single nucleotide variant not provided [RCV001658940] Chr1:220182285 [GRCh38]
Chr1:220355627 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.3262-80G>C single nucleotide variant not provided [RCV001718269] Chr1:220157956 [GRCh38]
Chr1:220331298 [GRCh37]
Chr1:1q41
benign
NM_012414.4(RAB3GAP2):c.1779+187del deletion not provided [RCV001722703] Chr1:220189516 [GRCh38]
Chr1:220362858 [GRCh37]
Chr1:1q41
benign
NM_012414.4(RAB3GAP2):c.*436A>G single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001102277]|Warburg micro syndrome 2 [RCV001102278] Chr1:220150815 [GRCh38]
Chr1:220324157 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.*572G>T single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001100310]|Warburg micro syndrome 2 [RCV001100311] Chr1:220150679 [GRCh38]
Chr1:220324021 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.376G>A (p.Val126Ile) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001101012]|Warburg micro syndrome 2 [RCV001101011] Chr1:220212897 [GRCh38]
Chr1:220386239 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.205A>G (p.Thr69Ala) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001101014]|Warburg micro syndrome 2 [RCV001101013] Chr1:220213955 [GRCh38]
Chr1:220387297 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.*1404T>C single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001102194]|Warburg micro syndrome 2 [RCV001102193] Chr1:220149847 [GRCh38]
Chr1:220323189 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.*417A>G single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001102280]|Warburg micro syndrome 2 [RCV001102279] Chr1:220150834 [GRCh38]
Chr1:220324176 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.*2399A>G single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001102108]|Warburg micro syndrome 2 [RCV001102107] Chr1:220148852 [GRCh38]
Chr1:220322194 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.*2386A>C single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001102110]|Warburg micro syndrome 2 [RCV001102109] Chr1:220148865 [GRCh38]
Chr1:220322207 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.812-276A>G single nucleotide variant not provided [RCV001590159] Chr1:220196674 [GRCh38]
Chr1:220370016 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.304+112_304+113insTCT insertion not provided [RCV001670844] Chr1:220213743..220213744 [GRCh38]
Chr1:220387085..220387086 [GRCh37]
Chr1:1q41
benign
NM_012414.4(RAB3GAP2):c.3226-77dup duplication not provided [RCV001613907] Chr1:220159493..220159494 [GRCh38]
Chr1:220332835..220332836 [GRCh37]
Chr1:1q41
benign
NM_012414.4(RAB3GAP2):c.181-284A>G single nucleotide variant not provided [RCV001707396] Chr1:220214263 [GRCh38]
Chr1:220387605 [GRCh37]
Chr1:1q41
benign
NM_012414.4(RAB3GAP2):c.4027-5T>C single nucleotide variant not provided [RCV001585369] Chr1:220151411 [GRCh38]
Chr1:220324753 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.1998+77A>G single nucleotide variant not provided [RCV001648467] Chr1:220183959 [GRCh38]
Chr1:220357301 [GRCh37]
Chr1:1q41
benign
NM_012414.4(RAB3GAP2):c.3261+176G>A single nucleotide variant not provided [RCV001666214] Chr1:220159210 [GRCh38]
Chr1:220332552 [GRCh37]
Chr1:1q41
benign
NM_012414.4(RAB3GAP2):c.3262-101A>C single nucleotide variant not provided [RCV001616344] Chr1:220157977 [GRCh38]
Chr1:220331319 [GRCh37]
Chr1:1q41
benign
NM_012414.4(RAB3GAP2):c.3226-113C>T single nucleotide variant not provided [RCV001668973] Chr1:220159534 [GRCh38]
Chr1:220332876 [GRCh37]
Chr1:1q41
benign
NM_012414.4(RAB3GAP2):c.448C>T (p.Arg150Cys) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001235809] Chr1:220210863 [GRCh38]
Chr1:220384205 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.702G>C (p.Gln234His) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001230152] Chr1:220205917 [GRCh38]
Chr1:220379259 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.*78G>A single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001096879]|Warburg micro syndrome 2 [RCV001096878] Chr1:220151173 [GRCh38]
Chr1:220324515 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.*2336T>G single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001096701]|Warburg micro syndrome 2 [RCV001096702] Chr1:220148915 [GRCh38]
Chr1:220322257 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.-20T>C single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001097285]|Warburg micro syndrome 2 [RCV001097284] Chr1:220272357 [GRCh38]
Chr1:220445699 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.503A>G (p.Tyr168Cys) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001039050] Chr1:220210808 [GRCh38]
Chr1:220384150 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.*2695T>C single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001098326]|Warburg micro syndrome 2 [RCV001098327] Chr1:220148556 [GRCh38]
Chr1:220321898 [GRCh37]
Chr1:1q41
uncertain significance
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44
pathogenic
NM_012414.4(RAB3GAP2):c.1379G>A (p.Arg460Gln) single nucleotide variant Tracheoesophageal fistula [RCV001172301] Chr1:220191176 [GRCh38]
Chr1:220364518 [GRCh37]
Chr1:1q41
likely pathogenic
NM_012414.4(RAB3GAP2):c.*1087A>C single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001098541]|Warburg micro syndrome 2 [RCV001098540] Chr1:220150164 [GRCh38]
Chr1:220323506 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.*777T>C single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001098543]|Warburg micro syndrome 2 [RCV001098542] Chr1:220150474 [GRCh38]
Chr1:220323816 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.1593T>A (p.Ser531Arg) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001098837]|Warburg micro syndrome 2 [RCV001098838] Chr1:220190415 [GRCh38]
Chr1:220363757 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.695G>A (p.Arg232Gln) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001098940]|Warburg micro syndrome 2 [RCV001098941] Chr1:220205924 [GRCh38]
Chr1:220379266 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.960+13T>G single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001098939]|Warburg micro syndrome 2 [RCV001098938] Chr1:220196237 [GRCh38]
Chr1:220369579 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.1580C>G (p.Pro527Arg) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001100648]|Warburg micro syndrome 2 [RCV001100649] Chr1:220190428 [GRCh38]
Chr1:220363770 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.2564T>A (p.Met855Lys) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001054741] Chr1:220171902 [GRCh38]
Chr1:220345244 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.613-14T>A single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001100753]|Warburg micro syndrome 2 [RCV001100752] Chr1:220206020 [GRCh38]
Chr1:220379362 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.*509G>A single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001100313]|Warburg micro syndrome 2 [RCV001100312] Chr1:220150742 [GRCh38]
Chr1:220324084 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.2981-7C>T single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001096983]|Warburg micro syndrome 2 [RCV001096982] Chr1:220167406 [GRCh38]
Chr1:220340748 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.1244G>A (p.Arg415Lys) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001100924]|Warburg micro syndrome 2 [RCV001100923] Chr1:220193266 [GRCh38]
Chr1:220366608 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.2059G>A (p.Glu687Lys) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001102480]|Warburg micro syndrome 2 [RCV001102481] Chr1:220182871 [GRCh38]
Chr1:220356213 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.*1791T>C single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001098438]|Warburg micro syndrome 2 [RCV001098437] Chr1:220149460 [GRCh38]
Chr1:220322802 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.1589G>A (p.Gly530Glu) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001098840]|Warburg micro syndrome 2 [RCV001098839] Chr1:220190419 [GRCh38]
Chr1:220363761 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.2473C>G (p.Arg825Gly) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001204700] Chr1:220171993 [GRCh38]
Chr1:220345335 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.2340G>C (p.Lys780Asn) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001100535]|Warburg micro syndrome 2 [RCV001100536] Chr1:220172713 [GRCh38]
Chr1:220346055 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.1328T>C (p.Val443Ala) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001100919]|Warburg micro syndrome 2 [RCV001100920] Chr1:220191227 [GRCh38]
Chr1:220364569 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.10T>C (p.Ser4Pro) single nucleotide variant Microcephaly [RCV001252721] Chr1:220272328 [GRCh38]
Chr1:220445670 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.3385G>A (p.Asp1129Asn) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001260191] Chr1:220157440 [GRCh38]
Chr1:220330782 [GRCh37]
Chr1:1q41
likely pathogenic
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stroma tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance
NM_012414.4(RAB3GAP2):c.3867+33C>G single nucleotide variant not provided [RCV001575657] Chr1:220153152 [GRCh38]
Chr1:220326494 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.812-261G>A single nucleotide variant not provided [RCV001564984] Chr1:220196659 [GRCh38]
Chr1:220370001 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.304+1G>A single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001332962] Chr1:220213855 [GRCh38]
Chr1:220387197 [GRCh37]
Chr1:1q41
pathogenic
NM_012414.4(RAB3GAP2):c.284A>G (p.Gln95Arg) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001318889] Chr1:220213876 [GRCh38]
Chr1:220387218 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.2215A>G (p.Ser739Gly) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001335579] Chr1:220182352 [GRCh38]
Chr1:220355694 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.2884G>A (p.Glu962Lys) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001318459] Chr1:220167598 [GRCh38]
Chr1:220340940 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.214del (p.Thr72fs) deletion not provided [RCV001270005] Chr1:220213946 [GRCh38]
Chr1:220387288 [GRCh37]
Chr1:1q41
pathogenic
NM_012414.4(RAB3GAP2):c.3673G>A (p.Val1225Ile) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001361911] Chr1:220153379 [GRCh38]
Chr1:220326721 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.1649G>A (p.Arg550Gln) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001351006] Chr1:220190129 [GRCh38]
Chr1:220363471 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.1743_1746del (p.Leu581fs) microsatellite not provided [RCV001269616] Chr1:220189736..220189739 [GRCh38]
Chr1:220363078..220363081 [GRCh37]
Chr1:1q41
pathogenic
NM_012414.4(RAB3GAP2):c.3453C>T (p.His1151=) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001471109] Chr1:220157372 [GRCh38]
Chr1:220330714 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.927C>A (p.Ser309=) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001477346] Chr1:220196283 [GRCh38]
Chr1:220369625 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.3690A>G (p.Ser1230=) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001440102] Chr1:220153362 [GRCh38]
Chr1:220326704 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.372A>G (p.Leu124=) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001423586] Chr1:220212901 [GRCh38]
Chr1:220386243 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.713-237T>A single nucleotide variant not provided [RCV001612872] Chr1:220202611 [GRCh38]
Chr1:220375953 [GRCh37]
Chr1:1q41
benign
NM_012414.4(RAB3GAP2):c.180+87A>G single nucleotide variant not provided [RCV001717416] Chr1:220232712 [GRCh38]
Chr1:220406054 [GRCh37]
Chr1:1q41
benign
NM_012414.4(RAB3GAP2):c.115+77G>A single nucleotide variant not provided [RCV001717441] Chr1:220272146 [GRCh38]
Chr1:220445488 [GRCh37]
Chr1:1q41
benign
NM_012414.4(RAB3GAP2):c.1270+85A>T single nucleotide variant not provided [RCV001717443] Chr1:220193155 [GRCh38]
Chr1:220366497 [GRCh37]
Chr1:1q41
benign
NM_012414.4(RAB3GAP2):c.304+121C>T single nucleotide variant not provided [RCV001655463] Chr1:220213735 [GRCh38]
Chr1:220387077 [GRCh37]
Chr1:1q41
benign
NM_012414.4(RAB3GAP2):c.2981-9_2981-6del deletion Cataract-intellectual disability-hypogonadism syndrome [RCV001457290] Chr1:220167405..220167408 [GRCh38]
Chr1:220340747..220340750 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.2401C>T (p.Leu801=) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001480454] Chr1:220172652 [GRCh38]
Chr1:220345994 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.1584G>T (p.Val528=) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001500950] Chr1:220190424 [GRCh38]
Chr1:220363766 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.115+294dup duplication not provided [RCV001695801] Chr1:220271928..220271929 [GRCh38]
Chr1:220445270..220445271 [GRCh37]
Chr1:1q41
benign
NM_012414.4(RAB3GAP2):c.1059A>G (p.Lys353=) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001502388] Chr1:220195149 [GRCh38]
Chr1:220368491 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.2417-4A>G single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001517518] Chr1:220172053 [GRCh38]
Chr1:220345395 [GRCh37]
Chr1:1q41
benign
NM_012414.4(RAB3GAP2):c.2488C>T (p.Gln830Ter) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001527355] Chr1:220171978 [GRCh38]
Chr1:220345320 [GRCh37]
Chr1:1q41
pathogenic
NM_012414.4(RAB3GAP2):c.1955T>A (p.Leu652Ter) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001527356] Chr1:220184079 [GRCh38]
Chr1:220357421 [GRCh37]
Chr1:1q41
pathogenic
NM_012414.4(RAB3GAP2):c.3868-31C>G single nucleotide variant not provided [RCV001654922] Chr1:220151795 [GRCh38]
Chr1:220325137 [GRCh37]
Chr1:1q41
benign
NM_012414.4(RAB3GAP2):c.3556-46del deletion not provided [RCV001714360] Chr1:220154103 [GRCh38]
Chr1:220327445 [GRCh37]
Chr1:1q41
benign
NM_012414.4(RAB3GAP2):c.2988G>A (p.Leu996=) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001491842] Chr1:220167392 [GRCh38]
Chr1:220340734 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.511-7C>T single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001491857] Chr1:220210496 [GRCh38]
Chr1:220383838 [GRCh37]
Chr1:1q41
likely benign
NM_012414.4(RAB3GAP2):c.3340G>A (p.Asp1114Asn) single nucleotide variant not provided [RCV001763235] Chr1:220157485 [GRCh38]
Chr1:220330827 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.40C>G (p.Leu14Val) single nucleotide variant not provided [RCV001763265] Chr1:220272298 [GRCh38]
Chr1:220445640 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.2878A>G (p.Asn960Asp) single nucleotide variant not provided [RCV001786050]   uncertain significance
NM_012414.4(RAB3GAP2):c.944TCT[1] (p.Phe316del) microsatellite not provided [RCV001765356] Chr1:220196261..220196263 [GRCh38]
Chr1:220369603..220369605 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.434+1G>A single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001771774] Chr1:220210954 [GRCh38]
Chr1:220384296 [GRCh37]
Chr1:1q41
likely pathogenic
NM_012414.4(RAB3GAP2):c.3862G>T (p.Glu1288Ter) single nucleotide variant Cataract-intellectual disability-hypogonadism syndrome [RCV001771775] Chr1:220153190 [GRCh38]
Chr1:220326532 [GRCh37]
Chr1:1q41
pathogenic
NM_012414.4(RAB3GAP2):c.1966del (p.Asp656fs) deletion Cataract-intellectual disability-hypogonadism syndrome [RCV001771776] Chr1:220184068 [GRCh38]
Chr1:220357410 [GRCh37]
Chr1:1q41
likely pathogenic
NM_012414.4(RAB3GAP2):c.3961A>G (p.Thr1321Ala) single nucleotide variant not provided [RCV001772564] Chr1:220151671 [GRCh38]
Chr1:220325013 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.3355G>A (p.Glu1119Lys) single nucleotide variant not provided [RCV001768687] Chr1:220157470 [GRCh38]
Chr1:220330812 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.3031G>A (p.Val1011Ile) single nucleotide variant not provided [RCV001754233] Chr1:220167349 [GRCh38]
Chr1:220340691 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.718G>C (p.Ala240Pro) single nucleotide variant not provided [RCV001752331] Chr1:220202369 [GRCh38]
Chr1:220375711 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.1613C>T (p.Pro538Leu) single nucleotide variant not provided [RCV001765730] Chr1:220190395 [GRCh38]
Chr1:220363737 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.1870+2T>C single nucleotide variant not provided [RCV001783660]   likely pathogenic
NM_012414.4(RAB3GAP2):c.5C>G (p.Ala2Gly) single nucleotide variant not provided [RCV001757254] Chr1:220272333 [GRCh38]
Chr1:220445675 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.598G>A (p.Gly200Ser) single nucleotide variant not provided [RCV001757933] Chr1:220210402 [GRCh38]
Chr1:220383744 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.1325G>A (p.Arg442Lys) single nucleotide variant not provided [RCV001756741] Chr1:220191230 [GRCh38]
Chr1:220364572 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.130T>G (p.Trp44Gly) single nucleotide variant not provided [RCV001756875] Chr1:220232849 [GRCh38]
Chr1:220406191 [GRCh37]
Chr1:1q41
uncertain significance
NM_012414.4(RAB3GAP2):c.1994A>C (p.Asp665Ala) single nucleotide variant not provided [RCV001758742] Chr1:220184040 [GRCh38]
Chr1:220357382 [GRCh37]
Chr1:1q41
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17168 AgrOrtholog
COSMIC RAB3GAP2 COSMIC
Ensembl Genes ENSG00000118873 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000351832 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000418560 UniProtKB/TrEMBL
  ENSP00000420156 UniProtKB/TrEMBL
Ensembl Transcript ENST00000358951 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000474178 UniProtKB/TrEMBL
  ENST00000484658 UniProtKB/TrEMBL
GTEx ENSG00000118873 GTEx
HGNC ID HGNC:17168 ENTREZGENE
Human Proteome Map RAB3GAP2 Human Proteome Map
InterPro Rab3-gap_reg UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RAB3GAP2_C UniProtKB/Swiss-Prot
  RAB3GAP_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:25782 UniProtKB/Swiss-Prot
NCBI Gene 25782 ENTREZGENE
OMIM 212720 OMIM
  609275 OMIM
  614225 OMIM
PANTHER PTHR12472 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam RAB3GAP2_C UniProtKB/Swiss-Prot
  RAB3GAP2_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142671105 PharmGKB
UniProt F8WDJ2_HUMAN UniProtKB/TrEMBL
  H7C4Y9_HUMAN UniProtKB/TrEMBL
  Q9H2M9 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A6H8V0 UniProtKB/Swiss-Prot
  O75872 UniProtKB/Swiss-Prot
  Q9HAB0 UniProtKB/Swiss-Prot
  Q9UFJ7 UniProtKB/Swiss-Prot
  Q9UQ15 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 RAB3GAP2  RAB3 GTPase activating non-catalytic protein subunit 2    RAB3 GTPase activating protein subunit 2 (non-catalytic)  Symbol and/or name change 5135510 APPROVED