ARFGEF1 (ARF guanine nucleotide exchange factor 1) - Rat Genome Database

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Gene: ARFGEF1 (ARF guanine nucleotide exchange factor 1) Homo sapiens
Analyze
Symbol: ARFGEF1
Name: ARF guanine nucleotide exchange factor 1 (Ensembl:ADP ribosylation factor guanine nucleotide exchange factor 1)
RGD ID: 1348298
HGNC Page HGNC:15772
Description: Enables guanyl-nucleotide exchange factor activity; myosin binding activity; and protein kinase A regulatory subunit binding activity. Involved in several processes, including negative regulation of GTPase activity; negative regulation of actin filament polymerization; and positive regulation of wound healing. Acts upstream of with a positive effect on protein glycosylation. Located in several cellular components, including Golgi membrane; nuclear lumen; and perinuclear region of cytoplasm. Part of small nuclear ribonucleoprotein complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ADP ribosylation factor guanine nucleotide exchange factor 1; ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited); ADP-ribosylation factor guanine nucleotide-exchange factor 1(brefeldin A-inhibited); ARFGEP1; BIG1; brefeldin A-inhibited GEP 1; brefeldin A-inhibited guanine nucleotide-exchange protein 1; D730028O18Rik; DEDISB; DKFZP434L057; P200; p200 ARF guanine nucleotide exchange factor; p200 ARF-GEP1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38867,173,511 - 67,343,781 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl867,173,511 - 67,343,781 (-)EnsemblGRCh38hg38GRCh38
GRCh37868,085,746 - 68,256,016 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36868,272,451 - 68,418,466 (-)NCBINCBI36Build 36hg18NCBI36
Build 34868,272,450 - 68,418,466NCBI
Celera864,103,297 - 64,249,319 (-)NCBICelera
Cytogenetic Map8q13.2NCBI
HuRef863,601,813 - 63,748,371 (-)NCBIHuRef
CHM1_1868,165,896 - 68,311,968 (-)NCBICHM1_1
T2T-CHM13v2.0867,599,967 - 67,770,273 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889548   PMID:8917509   PMID:10212200   PMID:10393931   PMID:10716990   PMID:11013081   PMID:12571360   PMID:12606707   PMID:14702039   PMID:14973189   PMID:15644318   PMID:16417406  
PMID:16467138   PMID:16866877   PMID:17079330   PMID:17081983   PMID:17227842   PMID:17360629   PMID:18003980   PMID:18029348   PMID:18203920   PMID:18292223   PMID:18417613   PMID:18832381  
PMID:19020088   PMID:19332778   PMID:19651892   PMID:20360857   PMID:20379614   PMID:20668708   PMID:20818722   PMID:21871176   PMID:21873635   PMID:22084092   PMID:22190034   PMID:23220274  
PMID:23386609   PMID:23572552   PMID:23918382   PMID:23956138   PMID:25060954   PMID:25921289   PMID:26186194   PMID:26831064   PMID:27162341   PMID:27373159   PMID:27834853   PMID:28514442  
PMID:29507755   PMID:29568061   PMID:30021884   PMID:30639242   PMID:31073040   PMID:31091453   PMID:31199673   PMID:31240132   PMID:31594818   PMID:31932471   PMID:32393512   PMID:32415087  
PMID:32513696   PMID:32687490   PMID:32971831   PMID:33637726   PMID:33845483   PMID:33961781   PMID:34079125   PMID:34113008   PMID:34349018   PMID:34432599   PMID:35048795   PMID:35271311  
PMID:35696571   PMID:35831314   PMID:35844135   PMID:35973513   PMID:36180527   PMID:36215168   PMID:36652389   PMID:37232246   PMID:37314216   PMID:37827155   PMID:38569033  


Genomics

Comparative Map Data
ARFGEF1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38867,173,511 - 67,343,781 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl867,173,511 - 67,343,781 (-)EnsemblGRCh38hg38GRCh38
GRCh37868,085,746 - 68,256,016 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36868,272,451 - 68,418,466 (-)NCBINCBI36Build 36hg18NCBI36
Build 34868,272,450 - 68,418,466NCBI
Celera864,103,297 - 64,249,319 (-)NCBICelera
Cytogenetic Map8q13.2NCBI
HuRef863,601,813 - 63,748,371 (-)NCBIHuRef
CHM1_1868,165,896 - 68,311,968 (-)NCBICHM1_1
T2T-CHM13v2.0867,599,967 - 67,770,273 (-)NCBIT2T-CHM13v2.0
Arfgef1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39110,207,732 - 10,303,306 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl110,207,796 - 10,302,895 (-)EnsemblGRCm39 Ensembl
GRCm38110,137,507 - 10,232,670 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl110,137,571 - 10,232,670 (-)EnsemblGRCm38mm10GRCm38
MGSCv37110,127,588 - 10,222,751 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36110,122,721 - 10,218,159 (-)NCBIMGSCv36mm8
Celera110,111,100 - 10,206,279 (-)NCBICelera
Cytogenetic Map1A2NCBI
cM Map12.36NCBI
Arfgef1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8513,764,507 - 13,859,237 (+)NCBIGRCr8
mRatBN7.258,982,061 - 9,076,326 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl58,981,540 - 9,076,326 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx511,137,964 - 11,230,261 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0512,761,387 - 12,855,480 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0512,472,621 - 12,564,922 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.058,666,046 - 8,760,458 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl58,666,200 - 8,760,458 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0513,474,381 - 13,568,680 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.458,498,644 - 8,592,918 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera58,494,495 - 8,587,878 (+)NCBICelera
Cytogenetic Map5q11NCBI
Arfgef1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544411,986,595 - 12,110,172 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495544411,986,595 - 12,110,172 (+)NCBIChiLan1.0ChiLan1.0
ARFGEF1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2782,934,778 - 83,078,661 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1858,577,096 - 58,720,869 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0863,740,512 - 63,884,189 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1865,402,117 - 65,546,014 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl865,403,386 - 65,545,789 (-)Ensemblpanpan1.1panPan2
ARFGEF1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12916,712,872 - 16,852,478 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2916,708,820 - 16,852,844 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2917,028,251 - 17,168,331 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02916,793,854 - 16,933,903 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2916,793,352 - 16,934,175 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12916,825,243 - 16,966,723 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02916,925,119 - 17,065,181 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02917,182,796 - 17,322,945 (-)NCBIUU_Cfam_GSD_1.0
Arfgef1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530367,870,517 - 67,978,189 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364966,807,403 - 6,914,987 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364966,807,388 - 6,914,960 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ARFGEF1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl467,465,529 - 67,613,611 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1467,465,517 - 67,613,611 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2473,526,804 - 73,674,463 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ARFGEF1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1863,058,504 - 63,204,238 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl863,057,200 - 63,204,292 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603978,298,523 - 78,446,510 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Arfgef1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474424,011,136 - 24,143,202 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474424,010,609 - 24,144,474 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ARFGEF1
375 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006421.5(ARFGEF1):c.2392G>A (p.Asp798Asn) single nucleotide variant Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV002276680]|Global developmental delay [RCV001290721] Chr8:67258134 [GRCh38]
Chr8:68170369 [GRCh37]
Chr8:8q13.2		 pathogenic|likely pathogenic
NM_001382391.1(CSPP1):c.3221-2A>G single nucleotide variant not provided [RCV000722928] Chr8:67190648 [GRCh38]
Chr8:68102883 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3156+6C>T single nucleotide variant CSPP1-related disorder [RCV004757390]|Inborn genetic diseases [RCV002564113]|Joubert syndrome 21 [RCV001246867] Chr8:67177732 [GRCh38]
Chr8:68089967 [GRCh37]
Chr8:8q13.2		 likely benign|uncertain significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3 copy number gain See cases [RCV000053653] Chr8:57361243..79170078 [GRCh38]
Chr8:58273802..80082313 [GRCh37]
Chr8:58436356..80244868 [NCBI36]
Chr8:8q12.1-21.13		 pathogenic
GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3 copy number gain See cases [RCV000053654] Chr8:61691800..82537696 [GRCh38]
Chr8:62604359..83449931 [GRCh37]
Chr8:62766913..83612486 [NCBI36]
Chr8:8q12.3-21.13		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q12.3-21.11(chr8:62230636-73227786)x1 copy number loss See cases [RCV000054242] Chr8:62230636..73227786 [GRCh38]
Chr8:63143195..74140021 [GRCh37]
Chr8:63305749..74302575 [NCBI36]
Chr8:8q12.3-21.11		 pathogenic
NM_024790.6(CSPP1):c.3512G>A (p.Gly1171Glu) single nucleotide variant Malignant melanoma [RCV000068372] Chr8:67195439 [GRCh38]
Chr8:68107674 [GRCh37]
Chr8:68270228 [NCBI36]
Chr8:8q13.2		 not provided
NM_001382391.1(CSPP1):c.3227dup (p.Tyr1076Ter) duplication Joubert syndrome 21 [RCV000087069] Chr8:67190655..67190656 [GRCh38]
Chr8:68102890..68102891 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.3292C>T (p.Arg1098Trp) single nucleotide variant Joubert syndrome 21 [RCV001332557] Chr8:67190721 [GRCh38]
Chr8:68102956 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.5320C>T (p.Arg1774Ter) single nucleotide variant Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV002276681]|Global developmental delay [RCV001290722]|Global developmental delay [RCV001780236]|not provided [RCV003225175] Chr8:67200461 [GRCh38]
Chr8:68112696 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_006421.5(ARFGEF1):c.2158del (p.Leu720fs) deletion Global developmental delay [RCV001290724] Chr8:67259892 [GRCh38]
Chr8:68172127 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_006421.5(ARFGEF1):c.4033C>T (p.Arg1345Ter) single nucleotide variant Global developmental delay [RCV001290730]|not provided [RCV004727082] Chr8:67226067 [GRCh38]
Chr8:68138302 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.3220+1G>A single nucleotide variant Joubert syndrome 21 [RCV000201570] Chr8:67179927 [GRCh38]
Chr8:68092162 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.3425G>A (p.Arg1142Gln) single nucleotide variant Inborn genetic diseases [RCV003191805] Chr8:67193558 [GRCh38]
Chr8:68105793 [GRCh37]
Chr8:8q13.2		 uncertain significance
GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3 copy number gain See cases [RCV000133720] Chr8:46031334..69303787 [GRCh38]
Chr8:46942956..70216022 [GRCh37]
Chr8:47062121..70378576 [NCBI36]
Chr8:8q11.1-13.2		 pathogenic
GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3 copy number gain See cases [RCV000137050] Chr8:66171669..93505509 [GRCh38]
Chr8:67083904..94517737 [GRCh37]
Chr8:67246458..94586913 [NCBI36]
Chr8:8q13.1-22.1		 pathogenic
GRCh38/hg38 8q13.1-21.13(chr8:66633845-80100089)x3 copy number gain See cases [RCV000138027] Chr8:66633845..80100089 [GRCh38]
Chr8:67546080..81012324 [GRCh37]
Chr8:67708634..81174879 [NCBI36]
Chr8:8q13.1-21.13		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3		 pathogenic
GRCh38/hg38 8q13.1-13.2(chr8:66968881-67271875)x3 copy number gain See cases [RCV000141417] Chr8:66968881..67271875 [GRCh38]
Chr8:67881116..68184110 [GRCh37]
Chr8:68043670..68346664 [NCBI36]
Chr8:8q13.1-13.2		 uncertain significance
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
NM_006421.5(ARFGEF1):c.2699-1G>T single nucleotide variant Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV003314386] Chr8:67251451 [GRCh38]
Chr8:68163686 [GRCh37]
Chr8:8q13.2		 likely pathogenic
NM_001382391.1(CSPP1):c.3395_3397del (p.Val1132del) deletion Joubert syndrome 21 [RCV001315988]|not provided [RCV000488973] Chr8:67193526..67193528 [GRCh38]
Chr8:68105761..68105763 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3466dup (p.Thr1156fs) duplication Joubert syndrome 21 [RCV002531117]|not provided [RCV000598647] Chr8:67193598..67193599 [GRCh38]
Chr8:68105833..68105834 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3530C>T (p.Ser1177Leu) single nucleotide variant Inborn genetic diseases [RCV003189922] Chr8:67195442 [GRCh38]
Chr8:68107677 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3570_3572dup (p.Ser1191dup) duplication not provided [RCV000723134] Chr8:67195480..67195481 [GRCh38]
Chr8:68107715..68107716 [GRCh37]
Chr8:8q13.2		 uncertain significance
GRCh37/hg19 8q13.2(chr8:68041907-68464647)x3 copy number gain See cases [RCV000454319] Chr8:68041907..68464647 [GRCh37]
Chr8:8q13.2		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_001382391.1(CSPP1):c.3405T>G (p.Leu1135=) single nucleotide variant CSPP1-related disorder [RCV003925290]|Joubert syndrome 21 [RCV000950923]|not provided [RCV003431007]|not specified [RCV000420814] Chr8:67193538 [GRCh38]
Chr8:68105773 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3220+13A>G single nucleotide variant Joubert syndrome 21 [RCV001512555]|not provided [RCV004712806]|not specified [RCV000432453] Chr8:67179939 [GRCh38]
Chr8:68092174 [GRCh37]
Chr8:8q13.2		 benign
NM_001382391.1(CSPP1):c.3313T>C (p.Trp1105Arg) single nucleotide variant Joubert syndrome 21 [RCV000550141]|not provided [RCV004712788]|not specified [RCV000432483] Chr8:67190742 [GRCh38]
Chr8:68102977 [GRCh37]
Chr8:8q13.2		 benign
NM_001382391.1(CSPP1):c.3138A>G (p.Lys1046=) single nucleotide variant Joubert syndrome 21 [RCV000535434]|not provided [RCV004712797]|not specified [RCV000439471] Chr8:67177708 [GRCh38]
Chr8:68089943 [GRCh37]
Chr8:8q13.2		 benign
NM_001382391.1(CSPP1):c.3431G>A (p.Arg1144Gln) single nucleotide variant Inborn genetic diseases [RCV002524742]|Joubert syndrome 21 [RCV001308223]|not provided [RCV000426272] Chr8:67193564 [GRCh38]
Chr8:68105799 [GRCh37]
Chr8:8q13.2		 uncertain significance
GRCh37/hg19 8q12.3-13.2(chr8:65194424-68570319)x1 copy number loss See cases [RCV000445999] Chr8:65194424..68570319 [GRCh37]
Chr8:8q12.3-13.2		 pathogenic
NM_001382391.1(CSPP1):c.3493C>T (p.Pro1165Ser) single nucleotide variant CSPP1-related disorder [RCV003922770]|Joubert syndrome 21 [RCV000560276]|not provided [RCV000440178] Chr8:67195405 [GRCh38]
Chr8:68107640 [GRCh37]
Chr8:8q13.2		 benign|likely benign
NM_001382391.1(CSPP1):c.3285C>T (p.Pro1095=) single nucleotide variant CSPP1-related disorder [RCV003912655]|Joubert syndrome 21 [RCV000945690]|not provided [RCV001703618]|not specified [RCV000437529] Chr8:67190714 [GRCh38]
Chr8:68102949 [GRCh37]
Chr8:8q13.2		 benign|likely benign
NM_001382391.1(CSPP1):c.3110-1G>A single nucleotide variant Joubert syndrome 21 [RCV003583161]|not provided [RCV000483022] Chr8:67177679 [GRCh38]
Chr8:68089914 [GRCh37]
Chr8:8q13.2		 likely pathogenic
NM_001382391.1(CSPP1):c.*6A>G single nucleotide variant not provided [RCV004691799]|not specified [RCV000499657] Chr8:67195599 [GRCh38]
Chr8:68107834 [GRCh37]
Chr8:8q13.2		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_001382391.1(CSPP1):c.3245C>T (p.Ala1082Val) single nucleotide variant Joubert syndrome 21 [RCV002524083]|not provided [RCV000498042] Chr8:67190674 [GRCh38]
Chr8:68102909 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3165T>C (p.Asp1055=) single nucleotide variant Joubert syndrome 21 [RCV000878340]|not provided [RCV001537808]|not specified [RCV000502767] Chr8:67179871 [GRCh38]
Chr8:68092106 [GRCh37]
Chr8:8q13.2		 benign|likely benign
NM_001382391.1(CSPP1):c.3647T>A (p.Phe1216Tyr) single nucleotide variant not provided [RCV000493427] Chr8:67195559 [GRCh38]
Chr8:68107794 [GRCh37]
Chr8:8q13.2		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_006421.5(ARFGEF1):c.4574A>G (p.Asn1525Ser) single nucleotide variant Inborn genetic diseases [RCV003289870] Chr8:67217821 [GRCh38]
Chr8:68130056 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3109+18C>T single nucleotide variant Joubert syndrome 21 [RCV001520141]|not specified [RCV000615664] Chr8:67175454 [GRCh38]
Chr8:68087689 [GRCh37]
Chr8:8q13.2		 benign|likely benign
NM_001382391.1(CSPP1):c.3110-11A>G single nucleotide variant Joubert syndrome 21 [RCV001512201]|not provided [RCV004712907]|not specified [RCV000612679] Chr8:67177669 [GRCh38]
Chr8:68089904 [GRCh37]
Chr8:8q13.2		 benign
NM_001382391.1(CSPP1):c.3296A>G (p.Glu1099Gly) single nucleotide variant CSPP1-related disorder [RCV003935669]|Global developmental delay [RCV000735303]|Joubert syndrome 21 [RCV000714686]|not provided [RCV001718897] Chr8:67190725 [GRCh38]
Chr8:68102960 [GRCh37]
Chr8:8q13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006421.5(ARFGEF1):c.4667C>T (p.Pro1556Leu) single nucleotide variant Inborn genetic diseases [RCV003277845] Chr8:67216609 [GRCh38]
Chr8:68128844 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3470-20G>T single nucleotide variant Joubert syndrome 21 [RCV001513877]|not specified [RCV000604720] Chr8:67195362 [GRCh38]
Chr8:68107597 [GRCh37]
Chr8:8q13.2		 benign|likely benign
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3		 pathogenic
NM_001382391.1(CSPP1):c.3221-19C>T single nucleotide variant Joubert syndrome 21 [RCV003767594]|not specified [RCV000601091] Chr8:67190631 [GRCh38]
Chr8:68102866 [GRCh37]
Chr8:8q13.2		 likely benign
GRCh37/hg19 8q13.2(chr8:68038759-68245969)x3 copy number gain not provided [RCV000682943] Chr8:68038759..68245969 [GRCh37]
Chr8:8q13.2		 uncertain significance
GRCh37/hg19 8q13.2(chr8:68174995-68230922)x1 copy number loss not provided [RCV000682914] Chr8:68174995..68230922 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3509_3512dup (p.His1171fs) duplication Joubert syndrome 21 [RCV000687761] Chr8:67195419..67195420 [GRCh38]
Chr8:68107654..68107655 [GRCh37]
Chr8:8q13.2		 uncertain significance
NC_000008.10:g.(?_68024187)_(68107848_?)dup duplication Joubert syndrome 21 [RCV000708130] Chr8:67111952..67195613 [GRCh38]
Chr8:68024187..68107848 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3455_3460del (p.Lys1152_Pro1153del) deletion not provided [RCV000722367] Chr8:67193586..67193591 [GRCh38]
Chr8:68105821..68105826 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3109+39C>T single nucleotide variant not provided [RCV001571276] Chr8:67175475 [GRCh38]
Chr8:68087710 [GRCh37]
Chr8:8q13.2		 likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q13.2(chr8:68137315-68161638)x1 copy number loss not provided [RCV000747627] Chr8:68137315..68161638 [GRCh37]
Chr8:8q13.2		 benign
GRCh37/hg19 8q13.2(chr8:68158038-68161638)x1 copy number loss not provided [RCV000747628] Chr8:68158038..68161638 [GRCh37]
Chr8:8q13.2		 benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_001382391.1(CSPP1):c.3638C>G (p.Pro1213Arg) single nucleotide variant Joubert syndrome 21 [RCV001044562] Chr8:67195550 [GRCh38]
Chr8:68107785 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3188A>G (p.Asn1063Ser) single nucleotide variant Inborn genetic diseases [RCV002555852]|Joubert syndrome 21 [RCV001066592]|not provided [RCV002274133] Chr8:67179894 [GRCh38]
Chr8:68092129 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3221-254G>C single nucleotide variant not provided [RCV001551943] Chr8:67190396 [GRCh38]
Chr8:68102631 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3331-220G>A single nucleotide variant not provided [RCV001567974] Chr8:67193244 [GRCh38]
Chr8:68105479 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3221-272A>G single nucleotide variant not provided [RCV001709308] Chr8:67190378 [GRCh38]
Chr8:68102613 [GRCh37]
Chr8:8q13.2		 benign
NM_001382391.1(CSPP1):c.3578C>T (p.Thr1193Met) single nucleotide variant CSPP1-related disorder [RCV003903159]|Joubert syndrome 21 [RCV000946259] Chr8:67195490 [GRCh38]
Chr8:68107725 [GRCh37]
Chr8:8q13.2		 likely benign
NM_006421.5(ARFGEF1):c.4968G>A (p.Ala1656=) single nucleotide variant not provided [RCV000967090] Chr8:67203243 [GRCh38]
Chr8:68115478 [GRCh37]
Chr8:8q13.2		 benign
NM_006421.5(ARFGEF1):c.4131G>A (p.Val1377=) single nucleotide variant not provided [RCV000967091] Chr8:67224980 [GRCh38]
Chr8:68137215 [GRCh37]
Chr8:8q13.2		 benign
NM_001382391.1(CSPP1):c.3655C>G (p.Gln1219Glu) single nucleotide variant Inborn genetic diseases [RCV004609607]|Joubert syndrome 21 [RCV001062425] Chr8:67195567 [GRCh38]
Chr8:68107802 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3275C>T (p.Ser1092Leu) single nucleotide variant Inborn genetic diseases [RCV004031271]|Joubert syndrome 21 [RCV001042057]|not provided [RCV004693484] Chr8:67190704 [GRCh38]
Chr8:68102939 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3157C>T (p.Pro1053Ser) single nucleotide variant Inborn genetic diseases [RCV002554549]|Joubert syndrome 21 [RCV001068552] Chr8:67179863 [GRCh38]
Chr8:68092098 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3106A>G (p.Lys1036Glu) single nucleotide variant Joubert syndrome 21 [RCV001054269]|not provided [RCV001759797] Chr8:67175433 [GRCh38]
Chr8:68087668 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3675T>C (p.His1225=) single nucleotide variant not provided [RCV000945946] Chr8:67195587 [GRCh38]
Chr8:68107822 [GRCh37]
Chr8:8q13.2		 likely benign
NM_006421.5(ARFGEF1):c.330G>A (p.Gly110=) single nucleotide variant not provided [RCV000972592] Chr8:67299338 [GRCh38]
Chr8:68211573 [GRCh37]
Chr8:8q13.2		 benign|likely benign
NM_006421.5(ARFGEF1):c.796G>T (p.Asp266Tyr) single nucleotide variant not provided [RCV000955187] Chr8:67291967 [GRCh38]
Chr8:68204202 [GRCh37]
Chr8:8q13.2		 likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_001382391.1(CSPP1):c.3470-187C>G single nucleotide variant not provided [RCV000832148] Chr8:67195195 [GRCh38]
Chr8:68107430 [GRCh37]
Chr8:8q13.2		 benign
NM_001382391.1(CSPP1):c.3331-37G>A single nucleotide variant not provided [RCV000839323] Chr8:67193427 [GRCh38]
Chr8:68105662 [GRCh37]
Chr8:8q13.2		 likely benign
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3		 pathogenic
GRCh37/hg19 8q13.1-13.2(chr8:67780228-68161496)x3 copy number gain not provided [RCV000848585] Chr8:67780228..68161496 [GRCh37]
Chr8:8q13.1-13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3029C>G (p.Thr1010Ser) single nucleotide variant Joubert syndrome 21 [RCV001206212]|not provided [RCV003117844] Chr8:67175356 [GRCh38]
Chr8:68087591 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3050C>T (p.Ala1017Val) single nucleotide variant Joubert syndrome 21 [RCV001243429] Chr8:67175377 [GRCh38]
Chr8:68087612 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3603G>C (p.Gln1201His) single nucleotide variant Joubert syndrome 21 [RCV001243477] Chr8:67195515 [GRCh38]
Chr8:68107750 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.2650A>G (p.Met884Val) single nucleotide variant ARFGEF1-related disorder [RCV003396488]|Inborn genetic diseases [RCV003243354]|not provided [RCV000850381] Chr8:67253499 [GRCh38]
Chr8:68165734 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.4586A>C (p.Asp1529Ala) single nucleotide variant Inborn genetic diseases [RCV003290214] Chr8:67217809 [GRCh38]
Chr8:68130044 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.2482G>A (p.Ala828Thr) single nucleotide variant not provided [RCV003313617] Chr8:67257776 [GRCh38]
Chr8:68170011 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.1696T>G (p.Tyr566Asp) single nucleotide variant Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV004784987] Chr8:67267207 [GRCh38]
Chr8:68179442 [GRCh37]
Chr8:8q13.2		 uncertain significance
NC_000008.11:g.(?_67111972)_(67218138_?)dup duplication Joubert syndrome 21 [RCV001032443] Chr8:68024207..68130373 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3221-138G>A single nucleotide variant not provided [RCV001577408] Chr8:67190512 [GRCh38]
Chr8:68102747 [GRCh37]
Chr8:8q13.2		 likely benign
NM_006421.5(ARFGEF1):c.2527-1G>A single nucleotide variant Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV004813367] Chr8:67253623 [GRCh38]
Chr8:68165858 [GRCh37]		 likely pathogenic
NM_001382391.1(CSPP1):c.3469+162C>T single nucleotide variant not provided [RCV001565555] Chr8:67193764 [GRCh38]
Chr8:68105999 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3461T>C (p.Ile1154Thr) single nucleotide variant Inborn genetic diseases [RCV003290761] Chr8:67193594 [GRCh38]
Chr8:68105829 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3425G>C (p.Arg1142Pro) single nucleotide variant Inborn genetic diseases [RCV003262714] Chr8:67193558 [GRCh38]
Chr8:68105793 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.207A>G (p.Lys69=) single nucleotide variant not provided [RCV000931757] Chr8:67301329 [GRCh38]
Chr8:68213564 [GRCh37]
Chr8:8q13.2		 benign
NM_001382391.1(CSPP1):c.3404T>G (p.Leu1135Arg) single nucleotide variant Joubert syndrome 21 [RCV000960785] Chr8:67193537 [GRCh38]
Chr8:68105772 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3331-2A>G single nucleotide variant Joubert syndrome 21 [RCV001231245] Chr8:67193462 [GRCh38]
Chr8:68105697 [GRCh37]
Chr8:8q13.2		 likely pathogenic
NM_006421.5(ARFGEF1):c.294A>C (p.Thr98=) single nucleotide variant not provided [RCV000956639] Chr8:67301242 [GRCh38]
Chr8:68213477 [GRCh37]
Chr8:8q13.2		 benign
NM_006421.5(ARFGEF1):c.2784C>T (p.Ala928=) single nucleotide variant not provided [RCV000956637] Chr8:67251365 [GRCh38]
Chr8:68163600 [GRCh37]
Chr8:8q13.2		 benign
NM_006421.5(ARFGEF1):c.1572+4C>T single nucleotide variant not provided [RCV000956638] Chr8:67271698 [GRCh38]
Chr8:68183933 [GRCh37]
Chr8:8q13.2		 benign
NM_006421.5(ARFGEF1):c.4365C>T (p.Cys1455=) single nucleotide variant not provided [RCV000935026] Chr8:67218112 [GRCh38]
Chr8:68130347 [GRCh37]
Chr8:8q13.2		 benign
NM_006421.5(ARFGEF1):c.3151A>T (p.Ile1051Phe) single nucleotide variant not provided [RCV003231995] Chr8:67238481 [GRCh38]
Chr8:68150716 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.5340dup (p.Leu1781fs) duplication not provided [RCV003108260] Chr8:67200440..67200441 [GRCh38]
Chr8:68112675..68112676 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.*166G>A single nucleotide variant not provided [RCV001547348] Chr8:67195759 [GRCh38]
Chr8:68107994 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3469+163A>G single nucleotide variant not provided [RCV001556378] Chr8:67193765 [GRCh38]
Chr8:68106000 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3464A>G (p.Asn1155Ser) single nucleotide variant Inborn genetic diseases [RCV003304220] Chr8:67193597 [GRCh38]
Chr8:68105832 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.4257T>G (p.Tyr1419Ter) single nucleotide variant Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV002467423] Chr8:67219512 [GRCh38]
Chr8:68131747 [GRCh37]
Chr8:8q13.2		 likely pathogenic
NM_001382391.1(CSPP1):c.3330+238T>G single nucleotide variant not provided [RCV001596249] Chr8:67190997 [GRCh38]
Chr8:68103232 [GRCh37]
Chr8:8q13.2		 benign
NM_001382391.1(CSPP1):c.3331-94C>T single nucleotide variant not provided [RCV001678287] Chr8:67193370 [GRCh38]
Chr8:68105605 [GRCh37]
Chr8:8q13.2		 benign
NM_001382391.1(CSPP1):c.2987A>C (p.Asp996Ala) single nucleotide variant Inborn genetic diseases [RCV002552611]|Joubert syndrome 21 [RCV001046893] Chr8:67175314 [GRCh38]
Chr8:68087549 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.4687-10del deletion not provided [RCV001707336] Chr8:67211625 [GRCh38]
Chr8:68123860 [GRCh37]
Chr8:8q13.2		 benign
NM_001382391.1(CSPP1):c.2969-113A>G single nucleotide variant not provided [RCV001582985] Chr8:67175183 [GRCh38]
Chr8:68087418 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3220+110dup duplication not provided [RCV001690292] Chr8:67180023..67180024 [GRCh38]
Chr8:68092258..68092259 [GRCh37]
Chr8:8q13.2		 benign
NM_001382391.1(CSPP1):c.3220+108_3220+110del deletion not provided [RCV001614600] Chr8:67180024..67180026 [GRCh38]
Chr8:68092259..68092261 [GRCh37]
Chr8:8q13.2		 benign
NM_001382391.1(CSPP1):c.3452A>G (p.Asn1151Ser) single nucleotide variant Inborn genetic diseases [RCV003283934]|Joubert syndrome 21 [RCV001059985] Chr8:67193585 [GRCh38]
Chr8:68105820 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3011C>T (p.Pro1004Leu) single nucleotide variant Joubert syndrome 21 [RCV001060348] Chr8:67175338 [GRCh38]
Chr8:68087573 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2981G>A (p.Arg994Gln) single nucleotide variant Joubert syndrome 21 [RCV001208673]|not provided [RCV001799743] Chr8:67175308 [GRCh38]
Chr8:68087543 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3109G>A (p.Val1037Ile) single nucleotide variant Inborn genetic diseases [RCV002552064]|Joubert syndrome 21 [RCV001034776]|not provided [RCV003432994] Chr8:67175436 [GRCh38]
Chr8:68087671 [GRCh37]
Chr8:8q13.2		 likely benign|uncertain significance
GRCh37/hg19 8q13.1-13.2(chr8:67744375-68387850)x3 copy number gain not provided [RCV001258413] Chr8:67744375..68387850 [GRCh37]
Chr8:8q13.1-13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.4207A>G (p.Arg1403Gly) single nucleotide variant not provided [RCV002280524] Chr8:67224904 [GRCh38]
Chr8:68137139 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3341G>A (p.Arg1114His) single nucleotide variant Joubert syndrome 21 [RCV001262917]|not provided [RCV001773578] Chr8:67193474 [GRCh38]
Chr8:68105709 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.3592-2A>G single nucleotide variant Global developmental delay [RCV001290723] Chr8:67227600 [GRCh38]
Chr8:68139835 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_006421.5(ARFGEF1):c.1082T>G (p.Ile361Arg) single nucleotide variant not provided [RCV004814586] Chr8:67277403 [GRCh38]
Chr8:68189638 [GRCh37]		 uncertain significance
NM_001382391.1(CSPP1):c.3653G>C (p.Trp1218Ser) single nucleotide variant Joubert syndrome 21 [RCV001301361] Chr8:67195565 [GRCh38]
Chr8:68107800 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3361G>A (p.Gly1121Ser) single nucleotide variant Joubert syndrome 21 [RCV001305709] Chr8:67193494 [GRCh38]
Chr8:68105729 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.2524C>T (p.Gln842Ter) single nucleotide variant DEVELOPMENTAL DELAY, IMPAIRED SPEECH, BEHAVIORAL ABNORMALITIES, AND SEIZURES [RCV002276679]|Seizure [RCV001290121] Chr8:67257734 [GRCh38]
Chr8:68169969 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.3040C>A (p.Gln1014Lys) single nucleotide variant Joubert syndrome 21 [RCV001340212] Chr8:67175367 [GRCh38]
Chr8:68087602 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.2923_2924dup (p.Cys976fs) microsatellite Global developmental delay [RCV001290725] Chr8:67240216..67240217 [GRCh38]
Chr8:68152451..68152452 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_006421.5(ARFGEF1):c.1006del (p.Met336fs) deletion DEVELOPMENTAL DELAY, IMPAIRED SPEECH, BEHAVIORAL ABNORMALITIES, AND SEIZURES [RCV002276682]|Global developmental delay [RCV001290727] Chr8:67287976 [GRCh38]
Chr8:68200211 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.3520G>C (p.Asp1174His) single nucleotide variant Joubert syndrome 21 [RCV001325759] Chr8:67195432 [GRCh38]
Chr8:68107667 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.*3_*6dup (p.Ter1227=) duplication Joubert syndrome 21 [RCV001324825] Chr8:67195592..67195593 [GRCh38]
Chr8:68107827..68107828 [GRCh37]
Chr8:8q13.2		 uncertain significance
NC_000008.10:g.(?_68024207)_(68130373_?)dup duplication Joubert syndrome 21 [RCV001305615] Chr8:68024207..68130373 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.2395C>T (p.Arg799Ter) single nucleotide variant Global developmental delay [RCV001290726] Chr8:67258131 [GRCh38]
Chr8:68170366 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_006421.5(ARFGEF1):c.3697C>T (p.Gln1233Ter) single nucleotide variant Global developmental delay [RCV001290729] Chr8:67227493 [GRCh38]
Chr8:68139728 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.3579G>A (p.Thr1193=) single nucleotide variant Joubert syndrome 21 [RCV001392648] Chr8:67195491 [GRCh38]
Chr8:68107726 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3472dup (p.Asp1158fs) duplication Joubert syndrome 21 [RCV001323878] Chr8:67195383..67195384 [GRCh38]
Chr8:68107618..68107619 [GRCh37]
Chr8:8q13.2		 uncertain significance
NC_000008.11:g.67195383TGA[3] microsatellite Joubert syndrome 21 [RCV001362942] Chr8:67195380..67195381 [GRCh38]
Chr8:68107615..68107616 [GRCh37]
Chr8:8q13.2		 uncertain significance
NC_000008.10:g.(?_67786376)_(68165857_?)dup duplication Joubert syndrome 21 [RCV001346674] Chr8:67786376..68165857 [GRCh37]
Chr8:8q13.1-13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3355C>A (p.Pro1119Thr) single nucleotide variant Joubert syndrome 21 [RCV001361294] Chr8:67193488 [GRCh38]
Chr8:68105723 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3587G>A (p.Arg1196His) single nucleotide variant Inborn genetic diseases [RCV003169682]|Joubert syndrome 21 [RCV001346130] Chr8:67195499 [GRCh38]
Chr8:68107734 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.1942C>T (p.Gln648Ter) single nucleotide variant Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV002276683]|Global developmental delay [RCV001290728] Chr8:67266187 [GRCh38]
Chr8:68178422 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.3496G>C (p.Asp1166His) single nucleotide variant Joubert syndrome 21 [RCV001351278] Chr8:67195408 [GRCh38]
Chr8:68107643 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3533_3536dup (p.Val1180fs) duplication Joubert syndrome 21 [RCV001343033] Chr8:67195444..67195445 [GRCh38]
Chr8:68107679..68107680 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3040C>G (p.Gln1014Glu) single nucleotide variant Joubert syndrome 21 [RCV001363778] Chr8:67175367 [GRCh38]
Chr8:68087602 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3529T>G (p.Ser1177Ala) single nucleotide variant Joubert syndrome 21 [RCV001350382]|not provided [RCV002545627] Chr8:67195441 [GRCh38]
Chr8:68107676 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3613G>C (p.Glu1205Gln) single nucleotide variant Joubert syndrome 21 [RCV001371159] Chr8:67195525 [GRCh38]
Chr8:68107760 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3109+5G>C single nucleotide variant Joubert syndrome 21 [RCV001365710] Chr8:67175441 [GRCh38]
Chr8:68087676 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2980C>T (p.Arg994Ter) single nucleotide variant Joubert syndrome 21 [RCV001380746] Chr8:67175307 [GRCh38]
Chr8:68087542 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.3157-15A>G single nucleotide variant Joubert syndrome 21 [RCV001475486] Chr8:67179848 [GRCh38]
Chr8:68092083 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3156+16C>A single nucleotide variant Joubert syndrome 21 [RCV001436807] Chr8:67177742 [GRCh38]
Chr8:68089977 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3406_3407insTATA (p.Arg1136delinsIleTer) microsatellite Joubert syndrome 21 [RCV001385755] Chr8:67193537..67193538 [GRCh38]
Chr8:68105772..68105773 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.3330+237C>T single nucleotide variant not provided [RCV001717242] Chr8:67190996 [GRCh38]
Chr8:68103231 [GRCh37]
Chr8:8q13.2		 benign
NM_001382391.1(CSPP1):c.2969-252A>G single nucleotide variant not provided [RCV001686288] Chr8:67175044 [GRCh38]
Chr8:68087279 [GRCh37]
Chr8:8q13.2		 benign
NM_001382391.1(CSPP1):c.3661C>T (p.Leu1221=) single nucleotide variant Joubert syndrome 21 [RCV001441974] Chr8:67195573 [GRCh38]
Chr8:68107808 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3387T>C (p.Ser1129=) single nucleotide variant Joubert syndrome 21 [RCV001451746] Chr8:67193520 [GRCh38]
Chr8:68105755 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3331-7A>C single nucleotide variant Joubert syndrome 21 [RCV001500800] Chr8:67193457 [GRCh38]
Chr8:68105692 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3258C>T (p.Asp1086=) single nucleotide variant CSPP1-related disorder [RCV003938755]|Joubert syndrome 21 [RCV001434970] Chr8:67190687 [GRCh38]
Chr8:68102922 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3331-10C>T single nucleotide variant Joubert syndrome 21 [RCV001418830] Chr8:67193454 [GRCh38]
Chr8:68105689 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3420G>A (p.Glu1140=) single nucleotide variant Joubert syndrome 21 [RCV001462378] Chr8:67193553 [GRCh38]
Chr8:68105788 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3232G>C (p.Glu1078Gln) single nucleotide variant Joubert syndrome 21 [RCV003108844] Chr8:67190661 [GRCh38]
Chr8:68102896 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.5194C>T (p.Arg1732Cys) single nucleotide variant Neurodevelopmental disorder [RCV002273326] Chr8:67201540 [GRCh38]
Chr8:68113775 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.3736C>T (p.Arg1246Trp) single nucleotide variant ARFGEF1-related disorder [RCV004555624] Chr8:67227454 [GRCh38]
Chr8:68139689 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.1028-2A>T single nucleotide variant Focal-onset seizure [RCV001785398] Chr8:67277459 [GRCh38]
Chr8:68189694 [GRCh37]
Chr8:8q13.2		 likely pathogenic
GRCh37/hg19 8q13.1-13.2(chr8:66045954-69807260)x1 copy number loss not provided [RCV001836560] Chr8:66045954..69807260 [GRCh37]
Chr8:8q13.1-13.2		 pathogenic
NM_001382391.1(CSPP1):c.3029C>T (p.Thr1010Ile) single nucleotide variant Joubert syndrome 21 [RCV001863525] Chr8:67175356 [GRCh38]
Chr8:68087591 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3620A>G (p.Gln1207Arg) single nucleotide variant Inborn genetic diseases [RCV004612072]|Joubert syndrome 21 [RCV002008355] Chr8:67195532 [GRCh38]
Chr8:68107767 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3559C>T (p.Arg1187Cys) single nucleotide variant Joubert syndrome 21 [RCV001949923] Chr8:67195471 [GRCh38]
Chr8:68107706 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3457C>T (p.Pro1153Ser) single nucleotide variant Inborn genetic diseases [RCV002548871]|Joubert syndrome 21 [RCV002041048] Chr8:67193590 [GRCh38]
Chr8:68105825 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3518G>C (p.Gly1173Ala) single nucleotide variant Joubert syndrome 21 [RCV001965287] Chr8:67195430 [GRCh38]
Chr8:68107665 [GRCh37]
Chr8:8q13.2		 uncertain significance
GRCh37/hg19 8q12.3-13.2(chr8:65194424-68570319) copy number loss not specified [RCV002053768] Chr8:65194424..68570319 [GRCh37]
Chr8:8q12.3-13.2		 pathogenic
NM_001382391.1(CSPP1):c.3142C>T (p.Arg1048Ter) single nucleotide variant Joubert syndrome 21 [RCV001780586] Chr8:67177712 [GRCh38]
Chr8:68089947 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.3268C>T (p.Pro1090Ser) single nucleotide variant Joubert syndrome 21 [RCV001948643] Chr8:67190697 [GRCh38]
Chr8:68102932 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3478A>G (p.Ser1160Gly) single nucleotide variant Retinal dystrophy [RCV004815887] Chr8:67195390 [GRCh38]
Chr8:68107625 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3221-9T>A single nucleotide variant Joubert syndrome 21 [RCV001985675] Chr8:67190641 [GRCh38]
Chr8:68102876 [GRCh37]
Chr8:8q13.2		 likely benign|uncertain significance
NM_001382391.1(CSPP1):c.3478_3479del (p.Ser1160fs) microsatellite Joubert syndrome 21 [RCV001891970] Chr8:67195387..67195388 [GRCh38]
Chr8:68107622..68107623 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3236C>T (p.Thr1079Ile) single nucleotide variant Joubert syndrome 21 [RCV001872734] Chr8:67190665 [GRCh38]
Chr8:68102900 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3479G>C (p.Ser1160Thr) single nucleotide variant Joubert syndrome 21 [RCV001889896] Chr8:67195391 [GRCh38]
Chr8:68107626 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3229G>A (p.Gly1077Ser) single nucleotide variant Joubert syndrome 21 [RCV001823498] Chr8:67190658 [GRCh38]
Chr8:68102893 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3560G>A (p.Arg1187His) single nucleotide variant Joubert syndrome 21 [RCV001963687] Chr8:67195472 [GRCh38]
Chr8:68107707 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3415A>G (p.Asn1139Asp) single nucleotide variant Joubert syndrome 21 [RCV001943948] Chr8:67193548 [GRCh38]
Chr8:68105783 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3405_3406del (p.Arg1136fs) deletion Joubert syndrome 21 [RCV001992609] Chr8:67193538..67193539 [GRCh38]
Chr8:68105773..68105774 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.3289G>T (p.Ala1097Ser) single nucleotide variant Joubert syndrome 21 [RCV001904931] Chr8:67190718 [GRCh38]
Chr8:68102953 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3163G>C (p.Asp1055His) single nucleotide variant Inborn genetic diseases [RCV002552256]|Joubert syndrome 21 [RCV001880975] Chr8:67179869 [GRCh38]
Chr8:68092104 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3330+1G>C single nucleotide variant Joubert syndrome 21 [RCV001995648]|not provided [RCV003235646] Chr8:67190760 [GRCh38]
Chr8:68102995 [GRCh37]
Chr8:8q13.2		 likely pathogenic
NM_001382391.1(CSPP1):c.3430C>T (p.Arg1144Ter) single nucleotide variant Joubert syndrome 21 [RCV001952197] Chr8:67193563 [GRCh38]
Chr8:68105798 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3368_3371del (p.Leu1122_Ser1123insTer) microsatellite Joubert syndrome 21 [RCV001950917] Chr8:67193496..67193499 [GRCh38]
Chr8:68105731..68105734 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.3298C>T (p.Arg1100Cys) single nucleotide variant Inborn genetic diseases [RCV003164011]|Joubert syndrome 21 [RCV002029990] Chr8:67190727 [GRCh38]
Chr8:68102962 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3619C>T (p.Gln1207Ter) single nucleotide variant Joubert syndrome 21 [RCV001866536] Chr8:67195531 [GRCh38]
Chr8:68107766 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3487G>A (p.Val1163Ile) single nucleotide variant Joubert syndrome 21 [RCV001934311] Chr8:67195399 [GRCh38]
Chr8:68107634 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3428T>C (p.Met1143Thr) single nucleotide variant Joubert syndrome 21 [RCV001995913] Chr8:67193561 [GRCh38]
Chr8:68105796 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3340C>T (p.Arg1114Cys) single nucleotide variant Joubert syndrome 21 [RCV001931913] Chr8:67193473 [GRCh38]
Chr8:68105708 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3328A>T (p.Ile1110Phe) single nucleotide variant Joubert syndrome 21 [RCV001991847] Chr8:67190757 [GRCh38]
Chr8:68102992 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2986G>A (p.Asp996Asn) single nucleotide variant Joubert syndrome 21 [RCV001897346] Chr8:67175313 [GRCh38]
Chr8:68087548 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3124A>G (p.Ile1042Val) single nucleotide variant Joubert syndrome 21 [RCV001933369]|not provided [RCV003317548] Chr8:67177694 [GRCh38]
Chr8:68089929 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3382T>C (p.Ser1128Pro) single nucleotide variant Joubert syndrome 21 [RCV001900341] Chr8:67193515 [GRCh38]
Chr8:68105750 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3139G>C (p.Val1047Leu) single nucleotide variant Joubert syndrome 21 [RCV001938335] Chr8:67177709 [GRCh38]
Chr8:68089944 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3259G>A (p.Val1087Ile) single nucleotide variant Joubert syndrome 21 [RCV002046060] Chr8:67190688 [GRCh38]
Chr8:68102923 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3109+4dup duplication Joubert syndrome 21 [RCV001960878] Chr8:67175438..67175439 [GRCh38]
Chr8:68087673..68087674 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3455A>G (p.Lys1152Arg) single nucleotide variant Joubert syndrome 21 [RCV001960761] Chr8:67193588 [GRCh38]
Chr8:68105823 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3364C>T (p.Leu1122Phe) single nucleotide variant Joubert syndrome 21 [RCV001992618] Chr8:67193497 [GRCh38]
Chr8:68105732 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3221-14C>T single nucleotide variant Joubert syndrome 21 [RCV002088813] Chr8:67190636 [GRCh38]
Chr8:68102871 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3330+11G>A single nucleotide variant Joubert syndrome 21 [RCV002191271] Chr8:67190770 [GRCh38]
Chr8:68103005 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3645T>G (p.Thr1215=) single nucleotide variant Joubert syndrome 21 [RCV002107855] Chr8:67195557 [GRCh38]
Chr8:68107792 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3157-16A>G single nucleotide variant Joubert syndrome 21 [RCV002168654] Chr8:67179847 [GRCh38]
Chr8:68092082 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3576A>G (p.Glu1192=) single nucleotide variant Joubert syndrome 21 [RCV002117199] Chr8:67195488 [GRCh38]
Chr8:68107723 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3330+18C>A single nucleotide variant Joubert syndrome 21 [RCV002095290] Chr8:67190777 [GRCh38]
Chr8:68103012 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3288T>C (p.Ser1096=) single nucleotide variant Joubert syndrome 21 [RCV002211830] Chr8:67190717 [GRCh38]
Chr8:68102952 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3157-7C>T single nucleotide variant Joubert syndrome 21 [RCV002149871] Chr8:67179856 [GRCh38]
Chr8:68092091 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3588T>C (p.Arg1196=) single nucleotide variant Joubert syndrome 21 [RCV002079302] Chr8:67195500 [GRCh38]
Chr8:68107735 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3110-7A>G single nucleotide variant Joubert syndrome 21 [RCV002174058] Chr8:67177673 [GRCh38]
Chr8:68089908 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3228C>T (p.Tyr1076=) single nucleotide variant Joubert syndrome 21 [RCV002220171] Chr8:67190657 [GRCh38]
Chr8:68102892 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3435A>G (p.Arg1145=) single nucleotide variant Joubert syndrome 21 [RCV002176554] Chr8:67193568 [GRCh38]
Chr8:68105803 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3672A>C (p.Ala1224=) single nucleotide variant Joubert syndrome 21 [RCV002100278] Chr8:67195584 [GRCh38]
Chr8:68107819 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3109+20G>A single nucleotide variant Joubert syndrome 21 [RCV002179625] Chr8:67175456 [GRCh38]
Chr8:68087691 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3528A>C (p.Gly1176=) single nucleotide variant Joubert syndrome 21 [RCV002098901] Chr8:67195440 [GRCh38]
Chr8:68107675 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3015A>C (p.Pro1005=) single nucleotide variant Joubert syndrome 21 [RCV002180004] Chr8:67175342 [GRCh38]
Chr8:68087577 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3157-19del deletion Joubert syndrome 21 [RCV002159185] Chr8:67179843 [GRCh38]
Chr8:68092078 [GRCh37]
Chr8:8q13.2		 likely benign
NM_006421.5(ARFGEF1):c.3107A>G (p.Asp1036Gly) single nucleotide variant not provided [RCV004784372] Chr8:67238766 [GRCh38]
Chr8:68151001 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.2316_2317del (p.Ser773fs) deletion not provided [RCV004784377] Chr8:67258209..67258210 [GRCh38]
Chr8:68170444..68170445 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_006421.5(ARFGEF1):c.2428G>A (p.Glu810Lys) single nucleotide variant not provided [RCV004776722] Chr8:67258098 [GRCh38]
Chr8:68170333 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.491_492del (p.Ile164fs) deletion not provided [RCV004776710] Chr8:67296578..67296579 [GRCh38]
Chr8:68208813..68208814 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.3331-8A>G single nucleotide variant Joubert syndrome 21 [RCV003111967] Chr8:67193456 [GRCh38]
Chr8:68105691 [GRCh37]
Chr8:8q13.2		 likely benign
NC_000008.10:g.(?_67976634)_(68658364_?)del deletion Joubert syndrome 21 [RCV003122721] Chr8:67976634..68658364 [GRCh37]
Chr8:8q13.1-13.2		 pathogenic
NM_006421.5(ARFGEF1):c.1633A>G (p.Lys545Glu) single nucleotide variant not provided [RCV004778056] Chr8:67267382 [GRCh38]
Chr8:68179617 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.74T>C (p.Val25Ala) single nucleotide variant not provided [RCV004778531] Chr8:67343214 [GRCh38]
Chr8:68255449 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.3752C>G (p.Thr1251Arg) single nucleotide variant not provided [RCV004776661] Chr8:67227301 [GRCh38]
Chr8:68139536 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.2980-5T>C single nucleotide variant Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV004785106] Chr8:67238898 [GRCh38]
Chr8:68151133 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.623G>T (p.Arg208Leu) single nucleotide variant See cases [RCV003128499] Chr8:67296447 [GRCh38]
Chr8:68208682 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.5128+1G>A single nucleotide variant Delayed ability to walk [RCV002256955] Chr8:67203082 [GRCh38]
Chr8:68115317 [GRCh37]
Chr8:8q13.2		 likely pathogenic
NM_006421.5(ARFGEF1):c.209C>G (p.Ser70Ter) single nucleotide variant Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV003233373] Chr8:67301327 [GRCh38]
Chr8:68213562 [GRCh37]
Chr8:8q13.2		 likely pathogenic
NM_001382391.1(CSPP1):c.3437T>C (p.Leu1146Pro) single nucleotide variant Joubert syndrome 21 [RCV002296998] Chr8:67193570 [GRCh38]
Chr8:68105805 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3470-2A>G single nucleotide variant not provided [RCV002261479] Chr8:67195380 [GRCh38]
Chr8:68107615 [GRCh37]
Chr8:8q13.2		 not provided
NM_006421.5(ARFGEF1):c.4146G>A (p.Trp1382Ter) single nucleotide variant Neurodevelopmental delay [RCV002274310] Chr8:67224965 [GRCh38]
Chr8:68137200 [GRCh37]
Chr8:8q13.2		 likely pathogenic
NM_001382391.1(CSPP1):c.3424C>T (p.Arg1142Ter) single nucleotide variant Joubert syndrome 21 [RCV003095870]|not provided [RCV002260866] Chr8:67193557 [GRCh38]
Chr8:68105792 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.4345G>T (p.Glu1449Ter) single nucleotide variant Neurodevelopmental delay [RCV002274311] Chr8:67218132 [GRCh38]
Chr8:68130367 [GRCh37]
Chr8:8q13.2		 likely pathogenic
NM_006421.5(ARFGEF1):c.5084del (p.Ala1695fs) deletion Neurodevelopmental delay [RCV002274312] Chr8:67203127 [GRCh38]
Chr8:68115362 [GRCh37]
Chr8:8q13.2		 likely pathogenic
NM_006421.5(ARFGEF1):c.640-2A>C single nucleotide variant not provided [RCV002273612] Chr8:67292125 [GRCh38]
Chr8:68204360 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3140T>C (p.Val1047Ala) single nucleotide variant not provided [RCV002292038] Chr8:67177710 [GRCh38]
Chr8:68089945 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.1807G>C (p.Val603Leu) single nucleotide variant not provided [RCV002273542] Chr8:67267096 [GRCh38]
Chr8:68179331 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.4614-2A>G single nucleotide variant Neurodevelopmental delay [RCV002274309] Chr8:67216664 [GRCh38]
Chr8:68128899 [GRCh37]
Chr8:8q13.2		 likely pathogenic
NM_006421.5(ARFGEF1):c.901_902delinsAA (p.Ala301Lys) indel not provided [RCV002269521] Chr8:67291861..67291862 [GRCh38]
Chr8:68204096..68204097 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.4365C>A (p.Cys1455Ter) AND DEVELOPMENTAL DELAY, IMPAIRED SPEECH, BEHAVIORAL ABNORMALITIES, single nucleotide variant DEVELOPMENTAL DELAY, IMPAIRED SPEECH, BEHAVIORAL ABNORMALITIES, AND SEIZURES [RCV002277101] Chr8:67218112 [GRCh38]
Chr8:68130347 [GRCh37]
Chr8:8q13.2		 pathogenic
NC_000008.10:g.(?_68109883)_(68255913_?)del deletion Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV003236557] Chr8:68109883..68255913 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_006421.5(ARFGEF1):c.3232G>T (p.Gly1078Ter) single nucleotide variant Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV002286490] Chr8:67238400 [GRCh38]
Chr8:68150635 [GRCh37]
Chr8:8q13.2		 likely pathogenic
GRCh37/hg19 8q13.1-13.2(chr8:67642641-68406704)x1 copy number loss not provided [RCV002473707] Chr8:67642641..68406704 [GRCh37]
Chr8:8q13.1-13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.1338-20_1338-18dup duplication not specified [RCV002470076] Chr8:67271953..67271954 [GRCh38]
Chr8:68184188..68184189 [GRCh37]
Chr8:8q13.2		 uncertain significance
GRCh37/hg19 8q13.1-13.2(chr8:67261729-68676568)x1 copy number loss not provided [RCV002472760] Chr8:67261729..68676568 [GRCh37]
Chr8:8q13.1-13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.3421+1G>T single nucleotide variant not provided [RCV002469575] Chr8:67228223 [GRCh38]
Chr8:68140458 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.1641G>A (p.Met547Ile) single nucleotide variant Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV002468951] Chr8:67267374 [GRCh38]
Chr8:68179609 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.136G>A (p.Ala46Thr) single nucleotide variant not provided [RCV004588720] Chr8:67302455 [GRCh38]
Chr8:68214690 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.2038A>T (p.Ser680Cys) single nucleotide variant Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV002468666] Chr8:67266091 [GRCh38]
Chr8:68178326 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.4244_4245del (p.Tyr1415fs) microsatellite not provided [RCV002306140] Chr8:67219524..67219525 [GRCh38]
Chr8:68131759..68131760 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3399T>A (p.Asp1133Glu) single nucleotide variant Joubert syndrome 21 [RCV003011830] Chr8:67193532 [GRCh38]
Chr8:68105767 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3170C>A (p.Thr1057Asn) single nucleotide variant Joubert syndrome 21 [RCV002904141] Chr8:67179876 [GRCh38]
Chr8:68092111 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.1148C>A (p.Ala383Glu) single nucleotide variant Inborn genetic diseases [RCV002860100]|not provided [RCV004765723] Chr8:67277337 [GRCh38]
Chr8:68189572 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.4726A>G (p.Ile1576Val) single nucleotide variant Inborn genetic diseases [RCV002773061] Chr8:67211576 [GRCh38]
Chr8:68123811 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3438G>C (p.Leu1146=) single nucleotide variant Joubert syndrome 21 [RCV003033388] Chr8:67193571 [GRCh38]
Chr8:68105806 [GRCh37]
Chr8:8q13.2		 likely benign
NM_006421.5(ARFGEF1):c.5101G>A (p.Glu1701Lys) single nucleotide variant Inborn genetic diseases [RCV002818192] Chr8:67203110 [GRCh38]
Chr8:68115345 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3400G>A (p.Glu1134Lys) single nucleotide variant Joubert syndrome 21 [RCV002775177] Chr8:67193533 [GRCh38]
Chr8:68105768 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3598G>A (p.Glu1200Lys) single nucleotide variant Joubert syndrome 21 [RCV002996936] Chr8:67195510 [GRCh38]
Chr8:68107745 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3563C>T (p.Pro1188Leu) single nucleotide variant Joubert syndrome 21 [RCV003075442] Chr8:67195475 [GRCh38]
Chr8:68107710 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.4526T>C (p.Ile1509Thr) single nucleotide variant not provided [RCV002755209] Chr8:67217869 [GRCh38]
Chr8:68130104 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3330+17del deletion Joubert syndrome 21 [RCV002903593] Chr8:67190773 [GRCh38]
Chr8:68103008 [GRCh37]
Chr8:8q13.2		 benign
NM_006421.5(ARFGEF1):c.862A>G (p.Ile288Val) single nucleotide variant Inborn genetic diseases [RCV002707809] Chr8:67291901 [GRCh38]
Chr8:68204136 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3398A>C (p.Asp1133Ala) single nucleotide variant Joubert syndrome 21 [RCV003021918] Chr8:67193531 [GRCh38]
Chr8:68105766 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.4760C>T (p.Ala1587Val) single nucleotide variant Inborn genetic diseases [RCV002910787] Chr8:67211542 [GRCh38]
Chr8:68123777 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3220+7A>G single nucleotide variant Joubert syndrome 21 [RCV003002844] Chr8:67179933 [GRCh38]
Chr8:68092168 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3622C>T (p.Gln1208Ter) single nucleotide variant Joubert syndrome 21 [RCV002825478] Chr8:67195534 [GRCh38]
Chr8:68107769 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3220+13_3220+16del microsatellite Joubert syndrome 21 [RCV003036325] Chr8:67179934..67179937 [GRCh38]
Chr8:68092169..68092172 [GRCh37]
Chr8:8q13.2		 likely benign
NM_006421.5(ARFGEF1):c.4898A>G (p.Asn1633Ser) single nucleotide variant Inborn genetic diseases [RCV002693822] Chr8:67204741 [GRCh38]
Chr8:68116976 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3585dup (p.Arg1196fs) duplication Joubert syndrome 21 [RCV002705615] Chr8:67195494..67195495 [GRCh38]
Chr8:68107729..68107730 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3470-12T>C single nucleotide variant Joubert syndrome 21 [RCV002636265] Chr8:67195370 [GRCh38]
Chr8:68107605 [GRCh37]
Chr8:8q13.2		 likely benign
NM_006421.5(ARFGEF1):c.2699-1G>A single nucleotide variant Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV004796744]|not provided [RCV002885864] Chr8:67251451 [GRCh38]
Chr8:68163686 [GRCh37]
Chr8:8q13.2		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001382391.1(CSPP1):c.3639A>G (p.Pro1213=) single nucleotide variant Joubert syndrome 21 [RCV002867252] Chr8:67195551 [GRCh38]
Chr8:68107786 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3293G>A (p.Arg1098Gln) single nucleotide variant Joubert syndrome 21 [RCV002658583] Chr8:67190722 [GRCh38]
Chr8:68102957 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3141A>G (p.Val1047=) single nucleotide variant Joubert syndrome 21 [RCV002909273] Chr8:67177711 [GRCh38]
Chr8:68089946 [GRCh37]
Chr8:8q13.2		 likely benign
NM_006421.5(ARFGEF1):c.1429T>C (p.Phe477Leu) single nucleotide variant Inborn genetic diseases [RCV002869662] Chr8:67271845 [GRCh38]
Chr8:68184080 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3072G>C (p.Lys1024Asn) single nucleotide variant Joubert syndrome 21 [RCV003019469] Chr8:67175399 [GRCh38]
Chr8:68087634 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3354A>G (p.Ala1118=) single nucleotide variant CSPP1-related disorder [RCV003936437]|Joubert syndrome 21 [RCV002953166] Chr8:67193487 [GRCh38]
Chr8:68105722 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3283C>A (p.Pro1095Thr) single nucleotide variant Joubert syndrome 21 [RCV002923485] Chr8:67190712 [GRCh38]
Chr8:68102947 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3652T>C (p.Trp1218Arg) single nucleotide variant Joubert syndrome 21 [RCV002912485] Chr8:67195564 [GRCh38]
Chr8:68107799 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.208T>G (p.Ser70Ala) single nucleotide variant Inborn genetic diseases [RCV002844780] Chr8:67301328 [GRCh38]
Chr8:68213563 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3306G>T (p.Arg1102Ser) single nucleotide variant Inborn genetic diseases [RCV002661366] Chr8:67190735 [GRCh38]
Chr8:68102970 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3221-5C>T single nucleotide variant Joubert syndrome 21 [RCV002761501] Chr8:67190645 [GRCh38]
Chr8:68102880 [GRCh37]
Chr8:8q13.2		 likely benign
NM_006421.5(ARFGEF1):c.4744G>A (p.Asp1582Asn) single nucleotide variant Inborn genetic diseases [RCV002738097] Chr8:67211558 [GRCh38]
Chr8:68123793 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3510A>G (p.Lys1170=) single nucleotide variant Joubert syndrome 21 [RCV003043500] Chr8:67195422 [GRCh38]
Chr8:68107657 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3254A>G (p.Asp1085Gly) single nucleotide variant Inborn genetic diseases [RCV003269349]|Joubert syndrome 21 [RCV002954279] Chr8:67190683 [GRCh38]
Chr8:68102918 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3166G>A (p.Asp1056Asn) single nucleotide variant Joubert syndrome 21 [RCV003005025] Chr8:67179872 [GRCh38]
Chr8:68092107 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.3195A>T (p.Lys1065Asn) single nucleotide variant Inborn genetic diseases [RCV002874599] Chr8:67238437 [GRCh38]
Chr8:68150672 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3289G>A (p.Ala1097Thr) single nucleotide variant Joubert syndrome 21 [RCV002624239] Chr8:67190718 [GRCh38]
Chr8:68102953 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.4208+3A>G single nucleotide variant Inborn genetic diseases [RCV002697278] Chr8:67224900 [GRCh38]
Chr8:68137135 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3330+19T>A single nucleotide variant Joubert syndrome 21 [RCV002740801] Chr8:67190778 [GRCh38]
Chr8:68103013 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3478A>C (p.Ser1160Arg) single nucleotide variant Joubert syndrome 21 [RCV002890558] Chr8:67195390 [GRCh38]
Chr8:68107625 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3469+10C>T single nucleotide variant Joubert syndrome 21 [RCV003043045] Chr8:67193612 [GRCh38]
Chr8:68105847 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3477_3479dup (p.Glu1159_Ser1160insArg) duplication Joubert syndrome 21 [RCV002890565] Chr8:67195388..67195389 [GRCh38]
Chr8:68107623..68107624 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3330+20C>T single nucleotide variant Joubert syndrome 21 [RCV003085119] Chr8:67190779 [GRCh38]
Chr8:68103014 [GRCh37]
Chr8:8q13.2		 likely benign
NM_006421.5(ARFGEF1):c.490A>G (p.Ile164Val) single nucleotide variant Inborn genetic diseases [RCV002930842] Chr8:67296580 [GRCh38]
Chr8:68208815 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3525C>A (p.Asp1175Glu) single nucleotide variant Joubert syndrome 21 [RCV002593967] Chr8:67195437 [GRCh38]
Chr8:68107672 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3606G>C (p.Leu1202=) single nucleotide variant Joubert syndrome 21 [RCV002626707] Chr8:67195518 [GRCh38]
Chr8:68107753 [GRCh37]
Chr8:8q13.2		 likely benign
NM_006421.5(ARFGEF1):c.596C>A (p.Thr199Asn) single nucleotide variant Inborn genetic diseases [RCV002665897] Chr8:67296474 [GRCh38]
Chr8:68208709 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3253G>A (p.Asp1085Asn) single nucleotide variant Joubert syndrome 21 [RCV002876088] Chr8:67190682 [GRCh38]
Chr8:68102917 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3266del (p.Pro1089fs) deletion Joubert syndrome 21 [RCV002626911] Chr8:67190693 [GRCh38]
Chr8:68102928 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_006421.5(ARFGEF1):c.4286G>T (p.Arg1429Ile) single nucleotide variant Inborn genetic diseases [RCV002930294] Chr8:67219483 [GRCh38]
Chr8:68131718 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.4655C>A (p.Pro1552Gln) single nucleotide variant Inborn genetic diseases [RCV002698289] Chr8:67216621 [GRCh38]
Chr8:68128856 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3155T>C (p.Met1052Thr) single nucleotide variant Joubert syndrome 21 [RCV003065923] Chr8:67177725 [GRCh38]
Chr8:68089960 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3662T>C (p.Leu1221Pro) single nucleotide variant Joubert syndrome 21 [RCV002720242] Chr8:67195574 [GRCh38]
Chr8:68107809 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.4655dup (p.Pro1553fs) duplication Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV004763492]|not provided [RCV002967250] Chr8:67216620..67216621 [GRCh38]
Chr8:68128855..68128856 [GRCh37]
Chr8:8q13.2		 pathogenic|likely pathogenic|uncertain significance
NM_001382391.1(CSPP1):c.3652_3662del (p.Trp1218fs) deletion Joubert syndrome 21 [RCV003064146] Chr8:67195562..67195572 [GRCh38]
Chr8:68107797..68107807 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3366C>T (p.Leu1122=) single nucleotide variant Joubert syndrome 21 [RCV002834601] Chr8:67193499 [GRCh38]
Chr8:68105734 [GRCh37]
Chr8:8q13.2		 likely benign
NM_006421.5(ARFGEF1):c.5224A>G (p.Ser1742Gly) single nucleotide variant Inborn genetic diseases [RCV002769458] Chr8:67201510 [GRCh38]
Chr8:68113745 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3660C>T (p.Gly1220=) single nucleotide variant Joubert syndrome 21 [RCV002937497] Chr8:67195572 [GRCh38]
Chr8:68107807 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3105C>T (p.Ala1035=) single nucleotide variant Joubert syndrome 21 [RCV002629076] Chr8:67175432 [GRCh38]
Chr8:68087667 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3213T>C (p.Ala1071=) single nucleotide variant Joubert syndrome 21 [RCV003090923] Chr8:67179919 [GRCh38]
Chr8:68092154 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3221-1G>A single nucleotide variant Joubert syndrome 21 [RCV002877521] Chr8:67190649 [GRCh38]
Chr8:68102884 [GRCh37]
Chr8:8q13.2		 likely pathogenic
NM_001382391.1(CSPP1):c.3569C>T (p.Thr1190Ile) single nucleotide variant Joubert syndrome 21 [RCV002672035] Chr8:67195481 [GRCh38]
Chr8:68107716 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2969-19A>G single nucleotide variant Joubert syndrome 21 [RCV003090388] Chr8:67175277 [GRCh38]
Chr8:68087512 [GRCh37]
Chr8:8q13.2		 likely benign
NM_006421.5(ARFGEF1):c.4810T>C (p.Ser1604Pro) single nucleotide variant Inborn genetic diseases [RCV002941069] Chr8:67211492 [GRCh38]
Chr8:68123727 [GRCh37]
Chr8:8q13.2		 likely benign
NM_006421.5(ARFGEF1):c.1932A>C (p.Lys644Asn) single nucleotide variant Inborn genetic diseases [RCV002675092] Chr8:67266197 [GRCh38]
Chr8:68178432 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.4067A>G (p.Asp1356Gly) single nucleotide variant Inborn genetic diseases [RCV002679274] Chr8:67226033 [GRCh38]
Chr8:68138268 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3640G>T (p.Gly1214Cys) single nucleotide variant Joubert syndrome 21 [RCV003092753] Chr8:67195552 [GRCh38]
Chr8:68107787 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3439A>C (p.Asn1147His) single nucleotide variant Joubert syndrome 21 [RCV003071551] Chr8:67193572 [GRCh38]
Chr8:68105807 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3580C>T (p.Leu1194=) single nucleotide variant Joubert syndrome 21 [RCV003072074] Chr8:67195492 [GRCh38]
Chr8:68107727 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3168C>T (p.Asp1056=) single nucleotide variant Joubert syndrome 21 [RCV002680773] Chr8:67179874 [GRCh38]
Chr8:68092109 [GRCh37]
Chr8:8q13.2		 likely benign
NM_006421.5(ARFGEF1):c.3124A>G (p.Asn1042Asp) single nucleotide variant not provided [RCV004780901] Chr8:67238749 [GRCh38]
Chr8:68150984 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.3879dup (p.Val1294fs) duplication Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV004795516] Chr8:67227173..67227174 [GRCh38]
Chr8:68139408..68139409 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.3362T>G (p.Val1121Gly) single nucleotide variant not provided [RCV004779611] Chr8:67232873 [GRCh38]
Chr8:68145108 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.2225G>A (p.Arg742Lys) single nucleotide variant not provided [RCV004781358] Chr8:67259825 [GRCh38]
Chr8:68172060 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.2339C>G (p.Ala780Gly) single nucleotide variant Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV004785774] Chr8:67258187 [GRCh38]
Chr8:68170422 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.1739A>C (p.Glu580Ala) single nucleotide variant Inborn genetic diseases [RCV003256111] Chr8:67267164 [GRCh38]
Chr8:68179399 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.4328A>C (p.Gln1443Pro) single nucleotide variant not provided [RCV004778427] Chr8:67219441 [GRCh38]
Chr8:68131676 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3586C>T (p.Arg1196Cys) single nucleotide variant not provided [RCV003221729] Chr8:67195498 [GRCh38]
Chr8:68107733 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.4829A>G (p.Glu1610Gly) single nucleotide variant Inborn genetic diseases [RCV003203185] Chr8:67204810 [GRCh38]
Chr8:68117045 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.5144C>T (p.Ser1715Phe) single nucleotide variant Inborn genetic diseases [RCV003210742] Chr8:67201590 [GRCh38]
Chr8:68113825 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.3054G>C (p.Met1018Ile) single nucleotide variant Inborn genetic diseases [RCV003213397] Chr8:67238819 [GRCh38]
Chr8:68151054 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2969-3C>G single nucleotide variant not provided [RCV003228374] Chr8:67175293 [GRCh38]
Chr8:68087528 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.1387A>G (p.Ile463Val) single nucleotide variant not provided [RCV003159430] Chr8:67271887 [GRCh38]
Chr8:68184122 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3641G>A (p.Gly1214Asp) single nucleotide variant Joubert syndrome 21 [RCV003143381] Chr8:67195553 [GRCh38]
Chr8:68107788 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3330+2T>C single nucleotide variant Joubert syndrome 21 [RCV003143380] Chr8:67190761 [GRCh38]
Chr8:68102996 [GRCh37]
Chr8:8q13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_006421.5(ARFGEF1):c.2860_2861del (p.Thr954fs) deletion Developmental delay, impaired speech, and behavioral abnormalities [RCV003142385] Chr8:67240280..67240281 [GRCh38]
Chr8:68152515..68152516 [GRCh37]
Chr8:8q13.2		 likely pathogenic
NM_006421.5(ARFGEF1):c.473C>T (p.Ala158Val) single nucleotide variant Inborn genetic diseases [RCV003208665] Chr8:67296597 [GRCh38]
Chr8:68208832 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.1528A>T (p.Thr510Ser) single nucleotide variant Global developmental delay with or without impaired intellectual development [RCV003140426] Chr8:67271746 [GRCh38]
Chr8:68183981 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.2175G>A (p.Met725Ile) single nucleotide variant Glycogen storage disease IXd [RCV003140514] Chr8:67259875 [GRCh38]
Chr8:68172110 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.2851-1G>T single nucleotide variant Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV003224987] Chr8:67240291 [GRCh38]
Chr8:68152526 [GRCh37]
Chr8:8q13.2		 likely pathogenic
NC_000008.10:g.(68115487_68116914)_(68130374_68131665)del deletion not specified [RCV003226774] Chr8:68116914..68130374 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.4790A>G (p.Glu1597Gly) single nucleotide variant Inborn genetic diseases [RCV003309073] Chr8:67211512 [GRCh38]
Chr8:68123747 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.5549G>T (p.Ter1850Leu) single nucleotide variant not provided [RCV003318959] Chr8:67198935 [GRCh38]
Chr8:68111170 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.5164C>T (p.Gln1722Ter) single nucleotide variant Inborn genetic diseases [RCV003341079] Chr8:67201570 [GRCh38]
Chr8:68113805 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_006421.5(ARFGEF1):c.38C>T (p.Thr13Ile) single nucleotide variant Inborn genetic diseases [RCV003342312] Chr8:67343250 [GRCh38]
Chr8:68255485 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.3182del (p.Gly1061fs) deletion Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV003387594] Chr8:67238450 [GRCh38]
Chr8:68150685 [GRCh37]
Chr8:8q13.2		 likely pathogenic
NM_006421.5(ARFGEF1):c.3752C>T (p.Thr1251Ile) single nucleotide variant not provided [RCV003387620] Chr8:67227301 [GRCh38]
Chr8:68139536 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.3418A>G (p.Ile1140Val) single nucleotide variant Inborn genetic diseases [RCV003343348] Chr8:67228227 [GRCh38]
Chr8:68140462 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.1303A>G (p.Met435Val) single nucleotide variant not specified [RCV003331572] Chr8:67276010 [GRCh38]
Chr8:68188245 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.1010T>C (p.Val337Ala) single nucleotide variant Inborn genetic diseases [RCV003361380] Chr8:67287972 [GRCh38]
Chr8:68200207 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.287T>A (p.Val96Asp) single nucleotide variant not provided [RCV003332734] Chr8:67301249 [GRCh38]
Chr8:68213484 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.3814C>T (p.Arg1272Ter) single nucleotide variant Inborn genetic diseases [RCV003371945] Chr8:67227239 [GRCh38]
Chr8:68139474 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_006421.5(ARFGEF1):c.4554A>T (p.Glu1518Asp) single nucleotide variant Inborn genetic diseases [RCV003385625] Chr8:67217841 [GRCh38]
Chr8:68130076 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.1853C>T (p.Ser618Leu) single nucleotide variant Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV003333434] Chr8:67266944 [GRCh38]
Chr8:68179179 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.1496A>G (p.Glu499Gly) single nucleotide variant Inborn genetic diseases [RCV003364625] Chr8:67271778 [GRCh38]
Chr8:68184013 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.761T>C (p.Val254Ala) single nucleotide variant Inborn genetic diseases [RCV003373912] Chr8:67292002 [GRCh38]
Chr8:68204237 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.4831_4832del (p.Gln1611fs) deletion not provided [RCV003457537] Chr8:67204807..67204808 [GRCh38]
Chr8:68117042..68117043 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_006421.5(ARFGEF1):c.1031T>C (p.Met344Thr) single nucleotide variant Inborn genetic diseases [RCV003369010]|not specified [RCV003988112] Chr8:67277454 [GRCh38]
Chr8:68189689 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.996_1005del (p.Val333fs) deletion Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV003448540] Chr8:67287977..67287986 [GRCh38]
Chr8:68200212..68200221 [GRCh37]
Chr8:8q13.2		 likely pathogenic
NM_001382391.1(CSPP1):c.3143G>A (p.Arg1048Gln) single nucleotide variant Joubert syndrome 21 [RCV003743449] Chr8:67177713 [GRCh38]
Chr8:68089948 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.4357A>G (p.Thr1453Ala) single nucleotide variant not provided [RCV003874441] Chr8:67218120 [GRCh38]
Chr8:68130355 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.4156C>G (p.Leu1386Val) single nucleotide variant Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV003448565] Chr8:67224955 [GRCh38]
Chr8:68137190 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.1337+1G>C single nucleotide variant Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV003389292] Chr8:67275975 [GRCh38]
Chr8:68188210 [GRCh37]
Chr8:8q13.2		 likely pathogenic
NM_006421.5(ARFGEF1):c.4627C>T (p.Arg1543Ter) single nucleotide variant ARFGEF1-related disorder [RCV004753677]|Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV003389305] Chr8:67216649 [GRCh38]
Chr8:68128884 [GRCh37]
Chr8:8q13.2		 pathogenic|likely pathogenic
NM_006421.5(ARFGEF1):c.4426G>A (p.Val1476Ile) single nucleotide variant Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV004818830] Chr8:67218051 [GRCh38]
Chr8:68130286 [GRCh37]		 uncertain significance
NM_006421.5(ARFGEF1):c.3454A>C (p.Met1152Leu) single nucleotide variant Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV004818963] Chr8:67228100 [GRCh38]
Chr8:68140335 [GRCh37]		 uncertain significance
NM_006421.5(ARFGEF1):c.4907T>C (p.Phe1636Ser) single nucleotide variant not provided [RCV003435517] Chr8:67204732 [GRCh38]
Chr8:68116967 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.2743A>G (p.Met915Val) single nucleotide variant not provided [RCV003443796] Chr8:67251406 [GRCh38]
Chr8:68163641 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.3474G>A (p.Thr1158=) single nucleotide variant not provided [RCV003423937] Chr8:67228080 [GRCh38]
Chr8:68140315 [GRCh37]
Chr8:8q13.2		 likely benign
NM_006421.5(ARFGEF1):c.2857T>G (p.Trp953Gly) single nucleotide variant ARFGEF1-related disorder [RCV003404314] Chr8:67240284 [GRCh38]
Chr8:68152519 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.5486G>A (p.Arg1829Gln) single nucleotide variant ARFGEF1-related disorder [RCV003412256] Chr8:67198998 [GRCh38]
Chr8:68111233 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.1865G>A (p.Cys622Tyr) single nucleotide variant not provided [RCV003435519] Chr8:67266932 [GRCh38]
Chr8:68179167 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.3978T>C (p.Cys1326=) single nucleotide variant not provided [RCV003435518] Chr8:67226122 [GRCh38]
Chr8:68138357 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.3699_3705del (p.Gln1233fs) deletion ARFGEF1-related disorder [RCV003406103] Chr8:67227485..67227491 [GRCh38]
Chr8:68139720..68139726 [GRCh37]
Chr8:8q13.2		 likely pathogenic
NM_006421.5(ARFGEF1):c.1922-2A>G single nucleotide variant not provided [RCV003442298] Chr8:67266209 [GRCh38]
Chr8:68178444 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.3273A>G (p.Pro1091=) single nucleotide variant Joubert syndrome 21 [RCV003583807] Chr8:67190702 [GRCh38]
Chr8:68102937 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3525C>T (p.Asp1175=) single nucleotide variant Joubert syndrome 21 [RCV003745097] Chr8:67195437 [GRCh38]
Chr8:68107672 [GRCh37]
Chr8:8q13.2		 likely benign
NM_006421.5(ARFGEF1):c.3212G>A (p.Gly1071Glu) single nucleotide variant not specified [RCV003489631] Chr8:67238420 [GRCh38]
Chr8:68150655 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3330+13C>A single nucleotide variant Joubert syndrome 21 [RCV003744102] Chr8:67190772 [GRCh38]
Chr8:68103007 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3126C>T (p.Ile1042=) single nucleotide variant Joubert syndrome 21 [RCV003744416] Chr8:67177696 [GRCh38]
Chr8:68089931 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3330+13C>T single nucleotide variant Joubert syndrome 21 [RCV003745785] Chr8:67190772 [GRCh38]
Chr8:68103007 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3660C>A (p.Gly1220=) single nucleotide variant Joubert syndrome 21 [RCV003744474] Chr8:67195572 [GRCh38]
Chr8:68107807 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3470-20G>A single nucleotide variant Joubert syndrome 21 [RCV003745717] Chr8:67195362 [GRCh38]
Chr8:68107597 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2969-8T>A single nucleotide variant Joubert syndrome 21 [RCV003745782] Chr8:67175288 [GRCh38]
Chr8:68087523 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3470-4G>A single nucleotide variant Joubert syndrome 21 [RCV003583665] Chr8:67195378 [GRCh38]
Chr8:68107613 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3135T>C (p.Ala1045=) single nucleotide variant Joubert syndrome 21 [RCV003583294] Chr8:67177705 [GRCh38]
Chr8:68089940 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3454A>G (p.Lys1152Glu) single nucleotide variant Joubert syndrome 21 [RCV003583803] Chr8:67193587 [GRCh38]
Chr8:68105822 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3220+8T>C single nucleotide variant Joubert syndrome 21 [RCV003744130] Chr8:67179934 [GRCh38]
Chr8:68092169 [GRCh37]
Chr8:8q13.2		 likely benign
NM_006421.5(ARFGEF1):c.1118A>G (p.Asn373Ser) single nucleotide variant Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV003492912] Chr8:67277367 [GRCh38]
Chr8:68189602 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3395T>C (p.Val1132Ala) single nucleotide variant Joubert syndrome 21 [RCV003745874] Chr8:67193528 [GRCh38]
Chr8:68105763 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3221-10G>A single nucleotide variant Joubert syndrome 21 [RCV003744440] Chr8:67190640 [GRCh38]
Chr8:68102875 [GRCh37]
Chr8:8q13.2		 likely benign
NM_006421.5(ARFGEF1):c.3718T>G (p.Phe1240Val) single nucleotide variant Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV003764485] Chr8:67227472 [GRCh38]
Chr8:68139707 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.3305A>G (p.Asp1102Gly) single nucleotide variant Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV003764488] Chr8:67232930 [GRCh38]
Chr8:68145165 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.1457G>A (p.Cys486Tyr) single nucleotide variant not provided [RCV004801715] Chr8:67271817 [GRCh38]
Chr8:68184052 [GRCh37]
Chr8:8q13.2		 uncertain significance
NC_000008.10:g.(?_68109892)_(68130374_68131665)dup duplication not specified [RCV003995116] Chr8:68109892..68130374 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.398C>T (p.Thr133Ile) single nucleotide variant Developmental disorder [RCV003764471] Chr8:67299270 [GRCh38]
Chr8:68211505 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3470-16C>T single nucleotide variant Joubert syndrome 21 [RCV003832482] Chr8:67195366 [GRCh38]
Chr8:68107601 [GRCh37]
Chr8:8q13.2		 likely benign
GRCh37/hg19 8q13.1-13.2(chr8:67848148-69198213)x1 copy number loss not specified [RCV003986764] Chr8:67848148..69198213 [GRCh37]
Chr8:8q13.1-13.2		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_001382391.1(CSPP1):c.3222G>T (p.Gly1074=) single nucleotide variant Joubert syndrome 21 [RCV003848527] Chr8:67190651 [GRCh38]
Chr8:68102886 [GRCh37]
Chr8:8q13.2		 likely benign
GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3 copy number gain not specified [RCV003986754] Chr8:27024288..89410121 [GRCh37]
Chr8:8p21.2-q21.3		 pathogenic
NM_006421.5(ARFGEF1):c.2644A>G (p.Ile882Val) single nucleotide variant Inborn genetic diseases [RCV004420259] Chr8:67253505 [GRCh38]
Chr8:68165740 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.1983A>C (p.Arg661Ser) single nucleotide variant Inborn genetic diseases [RCV004420257] Chr8:67266146 [GRCh38]
Chr8:68178381 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.178G>A (p.Ala60Thr) single nucleotide variant Inborn genetic diseases [RCV004420256] Chr8:67301358 [GRCh38]
Chr8:68213593 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.4693A>G (p.Ile1565Val) single nucleotide variant Inborn genetic diseases [RCV004420268] Chr8:67211609 [GRCh38]
Chr8:68123844 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.3944C>T (p.Ala1315Val) single nucleotide variant Inborn genetic diseases [RCV004420263] Chr8:67226156 [GRCh38]
Chr8:68138391 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.320T>C (p.Ile107Thr) single nucleotide variant Inborn genetic diseases [RCV004420260] Chr8:67299348 [GRCh38]
Chr8:68211583 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3172A>G (p.Ser1058Gly) single nucleotide variant Inborn genetic diseases [RCV004372666] Chr8:67179878 [GRCh38]
Chr8:68092113 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.688C>T (p.His230Tyr) single nucleotide variant Inborn genetic diseases [RCV004420270] Chr8:67292075 [GRCh38]
Chr8:68204310 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.4452G>C (p.Gln1484His) single nucleotide variant Inborn genetic diseases [RCV004420265] Chr8:67218025 [GRCh38]
Chr8:68130260 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.5350T>C (p.Phe1784Leu) single nucleotide variant ARFGEF1-related disorder [RCV003893859] Chr8:67200431 [GRCh38]
Chr8:68112666 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.684T>G (p.His228Gln) single nucleotide variant Inborn genetic diseases [RCV004420269] Chr8:67292079 [GRCh38]
Chr8:68204314 [GRCh37]
Chr8:8q13.2		 likely benign
NM_006421.5(ARFGEF1):c.4384A>G (p.Ile1462Val) single nucleotide variant Inborn genetic diseases [RCV004420264] Chr8:67218093 [GRCh38]
Chr8:68130328 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.3727A>G (p.Ile1243Val) single nucleotide variant Inborn genetic diseases [RCV004420261] Chr8:67227463 [GRCh38]
Chr8:68139698 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.4984C>T (p.Arg1662Cys) single nucleotide variant ARFGEF1-related disorder [RCV003911819] Chr8:67203227 [GRCh38]
Chr8:68115462 [GRCh37]
Chr8:8q13.2		 likely benign
NM_006421.5(ARFGEF1):c.1275A>G (p.Leu425=) single nucleotide variant ARFGEF1-related disorder [RCV003909348]|Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV003994603] Chr8:67276038 [GRCh38]
Chr8:68188273 [GRCh37]
Chr8:8q13.2		 likely benign
NM_006421.5(ARFGEF1):c.312+4T>G single nucleotide variant not specified [RCV003995117] Chr8:67301220 [GRCh38]
Chr8:68213455 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.4081T>C (p.Phe1361Leu) single nucleotide variant not provided [RCV004554977] Chr8:67225030 [GRCh38]
Chr8:68137265 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.3743+2T>C single nucleotide variant Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV003985060] Chr8:67227445 [GRCh38]
Chr8:68139680 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.3289+1G>A single nucleotide variant not provided [RCV003887619] Chr8:67238342 [GRCh38]
Chr8:68150577 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_006421.5(ARFGEF1):c.37A>T (p.Thr13Ser) single nucleotide variant ARFGEF1-related disorder [RCV003969116] Chr8:67343251 [GRCh38]
Chr8:68255486 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.4649C>T (p.Ala1550Val) single nucleotide variant Inborn genetic diseases [RCV004420266] Chr8:67216627 [GRCh38]
Chr8:68128862 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.3772C>T (p.Arg1258Trp) single nucleotide variant Inborn genetic diseases [RCV004420262] Chr8:67227281 [GRCh38]
Chr8:68139516 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.1193A>G (p.Asn398Ser) single nucleotide variant Inborn genetic diseases [RCV004420255] Chr8:67277292 [GRCh38]
Chr8:68189527 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.1203+1G>T single nucleotide variant Neurodevelopmental disorder [RCV004018284] Chr8:67277281 [GRCh38]
Chr8:68189516 [GRCh37]
Chr8:8q13.2		 likely pathogenic
NM_006421.5(ARFGEF1):c.599A>C (p.Gln200Pro) single nucleotide variant not provided [RCV004588955] Chr8:67296471 [GRCh38]
Chr8:68208706 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.2925_2926del (p.Cys976fs) deletion Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV004018023] Chr8:67240215..67240216 [GRCh38]
Chr8:68152450..68152451 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_006421.5(ARFGEF1):c.1267G>T (p.Ala423Ser) single nucleotide variant not provided [RCV004585802] Chr8:67276046 [GRCh38]
Chr8:68188281 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.460G>C (p.Ala154Pro) single nucleotide variant Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV004566589] Chr8:67296610 [GRCh38]
Chr8:68208845 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.1378C>A (p.Leu460Ile) single nucleotide variant Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV004555959] Chr8:67271896 [GRCh38]
Chr8:68184131 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.5393C>T (p.Ala1798Val) single nucleotide variant not provided [RCV004598814] Chr8:67199091 [GRCh38]
Chr8:68111326 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.3903C>T (p.Thr1301=) single nucleotide variant Inborn genetic diseases [RCV004648725] Chr8:67227150 [GRCh38]
Chr8:68139385 [GRCh37]
Chr8:8q13.2		 likely benign
NM_006421.5(ARFGEF1):c.5228G>A (p.Arg1743His) single nucleotide variant Inborn genetic diseases [RCV004660239] Chr8:67201506 [GRCh38]
Chr8:68113741 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.3454A>G (p.Met1152Val) single nucleotide variant Inborn genetic diseases [RCV004648697] Chr8:67228100 [GRCh38]
Chr8:68140335 [GRCh37]
Chr8:8q13.2		 likely benign
NM_006421.5(ARFGEF1):c.10G>A (p.Gly4Arg) single nucleotide variant Inborn genetic diseases [RCV004648705] Chr8:67343278 [GRCh38]
Chr8:68255513 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.4139G>C (p.Arg1380Thr) single nucleotide variant Inborn genetic diseases [RCV004648712] Chr8:67224972 [GRCh38]
Chr8:68137207 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.2844G>C (p.Met948Ile) single nucleotide variant Inborn genetic diseases [RCV004648720] Chr8:67251305 [GRCh38]
Chr8:68163540 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.5320C>G (p.Arg1774Gly) single nucleotide variant not provided [RCV004591977] Chr8:67200461 [GRCh38]
Chr8:68112696 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.3799C>T (p.Gln1267Ter) single nucleotide variant Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV004595377] Chr8:67227254 [GRCh38]
Chr8:68139489 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_006421.5(ARFGEF1):c.3788T>A (p.Met1263Lys) single nucleotide variant Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV004594880] Chr8:67227265 [GRCh38]
Chr8:68139500 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.137C>T (p.Ala46Val) single nucleotide variant Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV004595729] Chr8:67302454 [GRCh38]
Chr8:68214689 [GRCh37]
Chr8:8q13.2		 benign
NM_006421.5(ARFGEF1):c.2203C>T (p.Gln735Ter) single nucleotide variant not provided [RCV004573073] Chr8:67259847 [GRCh38]
Chr8:68172082 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_006421.5(ARFGEF1):c.4718A>T (p.His1573Leu) single nucleotide variant Inborn genetic diseases [RCV004660258] Chr8:67211584 [GRCh38]
Chr8:68123819 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.4447G>T (p.Ala1483Ser) single nucleotide variant not provided [RCV004574992] Chr8:67218030 [GRCh38]
Chr8:68130265 [GRCh37]
Chr8:8q13.2		 benign
NM_006421.5(ARFGEF1):c.1924C>T (p.Gln642Ter) single nucleotide variant not provided [RCV004779753] Chr8:67266205 [GRCh38]
Chr8:68178440 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.5210T>A (p.Met1737Lys) single nucleotide variant not provided [RCV004779943] Chr8:67201524 [GRCh38]
Chr8:68113759 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.1645A>T (p.Ile549Phe) single nucleotide variant not provided [RCV004810465] Chr8:67267370 [GRCh38]
Chr8:68179605 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3526G>A (p.Gly1176Arg) single nucleotide variant not provided [RCV004762848] Chr8:67195438 [GRCh38]
Chr8:68107673 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.5331G>A (p.Trp1777Ter) single nucleotide variant not provided [RCV004766140] Chr8:67200450 [GRCh38]
Chr8:68112685 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.4240A>C (p.Thr1414Pro) single nucleotide variant not provided [RCV004724120] Chr8:67219529 [GRCh38]
Chr8:68131764 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.2643G>T (p.Lys881Asn) single nucleotide variant not provided [RCV004811040] Chr8:67253506 [GRCh38]
Chr8:68165741 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.4645A>C (p.Thr1549Pro) single nucleotide variant not provided [RCV004772109] Chr8:67216631 [GRCh38]
Chr8:68128866 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.2516A>G (p.His839Arg) single nucleotide variant ARFGEF1-related disorder [RCV004730753] Chr8:67257742 [GRCh38]
Chr8:68169977 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.1174A>G (p.Arg392Gly) single nucleotide variant ARFGEF1-related disorder [RCV004730808] Chr8:67277311 [GRCh38]
Chr8:68189546 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.1273_1274dup (p.Leu425_Val426insTer) duplication Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV004759491]   likely pathogenic
NM_006421.5(ARFGEF1):c.5481dup (p.Leu1828fs) duplication Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV004764869] Chr8:67199002..67199003 [GRCh38]
Chr8:68111237..68111238 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.1361_1362insC (p.Leu455fs) insertion Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV004785831] Chr8:67271912..67271913 [GRCh38]
Chr8:68184147..68184148 [GRCh37]
Chr8:8q13.2		 likely pathogenic
NM_006421.5(ARFGEF1):c.5440G>A (p.Asp1814Asn) single nucleotide variant not provided [RCV004774018] Chr8:67199044 [GRCh38]
Chr8:68111279 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.2581G>T (p.Asp861Tyr) single nucleotide variant not provided [RCV004723788] Chr8:67253568 [GRCh38]
Chr8:68165803 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.2699-2A>T single nucleotide variant ARFGEF1-related disorder [RCV004752633] Chr8:67251452 [GRCh38]
Chr8:68163687 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.1232C>T (p.Pro411Leu) single nucleotide variant not provided [RCV004774005] Chr8:67276081 [GRCh38]
Chr8:68188316 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.4266C>G (p.His1422Gln) single nucleotide variant not provided [RCV004774108] Chr8:67219503 [GRCh38]
Chr8:68131738 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.5167G>A (p.Glu1723Lys) single nucleotide variant not provided [RCV004766182] Chr8:67201567 [GRCh38]
Chr8:68113802 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.4923T>A (p.Ser1641Arg) single nucleotide variant ARFGEF1-related disorder [RCV004730531] Chr8:67204716 [GRCh38]
Chr8:68116951 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.5212_5213delinsGC (p.Tyr1738Ala) indel ARFGEF1-related disorder [RCV004730740] Chr8:67201521..67201522 [GRCh38]
Chr8:68113756..68113757 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.1240_1241del (p.Lys414fs) deletion Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV004789751] Chr8:67276072..67276073 [GRCh38]
Chr8:68188307..68188308 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_006421.5(ARFGEF1):c.5006G>A (p.Gly1669Glu) single nucleotide variant not provided [RCV004768047] Chr8:67203205 [GRCh38]
Chr8:68115440 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.5109G>C (p.Arg1703Ser) single nucleotide variant not provided [RCV004760910]   uncertain significance
NM_006421.5(ARFGEF1):c.784G>A (p.Glu262Lys) single nucleotide variant Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV004771643] Chr8:67291979 [GRCh38]
Chr8:68204214 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.1271T>G (p.Phe424Cys) single nucleotide variant not provided [RCV004768411] Chr8:67276042 [GRCh38]
Chr8:68188277 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.1229C>A (p.Ser410Ter) single nucleotide variant ARFGEF1-related disorder [RCV004753848] Chr8:67276084 [GRCh38]
Chr8:68188319 [GRCh37]
Chr8:8q13.2		 likely pathogenic
NM_006421.5(ARFGEF1):c.5241G>C (p.Trp1747Cys) single nucleotide variant not provided [RCV004773378] Chr8:67201493 [GRCh38]
Chr8:68113728 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.3004G>A (p.Ala1002Thr) single nucleotide variant Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV004764361]   uncertain significance
NM_006421.5(ARFGEF1):c.4913C>T (p.Pro1638Leu) single nucleotide variant not provided [RCV004761549]   uncertain significance
NM_006421.5(ARFGEF1):c.2106A>G (p.Ile702Met) single nucleotide variant not provided [RCV004769019] Chr8:67266023 [GRCh38]
Chr8:68178258 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.1085A>G (p.Glu362Gly) single nucleotide variant not provided [RCV004773888] Chr8:67277400 [GRCh38]
Chr8:68189635 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3145G>A (p.Glu1049Lys) single nucleotide variant not provided [RCV004727604] Chr8:67177715 [GRCh38]
Chr8:68089950 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.2719AGA[1] (p.Arg908del) microsatellite not provided [RCV004770890] Chr8:67251425..67251427 [GRCh38]
Chr8:68163660..68163662 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.3257A>G (p.Gln1086Arg) single nucleotide variant ARFGEF1-related disorder [RCV004753815] Chr8:67238375 [GRCh38]
Chr8:68150610 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.3719T>G (p.Phe1240Cys) single nucleotide variant not provided [RCV004772466] Chr8:67227471 [GRCh38]
Chr8:68139706 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.3374T>G (p.Val1125Gly) single nucleotide variant not provided [RCV004771227] Chr8:67232861 [GRCh38]
Chr8:68145096 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.923C>A (p.Ser308Tyr) single nucleotide variant not provided [RCV004772691] Chr8:67288059 [GRCh38]
Chr8:68200294 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.4435G>A (p.Asp1479Asn) single nucleotide variant not provided [RCV004761106]   uncertain significance
NM_006421.5(ARFGEF1):c.3500A>C (p.Gln1167Pro) single nucleotide variant not specified [RCV004703173] Chr8:67228054 [GRCh38]
Chr8:68140289 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.2345G>A (p.Arg782His) single nucleotide variant not provided [RCV004773642] Chr8:67258181 [GRCh38]
Chr8:68170416 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_006421.5(ARFGEF1):c.446T>A (p.Leu149Gln) single nucleotide variant not provided [RCV004773785] Chr8:67299222 [GRCh38]
Chr8:68211457 [GRCh37]
Chr8:8q13.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2116
Count of miRNA genes:1050
Interacting mature miRNAs:1254
Transcripts:ENST00000262215, ENST00000517631, ENST00000517955, ENST00000518230, ENST00000518290, ENST00000518789, ENST00000519436, ENST00000520381, ENST00000522878
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597225787GWAS1321861_Hchronic central serous retinopathy QTL GWAS1321861 (human)0.0000001chronic central serous retinopathy86721974667219747Human
597327257GWAS1423331_Hbody mass index QTL GWAS1423331 (human)3e-08body mass indexbody mass index (BMI) (CMO:0000105)86728353467283535Human
597335694GWAS1431768_HCOVID-19 QTL GWAS1431768 (human)0.0000008COVID-1986721102367211024Human
597336383GWAS1432457_HCOVID-19 QTL GWAS1432457 (human)0.000005COVID-1986721102367211024Human
596963441GWAS1082960_Hresponse to warfarin QTL GWAS1082960 (human)0.000003response to warfarin86730372867303729Human
1300005BP49_HBlood pressure QTL 49 (human)2.240.00066Blood pressuresystolic85317742079177420Human
597021635GWAS1117709_Hinterferon gamma measurement QTL GWAS1117709 (human)0.000002interferon gamma measurementmononuclear cell interferon gamma expression (CMO:0003222)86721103967211040Human
597029773GWAS1125847_Hwaist-hip ratio QTL GWAS1125847 (human)5e-10waist-hip ratiowaist to hip ratio (WHR) (CMO:0000020)86729137367291374Human
597439042GWAS1535116_HBMI-adjusted hip circumference QTL GWAS1535116 (human)0.000004BMI-adjusted hip circumferencehip circumference (CMO:0000014)86718320567183206Human
597285031GWAS1381105_Hresponse to warfarin QTL GWAS1381105 (human)0.000003response to warfarin86730372867303729Human

Markers in Region
L17871  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37188,653,450 - 8,653,735UniSTSGRCh37
GRCh37868,231,076 - 68,231,695UniSTSGRCh37
Build 36188,643,450 - 8,643,735RGDNCBI36
Celera864,224,485 - 64,225,104UniSTS
Celera188,537,798 - 8,538,083RGD
Cytogenetic Map8q13UniSTS
HuRef188,617,770 - 8,618,054UniSTS
HuRef863,723,237 - 63,723,856UniSTS
G17212  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37868,233,543 - 68,233,677UniSTSGRCh37
Build 36868,396,097 - 68,396,231RGDNCBI36
Celera864,226,952 - 64,227,086RGD
Cytogenetic Map8q13UniSTS
HuRef863,725,701 - 63,725,835UniSTS
RH91158  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37868,109,948 - 68,110,093UniSTSGRCh37
Build 36868,272,502 - 68,272,647RGDNCBI36
Celera864,103,348 - 64,103,493RGD
Cytogenetic Map8q13UniSTS
HuRef863,601,877 - 63,602,022UniSTS
GeneMap99-GB4 RH Map8344.92UniSTS
RH93991  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37868,110,904 - 68,111,026UniSTSGRCh37
Build 36868,273,458 - 68,273,580RGDNCBI36
Celera864,104,304 - 64,104,426RGD
Cytogenetic Map8q13UniSTS
HuRef863,602,833 - 63,602,955UniSTS
GeneMap99-GB4 RH Map8358.28UniSTS
G59907  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37868,125,602 - 68,125,702UniSTSGRCh37
Build 36868,288,156 - 68,288,256RGDNCBI36
Celera864,119,002 - 64,119,102RGD
Cytogenetic Map8q13UniSTS
HuRef863,617,531 - 63,617,631UniSTS
TNG Radiation Hybrid Map833801.0UniSTS
RH118724  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37868,219,555 - 68,219,833UniSTSGRCh37
Build 36868,382,109 - 68,382,387RGDNCBI36
Celera864,212,950 - 64,213,228RGD
Cytogenetic Map8q13UniSTS
HuRef863,712,330 - 63,712,608UniSTS
TNG Radiation Hybrid Map834455.0UniSTS
D8S1378E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37868,109,942 - 68,110,082UniSTSGRCh37
Build 36868,272,496 - 68,272,636RGDNCBI36
Celera864,103,342 - 64,103,482RGD
Cytogenetic Map8q13UniSTS
HuRef863,601,871 - 63,602,011UniSTS
ARFGEF1_9142  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37868,109,822 - 68,110,631UniSTSGRCh37
Build 36868,272,376 - 68,273,185RGDNCBI36
Celera864,103,222 - 64,104,031RGD
HuRef863,601,751 - 63,602,560UniSTS
G06218  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37868,109,933 - 68,110,158UniSTSGRCh37
Build 36868,272,487 - 68,272,712RGDNCBI36
Celera864,103,333 - 64,103,558RGD
Cytogenetic Map8q13UniSTS
HuRef863,601,862 - 63,602,087UniSTS
RH36443  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37868,237,485 - 68,237,702UniSTSGRCh37
Build 36868,400,039 - 68,400,256RGDNCBI36
Celera864,230,894 - 64,231,111RGD
Cytogenetic Map8q13UniSTS
HuRef863,729,642 - 63,729,859UniSTS
GeneMap99-GB4 RH Map8358.28UniSTS
A009B39  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37868,237,554 - 68,237,723UniSTSGRCh37
Build 36868,400,108 - 68,400,277RGDNCBI36
Celera864,230,963 - 64,231,132RGD
Cytogenetic Map8q13UniSTS
HuRef863,729,711 - 63,729,880UniSTS
GeneMap99-GB4 RH Map8358.38UniSTS
NCBI RH Map8833.0UniSTS
WIAF-2084  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37868,125,593 - 68,125,713UniSTSGRCh37
Build 36868,288,147 - 68,288,267RGDNCBI36
Celera864,118,993 - 64,119,113RGD
Cytogenetic Map8q13UniSTS
HuRef863,617,522 - 63,617,642UniSTS
GeneMap99-GB4 RH Map8358.28UniSTS
G32393  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37868,237,554 - 68,237,723UniSTSGRCh37
Celera864,230,963 - 64,231,132UniSTS
Cytogenetic Map8q13UniSTS
HuRef863,729,711 - 63,729,880UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2438 2788 2251 4972 1726 2351 6 624 1951 465 2269 7301 6469 53 3733 1 852 1744 1616 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001413184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_182117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC021321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC087359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF084520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF111162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI523655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI692863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI797683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL117446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE048435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA314908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000262215   ⟹   ENSP00000262215
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,197,658 - 67,343,781 (-)Ensembl
Ensembl Acc Id: ENST00000517955
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,198,405 - 67,201,889 (-)Ensembl
Ensembl Acc Id: ENST00000518230   ⟹   ENSP00000430891
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,199,929 - 67,238,754 (-)Ensembl
Ensembl Acc Id: ENST00000518290
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,197,674 - 67,201,805 (-)Ensembl
Ensembl Acc Id: ENST00000518789   ⟹   ENSP00000429560
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,175,487 - 67,211,529 (-)Ensembl
Ensembl Acc Id: ENST00000519436   ⟹   ENSP00000429002
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,299,314 - 67,343,677 (-)Ensembl
Ensembl Acc Id: ENST00000520381   ⟹   ENSP00000428429
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,173,511 - 67,271,708 (-)Ensembl
Ensembl Acc Id: ENST00000522878
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,199,011 - 67,207,190 (-)Ensembl
RefSeq Acc Id: NM_001413184   ⟹   NP_001400113
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,197,658 - 67,343,781 (-)NCBI
T2T-CHM13v2.0867,624,118 - 67,770,273 (-)NCBI
RefSeq Acc Id: NM_001413185   ⟹   NP_001400114
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,197,658 - 67,343,781 (-)NCBI
T2T-CHM13v2.0867,624,118 - 67,770,273 (-)NCBI
RefSeq Acc Id: NM_001413186   ⟹   NP_001400115
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,173,511 - 67,343,781 (-)NCBI
T2T-CHM13v2.0867,599,967 - 67,770,273 (-)NCBI
RefSeq Acc Id: NM_001413187   ⟹   NP_001400116
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,173,511 - 67,343,781 (-)NCBI
T2T-CHM13v2.0867,599,967 - 67,770,273 (-)NCBI
RefSeq Acc Id: NM_001413188   ⟹   NP_001400117
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,197,658 - 67,343,781 (-)NCBI
T2T-CHM13v2.0867,624,118 - 67,770,273 (-)NCBI
RefSeq Acc Id: NM_001413189   ⟹   NP_001400118
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,197,658 - 67,343,781 (-)NCBI
T2T-CHM13v2.0867,624,118 - 67,770,273 (-)NCBI
RefSeq Acc Id: NM_001413190   ⟹   NP_001400119
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,197,658 - 67,343,781 (-)NCBI
T2T-CHM13v2.0867,624,118 - 67,770,273 (-)NCBI
RefSeq Acc Id: NM_001413191   ⟹   NP_001400120
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,197,658 - 67,343,781 (-)NCBI
T2T-CHM13v2.0867,624,118 - 67,770,273 (-)NCBI
RefSeq Acc Id: NM_001413192   ⟹   NP_001400121
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,197,658 - 67,343,781 (-)NCBI
T2T-CHM13v2.0867,624,118 - 67,770,273 (-)NCBI
RefSeq Acc Id: NM_001413193   ⟹   NP_001400122
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,199,890 - 67,343,781 (-)NCBI
T2T-CHM13v2.0867,626,350 - 67,770,273 (-)NCBI
RefSeq Acc Id: NM_001413194   ⟹   NP_001400123
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,199,890 - 67,343,781 (-)NCBI
T2T-CHM13v2.0867,626,350 - 67,770,273 (-)NCBI
RefSeq Acc Id: NM_001413195   ⟹   NP_001400124
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,224,689 - 67,343,781 (-)NCBI
T2T-CHM13v2.0867,651,150 - 67,770,273 (-)NCBI
RefSeq Acc Id: NM_001413196   ⟹   NP_001400125
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,197,658 - 67,343,781 (-)NCBI
T2T-CHM13v2.0867,624,118 - 67,770,273 (-)NCBI
RefSeq Acc Id: NM_001413197   ⟹   NP_001400126
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,197,658 - 67,343,781 (-)NCBI
T2T-CHM13v2.0867,624,118 - 67,770,273 (-)NCBI
RefSeq Acc Id: NM_006421   ⟹   NP_006412
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,197,658 - 67,343,781 (-)NCBI
GRCh37868,085,746 - 68,255,912 (-)NCBI
Build 36868,272,451 - 68,418,466 (-)NCBI Archive
HuRef863,601,813 - 63,748,371 (-)NCBI
CHM1_1868,165,896 - 68,311,968 (-)NCBI
T2T-CHM13v2.0867,624,118 - 67,770,273 (-)NCBI
Sequence:
RefSeq Acc Id: NR_182117
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,197,658 - 67,343,781 (-)NCBI
T2T-CHM13v2.0867,624,118 - 67,770,273 (-)NCBI
RefSeq Acc Id: XM_047421266   ⟹   XP_047277222
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,197,658 - 67,343,781 (-)NCBI
RefSeq Acc Id: XM_054359587   ⟹   XP_054215562
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0867,624,118 - 67,770,273 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001400113 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400114 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400115 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400116 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400117 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400118 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400119 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400120 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400121 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400122 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400123 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400124 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400125 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400126 (Get FASTA)   NCBI Sequence Viewer  
  NP_006412 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277222 (Get FASTA)   NCBI Sequence Viewer  
  XP_054215562 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD38427 (Get FASTA)   NCBI Sequence Viewer  
  AAD43651 (Get FASTA)   NCBI Sequence Viewer  
  BAA91912 (Get FASTA)   NCBI Sequence Viewer  
  BAD92561 (Get FASTA)   NCBI Sequence Viewer  
  BAG51091 (Get FASTA)   NCBI Sequence Viewer  
  CAB55931 (Get FASTA)   NCBI Sequence Viewer  
  EAW86935 (Get FASTA)   NCBI Sequence Viewer  
  EAW86936 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000262215
  ENSP00000262215.3
  ENSP00000428429
  ENSP00000428429.2
  ENSP00000429002.1
  ENSP00000429560.2
  ENSP00000430891.2
GenBank Protein Q9Y6D6 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_006412   ⟸   NM_006421
- Peptide Label: isoform 1
- UniProtKB: Q9Y6D6 (UniProtKB/Swiss-Prot),   Q9UFV2 (UniProtKB/Swiss-Prot),   Q9NV46 (UniProtKB/Swiss-Prot),   Q9UNL0 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000429560   ⟸   ENST00000518789
Ensembl Acc Id: ENSP00000430891   ⟸   ENST00000518230
Ensembl Acc Id: ENSP00000429002   ⟸   ENST00000519436
Ensembl Acc Id: ENSP00000428429   ⟸   ENST00000520381
Ensembl Acc Id: ENSP00000262215   ⟸   ENST00000262215
RefSeq Acc Id: XP_047277222   ⟸   XM_047421266
- Peptide Label: isoform X1
RefSeq Acc Id: NP_001400115   ⟸   NM_001413186
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001400116   ⟸   NM_001413187
- Peptide Label: isoform 4
RefSeq Acc Id: NP_001400114   ⟸   NM_001413185
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001400113   ⟸   NM_001413184
- Peptide Label: isoform 1
- UniProtKB: Q9Y6D6 (UniProtKB/Swiss-Prot),   Q9UFV2 (UniProtKB/Swiss-Prot),   Q9NV46 (UniProtKB/Swiss-Prot),   Q9UNL0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001400117   ⟸   NM_001413188
- Peptide Label: isoform 5
RefSeq Acc Id: NP_001400126   ⟸   NM_001413197
- Peptide Label: isoform 5
RefSeq Acc Id: NP_001400125   ⟸   NM_001413196
- Peptide Label: isoform 12
- UniProtKB: Q59FY5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001400119   ⟸   NM_001413190
- Peptide Label: isoform 6
RefSeq Acc Id: NP_001400121   ⟸   NM_001413192
- Peptide Label: isoform 8
RefSeq Acc Id: NP_001400118   ⟸   NM_001413189
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001400120   ⟸   NM_001413191
- Peptide Label: isoform 7
RefSeq Acc Id: NP_001400123   ⟸   NM_001413194
- Peptide Label: isoform 10
RefSeq Acc Id: NP_001400122   ⟸   NM_001413193
- Peptide Label: isoform 9
RefSeq Acc Id: NP_001400124   ⟸   NM_001413195
- Peptide Label: isoform 11
RefSeq Acc Id: XP_054215562   ⟸   XM_054359587
- Peptide Label: isoform X1
Protein Domains
Mon2/Sec7/BIG1-like dimerisation and cyclophilin-   Mon2/Sec7/BIG1-like HDS   SEC7   Sec7/BIG1-like C-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y6D6-F1-model_v2 AlphaFold Q9Y6D6 1-1849 view protein structure

Promoters
RGD ID:7213459
Promoter ID:EPDNEW_H12475
Type:initiation region
Name:ARFGEF1_2
Description:ADP ribosylation factor guanine nucleotide exchange factor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12476  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,343,338 - 67,343,398EPDNEW
RGD ID:7213461
Promoter ID:EPDNEW_H12476
Type:initiation region
Name:ARFGEF1_1
Description:ADP ribosylation factor guanine nucleotide exchange factor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12475  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,343,781 - 67,343,841EPDNEW
RGD ID:6806501
Promoter ID:HG_KWN:61445
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_006421
Position:
Human AssemblyChrPosition (strand)Source
Build 36868,418,376 - 68,418,876 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15772 AgrOrtholog
COSMIC ARFGEF1 COSMIC
Ensembl Genes ENSG00000066777 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000262215 ENTREZGENE
  ENST00000262215.8 UniProtKB/Swiss-Prot
  ENST00000518230.5 UniProtKB/TrEMBL
  ENST00000518789.5 UniProtKB/TrEMBL
  ENST00000519436.1 UniProtKB/TrEMBL
  ENST00000520381 ENTREZGENE
  ENST00000520381.5 UniProtKB/TrEMBL
Gene3D-CATH 1.10.1000.11 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.10.220.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.25.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000066777 GTEx
HGNC ID HGNC:15772 ENTREZGENE
Human Proteome Map ARFGEF1 Human Proteome Map
InterPro ARM-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ARM-type_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DCB_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sec7/BIG1-like_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sec7_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sec7_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sec7_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sec7_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sec7_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10565 UniProtKB/Swiss-Prot
NCBI Gene 10565 ENTREZGENE
OMIM 604141 OMIM
PANTHER BREFELDIN A-INHIBITED GUANINE NUCLEOTIDE-EXCHANGE PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GUANYL-NUCLEOTIDE EXCHANGE FACTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam BIG2_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DCB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DUF1981 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sec7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sec7_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134908197 PharmGKB
PROSITE SEC7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Sec7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48371 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF48425 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt BIG1_HUMAN UniProtKB/Swiss-Prot
  E5RHL7_HUMAN UniProtKB/TrEMBL
  E5RHZ1_HUMAN UniProtKB/TrEMBL
  E5RIF2_HUMAN UniProtKB/TrEMBL
  E5RJN9_HUMAN UniProtKB/TrEMBL
  Q59FY5 ENTREZGENE, UniProtKB/TrEMBL
  Q9NV46 ENTREZGENE
  Q9UFV2 ENTREZGENE
  Q9UNL0 ENTREZGENE
  Q9Y6D6 ENTREZGENE
UniProt Secondary Q9NV46 UniProtKB/Swiss-Prot
  Q9UFV2 UniProtKB/Swiss-Prot
  Q9UNL0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2024-10-31 ARFGEF1  ARF guanine nucleotide exchange factor 1  ARFGEF1  ADP ribosylation factor guanine nucleotide exchange factor 1  Symbol and/or name change 19259463 PROVISIONAL
2015-11-24 ARFGEF1  ADP ribosylation factor guanine nucleotide exchange factor 1  ARFGEF1  ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)  Symbol and/or name change 5135510 APPROVED
2011-08-23 ARFGEF1  ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)  ARFGEF1  ADP-ribosylation factor guanine nucleotide-exchange factor 1(brefeldin A-inhibited)  Symbol and/or name change 5135510 APPROVED