CACNA1G (calcium voltage-gated channel subunit alpha1 G) - Rat Genome Database

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Gene: CACNA1G (calcium voltage-gated channel subunit alpha1 G) Homo sapiens
Analyze
Symbol: CACNA1G
Name: calcium voltage-gated channel subunit alpha1 G
RGD ID: 68989
HGNC Page HGNC:1394
Description: Enables low voltage-gated calcium channel activity and scaffold protein binding activity. Involved in calcium ion import; calcium ion transmembrane transport; and regulation of membrane potential. Located in cytoplasm and plasma membrane. Implicated in cerebellar ataxia type 42.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: Ca(V)T.1; calcium channel, voltage-dependent, alpha 1G subunit; calcium channel, voltage-dependent, T type, alpha 1G subunit; calcium channel, voltage-dependent, T type, alpha-1G subunit; Cav3.1; cav3.1c; MGC117234; NBR13; SCA42; SCA42ND; voltage-dependent calcium channel alpha 1G subunit; voltage-dependent calcium channel alpha 1G subunit, isoform 11; voltage-dependent T-type calcium channel alpha 1G subunit; voltage-dependent T-type calcium channel subunit alpha-1G; voltage-gated calcium channel subunit alpha Cav3.1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381750,560,715 - 50,627,474 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1750,560,715 - 50,627,474 (+)EnsemblGRCh38hg38GRCh38
GRCh371748,638,076 - 48,704,835 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361745,993,448 - 46,059,541 (+)NCBINCBI36Build 36hg18NCBI36
Build 341745,993,447 - 46,038,832NCBI
Celera1745,099,811 - 45,165,917 (+)NCBICelera
Cytogenetic Map17q21.33NCBI
HuRef1744,006,381 - 44,072,836 (+)NCBIHuRef
CHM1_11748,702,306 - 48,768,826 (+)NCBICHM1_1
T2T-CHM13v2.01751,427,851 - 51,494,639 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-amphetamine  (ISO)
1,2-dichloroethane  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
3-methylcholanthrene  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
acrylamide  (ISO)
actinomycin D  (ISO)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
allethrin  (ISO)
ammonium chloride  (ISO)
androgen antagonist  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
barium(0)  (EXP)
benzo[a]pyrene  (EXP)
benzo[e]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
Butylparaben  (ISO)
C60 fullerene  (ISO)
cadmium dichloride  (ISO)
calcium atom  (ISO)
calcium(0)  (ISO)
cannabidiol  (ISO)
cerium  (EXP)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
choline  (ISO)
cisplatin  (EXP)
colforsin daropate hydrochloride  (ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
Cuprizon  (ISO)
daunorubicin  (EXP)
DDE  (ISO)
diazinon  (EXP)
dibutyl phthalate  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
entinostat  (EXP)
enzacamene  (ISO)
epoxiconazole  (ISO)
erbium  (EXP)
ethanol  (ISO)
fluoxetine  (ISO)
folic acid  (ISO)
fulvestrant  (EXP)
gadolinium atom  (EXP)
genistein  (ISO)
holmium atom  (EXP)
indole-3-methanol  (ISO)
L-methionine  (ISO)
lanthanum atom  (EXP)
linuron  (ISO)
menadione  (EXP)
methapyrilene  (EXP)
methylmercury chloride  (EXP)
Mibefradil  (EXP,ISO)
mitoxantrone  (EXP)
N,N-diethyl-m-toluamide  (ISO)
N-acetyl-L-cysteine  (ISO)
N-nitrosodiethylamine  (ISO)
neodymium atom  (EXP)
nickel atom  (ISO)
ozone  (ISO)
p-menthan-3-ol  (EXP)
paracetamol  (ISO)
pentanal  (EXP)
permethrin  (ISO)
phorbol 13-acetate 12-myristate  (ISO)
potassium dichromate  (ISO)
prochloraz  (ISO)
procymidone  (ISO)
progesterone  (EXP,ISO)
propanal  (EXP)
SB 203580  (ISO)
SB 431542  (EXP)
scandium atom  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (ISO)
tamoxifen  (ISO)
telmisartan  (ISO)
titanium dioxide  (ISO)
toluene  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (ISO)
triptonide  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
ytterbium  (EXP)
yttrium atom  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
acebutolol pharmacodynamics pathway   (EXP)
adrenergic beta receptor agonist and beta-blocker pharmacodynamics pathway  (EXP)
amiodarone pharmacodynamics pathway  (EXP)
amlodipine pharmacodynamics pathway  (EXP)
atenolol pharmacodynamics pathway  (EXP)
betaxolol pharmacodynamics pathway  (EXP)
bisoprolol pharmacodynamics pathway  (EXP)
bupranolol drug pathway  (EXP)
bupranolol pharmacodynamics pathway   (EXP)
calcium transport pathway   (TAS)
calcium/calcium-mediated signaling pathway  (TAS)
carvedilol pharmacodynamics pathway  (EXP)
diltiazem pharmacodynamics pathway  (EXP)
disopyramide pharmacodynamics pathway  (EXP)
dobutamine pharmacodynamics pathway  (EXP)
esmolol pharmacodynamics pathway  (EXP)
flecainde pharmacodynamics pathway  (EXP)
fosphenytoin pharmacodynamics pathway  (EXP)
ibutilide pharmacodynamics pathway  (EXP)
isoprenaline pharmacodynamics pathway  (EXP)
isradipine pharmacodynamics pathway  (EXP)
levobunolol pharmacodynamics pathway  (EXP)
lidocaine pharmacodynamics pathway  (EXP)
metoprolol pharmacodynamics pathway  (EXP)
mexiletine pharmacodynamics pathway   (EXP)
mitogen activated protein kinase signaling pathway  (IEA)
nadolol pharmacodynamics pathway  (EXP)
nebivolol pharmacodynamics pathway  (EXP)
nifedipine pharmacodynamics pathway  (EXP)
nimodipine pharmacodynamics pathway  (EXP)
nisoldipine pharmacodynamics pathway  (EXP)
nitrendipine pharmacodynamics pathway  (EXP)
penbutolol pharmacodynamics pathway  (EXP)
phenytoin pharmacodynamics pathway  (EXP)
pindolol pharmacodynamics pathway  (EXP)
procainamide pharmacodynamics pathway  (EXP)
propranolol pharmacodynamics pathway  (EXP)
quinidine pharmacodynamics pathway  (EXP)
sotalol pharmacodynamics pathway  (EXP)
timolol pharmacodynamics pathway   (EXP)
type 2 diabetes mellitus pathway  (IEA)
verapamil pharmacodynamics pathway  (EXP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cerebellum morphology  (IAGP)
Abnormal pyramidal sign  (IAGP)
Alzheimer disease  (IAGP)
Anteverted ears  (IAGP)
Ataxia  (IAGP)
Atrophy/Degeneration affecting the brainstem  (IAGP)
Autosomal dominant inheritance  (IAGP)
Axial hypotonia  (IAGP)
Babinski sign  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebellar hypoplasia  (IAGP)
Cerebellar vermis atrophy  (IAGP)
Clinodactyly  (IAGP)
Cognitive impairment  (IAGP)
Deeply set eye  (IAGP)
Delayed early-childhood social milestone development  (IAGP)
Delayed fine motor development  (IAGP)
Delayed gross motor development  (IAGP)
Delayed speech and language development  (IAGP)
Depression  (IAGP)
Diplopia  (IAGP)
Dysarthria  (IAGP)
Dysmetria  (IAGP)
Dysphagia  (IAGP)
Dystonia  (IAGP)
Eyelid myokymia  (IAGP)
Gait ataxia  (IAGP)
Gaze-evoked horizontal nystagmus  (IAGP)
Global developmental delay  (IAGP)
Head tremor  (IAGP)
Hirsutism  (IAGP)
Horizontal nystagmus  (IAGP)
Hyperintensity of cerebral white matter on MRI  (IAGP)
Hypermetropia  (IAGP)
Hyperreflexia  (IAGP)
Hypertelorism  (IAGP)
Hypometric saccades  (IAGP)
Impaired vibration sensation at ankles  (IAGP)
Impotence  (IAGP)
Inability to walk  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Limb hypertonia  (IAGP)
Loss of Purkinje cells in the cerebellar vermis  (IAGP)
Mandibular prognathia  (IAGP)
Microcephaly  (IAGP)
Multifocal epileptiform discharges  (IAGP)
Narrow palpebral fissure  (IAGP)
Neonatal onset  (IAGP)
Neurodevelopmental abnormality  (IAGP)
Neurodevelopmental delay  (IAGP)
Nystagmus  (IAGP)
Oculomotor apraxia  (IAGP)
Poor head control  (IAGP)
Psoriasiform dermatitis  (IAGP)
Reduced brain N-acetyl aspartate level by MRS  (IAGP)
Resting tremor  (IAGP)
Saccadic smooth pursuit  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Short nose  (IAGP)
Slowly progressive  (IAGP)
Sparse hair  (IAGP)
Spastic ataxia  (IAGP)
Spastic gait  (IAGP)
Spasticity  (IAGP)
Strabismus  (IAGP)
Syndactyly  (IAGP)
Tremor  (IAGP)
Unsteady gait  (IAGP)
Upper limb postural tremor  (IAGP)
Upslanted palpebral fissure  (IAGP)
Urinary incontinence  (IAGP)
Urinary urgency  (IAGP)
Vertigo  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Voltage-gated calcium channels. Catterall WA Cold Spring Harb Perspect Biol. 2011 Aug 1;3(8):a003947. doi: 10.1101/cshperspect.a003947.
2. Angiotensin II signaling pathways mediate expression of cardiac T-type calcium channels. Ferron L, etal., Circ Res. 2003 Dec 12;93(12):1241-8. Epub 2003 Nov 13.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. Molecular and functional characterization of a family of rat brain T-type calcium channels. McRory JE, etal., J Biol Chem 2001 Feb 9;276(6):3999-4011.
5. Vitamin D and calcium co-therapy mitigates pre-established cadmium nephropathy by regulating renal calcium homeostatic molecules and improving anti-oxidative and anti-inflammatory activities in rat. Obaid AA, etal., J Trace Elem Med Biol. 2023 May 24;79:127221. doi: 10.1016/j.jtemb.2023.127221.
6. Molecular characterization of a neuronal low-voltage-activated T-type calcium channel. Perez-Reyes E, etal., Nature 1998 Feb 26;391(6670):896-900.
7. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
8. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
9. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
10. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
11. Cloning of a T-type Ca2+ channel isoform in insulin-secreting cells. Zhuang H, etal., Diabetes 2000 Jan;49(1):59-64.
Additional References at PubMed
PMID:10493502   PMID:10548410   PMID:10574461   PMID:10648811   PMID:10692398   PMID:11927664   PMID:12168954   PMID:12477932   PMID:12676336   PMID:12752779   PMID:15465033   PMID:15774856  
PMID:16382099   PMID:16671074   PMID:16713569   PMID:17397049   PMID:17446221   PMID:17591929   PMID:18591418   PMID:18663131   PMID:18663132   PMID:18801335   PMID:19211869   PMID:19455149  
PMID:20416077   PMID:20435690   PMID:21084288   PMID:21438841   PMID:21788606   PMID:21873635   PMID:22469755   PMID:22572848   PMID:22574369   PMID:22973059   PMID:22973060   PMID:23488970  
PMID:23535033   PMID:24268883   PMID:24722188   PMID:26056284   PMID:26456284   PMID:26488564   PMID:26715324   PMID:26786210   PMID:27134080   PMID:28165634   PMID:28330839   PMID:28556246  
PMID:28655554   PMID:28800734   PMID:28806761   PMID:28846697   PMID:28972185   PMID:29385656   PMID:29509247   PMID:29720258   PMID:29878067   PMID:30403912   PMID:30575818   PMID:31091453  
PMID:31766050   PMID:31836334   PMID:32428730   PMID:32736238   PMID:32795940   PMID:32878331   PMID:33098379   PMID:33394292   PMID:34403092   PMID:34674590   PMID:35906200   PMID:37259724  
PMID:37311830  


Genomics

Comparative Map Data
CACNA1G
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381750,560,715 - 50,627,474 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1750,560,715 - 50,627,474 (+)EnsemblGRCh38hg38GRCh38
GRCh371748,638,076 - 48,704,835 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361745,993,448 - 46,059,541 (+)NCBINCBI36Build 36hg18NCBI36
Build 341745,993,447 - 46,038,832NCBI
Celera1745,099,811 - 45,165,917 (+)NCBICelera
Cytogenetic Map17q21.33NCBI
HuRef1744,006,381 - 44,072,836 (+)NCBIHuRef
CHM1_11748,702,306 - 48,768,826 (+)NCBICHM1_1
T2T-CHM13v2.01751,427,851 - 51,494,639 (+)NCBIT2T-CHM13v2.0
Cacna1g
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391194,299,217 - 94,365,226 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1194,299,217 - 94,365,024 (-)EnsemblGRCm39 Ensembl
GRCm381194,408,391 - 94,474,400 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1194,408,391 - 94,474,198 (-)EnsemblGRCm38mm10GRCm38
MGSCv371194,269,705 - 94,335,512 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361194,224,606 - 94,289,815 (-)NCBIMGSCv36mm8
Celera11104,027,102 - 104,094,565 (-)NCBICelera
Cytogenetic Map11DNCBI
cM Map1158.9NCBI
Cacna1g
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81079,851,886 - 79,919,926 (-)NCBIGRCr8
mRatBN7.21079,354,998 - 79,422,960 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1079,355,008 - 79,422,752 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1083,959,837 - 84,027,483 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01083,457,956 - 83,525,607 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01078,972,823 - 79,040,417 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01082,129,071 - 82,197,828 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1082,129,506 - 82,197,848 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01081,950,594 - 82,017,885 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41083,043,636 - 83,112,886 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11083,058,005 - 83,127,256 (-)NCBI
Celera1078,143,865 - 78,211,268 (-)NCBICelera
RH 3.4 Map10617.6RGD
Cytogenetic Map10q26NCBI
Cacna1g
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545111,137,214 - 11,194,036 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495545111,136,885 - 11,194,321 (-)NCBIChiLan1.0ChiLan1.0
CACNA1G
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21966,751,924 - 66,818,924 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11771,559,170 - 71,626,261 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01744,654,558 - 44,786,037 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11749,528,819 - 49,595,487 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1749,529,402 - 49,595,166 (+)Ensemblpanpan1.1panPan2
CACNA1G
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1926,481,148 - 26,544,511 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl926,481,652 - 26,544,845 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha925,874,088 - 25,937,055 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0927,275,576 - 27,338,562 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl927,275,746 - 27,338,504 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1926,043,294 - 26,106,242 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0926,301,905 - 26,364,906 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0926,432,081 - 26,495,083 (+)NCBIUU_Cfam_GSD_1.0
Cacna1g
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560225,917,385 - 25,981,187 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493649011,093,595 - 11,157,563 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493649011,093,600 - 11,157,756 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CACNA1G
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1226,844,079 - 26,912,110 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11226,838,633 - 26,912,344 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21226,991,543 - 27,052,231 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CACNA1G
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11642,710,640 - 42,776,736 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1642,708,638 - 42,768,843 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607713,424,552 - 13,494,447 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cacna1g
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247956,443,781 - 6,501,050 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247956,443,322 - 6,501,673 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CACNA1G
915 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_018896.5(CACNA1G):c.623T>C (p.Leu208Pro) single nucleotide variant not provided [RCV000522565] Chr17:50571914 [GRCh38]
Chr17:48649275 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_018896.5(CACNA1G):c.5941A>G (p.Met1981Val) single nucleotide variant not provided [RCV003321168] Chr17:50621675 [GRCh38]
Chr17:48699036 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3182C>T (p.Ala1061Val) single nucleotide variant not provided [RCV003321152] Chr17:50596847 [GRCh38]
Chr17:48674208 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3315C>A (p.Ser1105Arg) single nucleotide variant Juvenile myoclonic epilepsy [RCV000709835]|not provided [RCV000522451] Chr17:50599484 [GRCh38]
Chr17:48676845 [GRCh37]
Chr17:17q21.33		 uncertain significance|not provided
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2		 pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3		 pathogenic
GRCh38/hg38 17q21.32-22(chr17:49137864-52147810)x1 copy number loss See cases [RCV000053432] Chr17:49137864..52147810 [GRCh38]
Chr17:47215226..50225170 [GRCh37]
Chr17:44570225..47580169 [NCBI36]
Chr17:17q21.32-22		 pathogenic
GRCh38/hg38 17q21.33-22(chr17:49974533-56807609)x1 copy number loss See cases [RCV000053433] Chr17:49974533..56807609 [GRCh38]
Chr17:48051897..54884970 [GRCh37]
Chr17:45406896..52239969 [NCBI36]
Chr17:17q21.33-22		 pathogenic
NM_018896.4(CACNA1G):c.2757C>T (p.Ile919=) single nucleotide variant Malignant melanoma [RCV000071564] Chr17:50591939 [GRCh38]
Chr17:48669300 [GRCh37]
Chr17:46024299 [NCBI36]
Chr17:17q21.33		 not provided
NM_018896.4(CACNA1G):c.4852A>C (p.Thr1618Pro) single nucleotide variant Malignant melanoma [RCV000071565] Chr17:50615453 [GRCh38]
Chr17:48692814 [GRCh37]
Chr17:46047813 [NCBI36]
Chr17:17q21.33		 not provided
NM_018896.5(CACNA1G):c.3265G>A (p.Ala1089Thr) single nucleotide variant CACNA1G-related condition [RCV003408218]|not provided [RCV002292957] Chr17:50599434 [GRCh38]
Chr17:48676795 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_018896.4(CACNA1G):c.662_664delTCT (p.Phe223del) deletion not provided [RCV000171486] Chr17:50571953..50571955 [GRCh38]
Chr17:48649314..48649316 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_018896.5(CACNA1G):c.1654T>C (p.Ser552Pro) single nucleotide variant Spinocerebellar ataxia type 42 [RCV001332287]|not provided [RCV002546547] Chr17:50576056 [GRCh38]
Chr17:48653417 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_018896.5(CACNA1G):c.2128A>T (p.Ser710Cys) single nucleotide variant Inborn genetic diseases [RCV000190706]|not provided [RCV001797062] Chr17:50578391 [GRCh38]
Chr17:48655752 [GRCh37]
Chr17:17q21.33		 conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1		 pathogenic
NM_018896.5(CACNA1G):c.664TTC[1] (p.Phe223del) microsatellite Abnormality of the skeletal system [RCV000162106]|not provided [RCV000171486] Chr17:50571953..50571955 [GRCh38]
Chr17:48649314..48649316 [GRCh37]
Chr17:17q21.33		 likely pathogenic|likely benign|no classifications from unflagged records
NM_018896.5(CACNA1G):c.5144G>A (p.Arg1715His) single nucleotide variant CACNA1G-related disorders [RCV000509294]|Spinocerebellar ataxia type 42 [RCV000207440]|Spinocerebellar ataxia type 42 [RCV000763013]|not provided [RCV001267950] Chr17:50617560 [GRCh38]
Chr17:48694921 [GRCh37]
Chr17:17q21.33		 pathogenic|not provided
NM_018896.5(CACNA1G):c.2599A>C (p.Thr867Pro) single nucleotide variant not provided [RCV000255872] Chr17:50591580 [GRCh38]
Chr17:48668941 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_018896.5(CACNA1G):c.6710C>A (p.Pro2237His) single nucleotide variant not provided [RCV000908431]|not specified [RCV000265666] Chr17:50626327 [GRCh38]
Chr17:48703688 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_018896.5(CACNA1G):c.2881G>A (p.Ala961Thr) single nucleotide variant Inborn genetic diseases [RCV000624028]|Neurodevelopmental abnormality [RCV001264626]|Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits [RCV000677308]|not provided [RCV000263291] Chr17:50592063 [GRCh38]
Chr17:48669424 [GRCh37]
Chr17:17q21.33		 pathogenic|uncertain significance
NM_018896.5(CACNA1G):c.6949G>A (p.Glu2317Lys) single nucleotide variant Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits [RCV001196437]|not provided [RCV000489205] Chr17:50626566 [GRCh38]
Chr17:48703927 [GRCh37]
Chr17:17q21.33		 likely pathogenic|uncertain significance
NM_018896.5(CACNA1G):c.2979G>C (p.Gly993=) single nucleotide variant not provided [RCV000520227] Chr17:50595061 [GRCh38]
Chr17:48672422 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3196_3198dup (p.Ser1066_Arg1067insSer) duplication not provided [RCV003239018] Chr17:50596858..50596859 [GRCh38]
Chr17:48674219..48674220 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3258G>A (p.Pro1086=) single nucleotide variant not provided [RCV003239107] Chr17:50596923 [GRCh38]
Chr17:48674284 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2476C>T (p.Gln826Ter) single nucleotide variant not provided [RCV000578694] Chr17:50591457 [GRCh38]
Chr17:48668818 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.7066C>T (p.Pro2356Ser) single nucleotide variant Inborn genetic diseases [RCV002521479]|not provided [RCV000416033] Chr17:50626683 [GRCh38]
Chr17:48704044 [GRCh37]
Chr17:17q21.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_018896.5(CACNA1G):c.5873dup (p.Gln1959fs) duplication not specified [RCV000414215] Chr17:50619769..50619770 [GRCh38]
Chr17:48697130..48697131 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1741G>A (p.Gly581Ser) single nucleotide variant not provided [RCV000423699] Chr17:50576143 [GRCh38]
Chr17:48653504 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.4778A>G (p.Tyr1593Cys) single nucleotide variant not provided [RCV000423907] Chr17:50615379 [GRCh38]
Chr17:48692740 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.4834T>C (p.Tyr1612His) single nucleotide variant not provided [RCV000434411] Chr17:50615435 [GRCh38]
Chr17:48692796 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6340A>T (p.Ile2114Phe) single nucleotide variant not provided [RCV000424193] Chr17:50624470 [GRCh38]
Chr17:48701831 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.77C>G (p.Ser26Trp) single nucleotide variant not provided [RCV000431501] Chr17:50561536 [GRCh38]
Chr17:48638897 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1591C>A (p.Arg531=) single nucleotide variant Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits [RCV001554551]|Spinocerebellar ataxia type 42 [RCV001554550]|not provided [RCV002524755]|not specified [RCV000434902] Chr17:50575993 [GRCh38]
Chr17:48653354 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.3053A>C (p.Lys1018Thr) single nucleotide variant not provided [RCV000439234] Chr17:50596635 [GRCh38]
Chr17:48673996 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1771C>T (p.Pro591Ser) single nucleotide variant not provided [RCV000439746] Chr17:50576173 [GRCh38]
Chr17:48653534 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.305G>A (p.Arg102Gln) single nucleotide variant not provided [RCV000443532] Chr17:50568932 [GRCh38]
Chr17:48646293 [GRCh37]
Chr17:17q21.33		 conflicting interpretations of pathogenicity|uncertain significance
NM_018896.5(CACNA1G):c.262A>G (p.Met88Val) single nucleotide variant not provided [RCV000436422] Chr17:50568889 [GRCh38]
Chr17:48646250 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.825C>T (p.Arg275=) single nucleotide variant not provided [RCV000439953] Chr17:50572632 [GRCh38]
Chr17:48649993 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1556C>T (p.Pro519Leu) single nucleotide variant not provided [RCV000433425] Chr17:50575958 [GRCh38]
Chr17:48653319 [GRCh37]
Chr17:17q21.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_018896.5(CACNA1G):c.6902G>A (p.Arg2301Gln) single nucleotide variant Inborn genetic diseases [RCV002525353]|not provided [RCV000430186] Chr17:50626519 [GRCh38]
Chr17:48703880 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_018896.5(CACNA1G):c.3553C>T (p.Arg1185Cys) single nucleotide variant not provided [RCV000426794]|not specified [RCV003235212] Chr17:50599722 [GRCh38]
Chr17:48677083 [GRCh37]
Chr17:17q21.33		 conflicting interpretations of pathogenicity|uncertain significance
NM_018896.5(CACNA1G):c.2576T>G (p.Met859Arg) single nucleotide variant not provided [RCV000430758] Chr17:50591557 [GRCh38]
Chr17:48668918 [GRCh37]
Chr17:17q21.33		 uncertain significance
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3		 pathogenic
NM_018896.5(CACNA1G):c.5671C>A (p.Leu1891Ile) single nucleotide variant not provided [RCV000483530] Chr17:50618898 [GRCh38]
Chr17:48696259 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1890C>G (p.Ser630Arg) single nucleotide variant not provided [RCV000482910] Chr17:50576292 [GRCh38]
Chr17:48653653 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_018896.5(CACNA1G):c.7047del (p.Asp2350fs) deletion not provided [RCV000480790] Chr17:50626664 [GRCh38]
Chr17:48704025 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6338C>A (p.Thr2113Asn) single nucleotide variant not provided [RCV000480900] Chr17:50624468 [GRCh38]
Chr17:48701829 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1810_1812del (p.Glu604del) deletion not provided [RCV000486158] Chr17:50576210..50576212 [GRCh38]
Chr17:48653571..48653573 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2965G>A (p.Val989Ile) single nucleotide variant not provided [RCV000478602] Chr17:50595047 [GRCh38]
Chr17:48672408 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2558G>A (p.Arg853Gln) single nucleotide variant not provided [RCV000493653] Chr17:50591539 [GRCh38]
Chr17:48668900 [GRCh37]
Chr17:17q21.33		 likely pathogenic|uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_018896.5(CACNA1G):c.3178G>T (p.Glu1060Ter) single nucleotide variant not provided [RCV000493378] Chr17:50596843 [GRCh38]
Chr17:48674204 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.4786G>A (p.Asp1596Asn) single nucleotide variant not provided [RCV003327991] Chr17:50615387 [GRCh38]
Chr17:48692748 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2454-12C>T single nucleotide variant not specified [RCV000601810] Chr17:50591423 [GRCh38]
Chr17:48668784 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.3222G>A (p.Ser1074=) single nucleotide variant not specified [RCV000616350] Chr17:50596887 [GRCh38]
Chr17:48674248 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.4513-6C>T single nucleotide variant CACNA1G-related condition [RCV003966303]|Inborn genetic diseases [RCV003242358]|not provided [RCV003410328] Chr17:50607821 [GRCh38]
Chr17:48685182 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_018896.5(CACNA1G):c.3713C>T (p.Ala1238Val) single nucleotide variant Inborn genetic diseases [RCV000622664]|not provided [RCV003546582] Chr17:50600748 [GRCh38]
Chr17:48678109 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q21.32-22(chr17:46481089-51396368)x1 copy number loss not provided [RCV000513510] Chr17:46481089..51396368 [GRCh37]
Chr17:17q21.32-22		 likely pathogenic
NM_018896.5(CACNA1G):c.760G>A (p.Asp254Asn) single nucleotide variant not provided [RCV000658144] Chr17:50572567 [GRCh38]
Chr17:48649928 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2860G>A (p.Val954Met) single nucleotide variant Inborn genetic diseases [RCV003163030]|not provided [RCV000658185] Chr17:50592042 [GRCh38]
Chr17:48669403 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.4972T>C (p.Ser1658Pro) single nucleotide variant Spinocerebellar ataxia type 42 [RCV000662175] Chr17:50616335 [GRCh38]
Chr17:48693696 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.4591A>G (p.Met1531Val) single nucleotide variant Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits [RCV000677309] Chr17:50607905 [GRCh38]
Chr17:48685266 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_018896.5(CACNA1G):c.344G>A (p.Arg115Gln) single nucleotide variant Spinocerebellar ataxia type 42 [RCV000714611] Chr17:50568971 [GRCh38]
Chr17:48646332 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.544G>C (p.Val182Leu) single nucleotide variant Spinocerebellar ataxia type 42 [RCV000714702] Chr17:50569761 [GRCh38]
Chr17:48647122 [GRCh37]
Chr17:17q21.33		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_018896.5(CACNA1G):c.5021+145C>A single nucleotide variant not provided [RCV001732395] Chr17:50616529 [GRCh38]
Chr17:48693890 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.5022-53del deletion not provided [RCV001732694] Chr17:50617385 [GRCh38]
Chr17:48694746 [GRCh37]
Chr17:17q21.33		 likely benign
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_018896.5(CACNA1G):c.5021+15G>C single nucleotide variant not provided [RCV001610894] Chr17:50616399 [GRCh38]
Chr17:48693760 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.7080A>G (p.Lys2360=) single nucleotide variant CACNA1G-related condition [RCV003960721]|not provided [RCV000962526] Chr17:50626697 [GRCh38]
Chr17:48704058 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_018896.5(CACNA1G):c.6951G>A (p.Glu2317=) single nucleotide variant not provided [RCV000918139] Chr17:50626568 [GRCh38]
Chr17:48703929 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_018896.5(CACNA1G):c.5395T>A (p.Ser1799Thr) single nucleotide variant Spastic ataxia [RCV001647186] Chr17:50618311 [GRCh38]
Chr17:48695672 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_018896.5(CACNA1G):c.5960_5961delinsAC (p.Thr1987Asn) indel Spinocerebellar ataxia type 42 [RCV001647193] Chr17:50621694..50621695 [GRCh38]
Chr17:48699055..48699056 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_018896.5(CACNA1G):c.3168G>C (p.Thr1056=) single nucleotide variant not provided [RCV000914036] Chr17:50596833 [GRCh38]
Chr17:48674194 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.1443C>T (p.Ser481=) single nucleotide variant not provided [RCV000914086] Chr17:50575845 [GRCh38]
Chr17:48653206 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.1879G>A (p.Gly627Arg) single nucleotide variant not provided [RCV000891637] Chr17:50576281 [GRCh38]
Chr17:48653642 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_018896.5(CACNA1G):c.1425G>A (p.Glu475=) single nucleotide variant not provided [RCV000894281] Chr17:50575827 [GRCh38]
Chr17:48653188 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.1141-29A>G single nucleotide variant Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits [RCV001554549]|Spinocerebellar ataxia type 42 [RCV001554548]|not provided [RCV001713050] Chr17:50575514 [GRCh38]
Chr17:48652875 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.2453+108A>C single nucleotide variant not provided [RCV001648708] Chr17:50590730 [GRCh38]
Chr17:48668091 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.732T>C (p.Pro244=) single nucleotide variant not provided [RCV000916572] Chr17:50572023 [GRCh38]
Chr17:48649384 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.593G>A (p.Arg198His) single nucleotide variant not provided [RCV000761994] Chr17:50571884 [GRCh38]
Chr17:48649245 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2547G>A (p.Pro849=) single nucleotide variant not provided [RCV003238979] Chr17:50591528 [GRCh38]
Chr17:48668889 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6774T>C (p.Pro2258=) single nucleotide variant Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits [RCV001554557]|Spinocerebellar ataxia type 42 [RCV001554556]|not provided [RCV001658291] Chr17:50626391 [GRCh38]
Chr17:48703752 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.1501C>T (p.His501Tyr) single nucleotide variant Spinocerebellar ataxia type 42 [RCV003232378]|not provided [RCV001552320] Chr17:50575903 [GRCh38]
Chr17:48653264 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2020G>A (p.Gly674Arg) single nucleotide variant not provided [RCV000925627] Chr17:50578283 [GRCh38]
Chr17:48655644 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.2487C>T (p.Gly829=) single nucleotide variant not provided [RCV000879839] Chr17:50591468 [GRCh38]
Chr17:48668829 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.746+8G>T single nucleotide variant not provided [RCV000926700] Chr17:50572045 [GRCh38]
Chr17:48649406 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.1953C>T (p.Ser651=) single nucleotide variant not provided [RCV000965389] Chr17:50578216 [GRCh38]
Chr17:48655577 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_018896.5(CACNA1G):c.3704G>A (p.Arg1235Gln) single nucleotide variant CACNA1G-related condition [RCV003918421]|not provided [RCV000969923] Chr17:50600739 [GRCh38]
Chr17:48678100 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_018896.5(CACNA1G):c.354+5GT[14] microsatellite not provided [RCV000947838] Chr17:50568986..50568987 [GRCh38]
Chr17:48646347..48646348 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.1589G>A (p.Arg530His) single nucleotide variant Spinocerebellar ataxia type 42 [RCV002503090]|not provided [RCV000972919] Chr17:50575991 [GRCh38]
Chr17:48653352 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_018896.5(CACNA1G):c.5100G>A (p.Ser1700=) single nucleotide variant CACNA1G-related condition [RCV003936154]|not provided [RCV000972921] Chr17:50617516 [GRCh38]
Chr17:48694877 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.3651C>T (p.Pro1217=) single nucleotide variant not provided [RCV000980975] Chr17:50599820 [GRCh38]
Chr17:48677181 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.4630C>A (p.Arg1544=) single nucleotide variant not provided [RCV000881773] Chr17:50607944 [GRCh38]
Chr17:48685305 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_018896.5(CACNA1G):c.3691-6C>G single nucleotide variant not provided [RCV000903858] Chr17:50600720 [GRCh38]
Chr17:48678081 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_018896.5(CACNA1G):c.1608A>G (p.Pro536=) single nucleotide variant not provided [RCV000899798] Chr17:50576010 [GRCh38]
Chr17:48653371 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.6298C>T (p.Pro2100Ser) single nucleotide variant CACNA1G-related condition [RCV003942848]|not provided [RCV000922195] Chr17:50624428 [GRCh38]
Chr17:48701789 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_018896.5(CACNA1G):c.6965G>A (p.Arg2322Gln) single nucleotide variant CACNA1G-related condition [RCV003910427]|not provided [RCV000883457] Chr17:50626582 [GRCh38]
Chr17:48703943 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.867C>T (p.Arg289=) single nucleotide variant not provided [RCV000903807] Chr17:50572674 [GRCh38]
Chr17:48650035 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.4020G>C (p.Ala1340=) single nucleotide variant not provided [RCV000965390] Chr17:50603050 [GRCh38]
Chr17:48680411 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.4084C>T (p.Leu1362=) single nucleotide variant not provided [RCV000884756] Chr17:50603114 [GRCh38]
Chr17:48680475 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_018896.5(CACNA1G):c.5923C>G (p.Gln1975Glu) single nucleotide variant not provided [RCV000929367] Chr17:50619824 [GRCh38]
Chr17:48697185 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.2661C>T (p.Phe887=) single nucleotide variant not provided [RCV000929124] Chr17:50591760 [GRCh38]
Chr17:48669121 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.123G>C (p.Pro41=) single nucleotide variant not provided [RCV000996578] Chr17:50561582 [GRCh38]
Chr17:48638943 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_018896.5(CACNA1G):c.1924G>A (p.Gly642Ser) single nucleotide variant not provided [RCV000996579] Chr17:50576326 [GRCh38]
Chr17:48653687 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2819C>T (p.Ala940Val) single nucleotide variant not provided [RCV000996580] Chr17:50592001 [GRCh38]
Chr17:48669362 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3246G>A (p.Glu1082=) single nucleotide variant not provided [RCV000996581] Chr17:50596911 [GRCh38]
Chr17:48674272 [GRCh37]
Chr17:17q21.33		 conflicting interpretations of pathogenicity|uncertain significance
NM_018896.5(CACNA1G):c.3569G>C (p.Arg1190Pro) single nucleotide variant Inborn genetic diseases [RCV002550696]|not provided [RCV000996582] Chr17:50599738 [GRCh38]
Chr17:48677099 [GRCh37]
Chr17:17q21.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_018896.5(CACNA1G):c.3024C>T (p.Pro1008=) single nucleotide variant not provided [RCV000899892] Chr17:50596606 [GRCh38]
Chr17:48673967 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.2040C>T (p.Leu680=) single nucleotide variant not provided [RCV000920714] Chr17:50578303 [GRCh38]
Chr17:48655664 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.746+7G>T single nucleotide variant not provided [RCV000926699] Chr17:50572044 [GRCh38]
Chr17:48649405 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.1677C>T (p.Ala559=) single nucleotide variant not provided [RCV000939937] Chr17:50576079 [GRCh38]
Chr17:48653440 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.5982G>A (p.Pro1994=) single nucleotide variant not provided [RCV000915638] Chr17:50621716 [GRCh38]
Chr17:48699077 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.2739C>T (p.Ile913=) single nucleotide variant not provided [RCV000931008] Chr17:50591838 [GRCh38]
Chr17:48669199 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.4872C>T (p.Asn1624=) single nucleotide variant not provided [RCV000922975] Chr17:50615473 [GRCh38]
Chr17:48692834 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.2361C>T (p.Ala787=) single nucleotide variant not provided [RCV000923193] Chr17:50590530 [GRCh38]
Chr17:48667891 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.2144G>T (p.Ser715Ile) single nucleotide variant CACNA1G-related condition [RCV003895576]|not provided [RCV000917571] Chr17:50578407 [GRCh38]
Chr17:48655768 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.2004C>T (p.Pro668=) single nucleotide variant not provided [RCV000902340] Chr17:50578267 [GRCh38]
Chr17:48655628 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.2132G>A (p.Arg711Gln) single nucleotide variant Inborn genetic diseases [RCV002537559]|not provided [RCV000902454] Chr17:50578395 [GRCh38]
Chr17:48655756 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_018896.5(CACNA1G):c.1140+8A>G single nucleotide variant CACNA1G-related condition [RCV003958155]|not provided [RCV000901916] Chr17:50573121 [GRCh38]
Chr17:48650482 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.6579G>A (p.Pro2193=) single nucleotide variant not provided [RCV000901917] Chr17:50626196 [GRCh38]
Chr17:48703557 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_018896.5(CACNA1G):c.2024C>A (p.Ala675Glu) single nucleotide variant not provided [RCV000906185] Chr17:50578287 [GRCh38]
Chr17:48655648 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.3084C>T (p.His1028=) single nucleotide variant CACNA1G-related condition [RCV003943222]|not provided [RCV000972920] Chr17:50596749 [GRCh38]
Chr17:48674110 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_018896.5(CACNA1G):c.5073G>A (p.Thr1691=) single nucleotide variant not provided [RCV000981168] Chr17:50617489 [GRCh38]
Chr17:48694850 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.3616G>A (p.Gly1206Arg) single nucleotide variant not provided [RCV003314867] Chr17:50599785 [GRCh38]
Chr17:48677146 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.895G>A (p.Gly299Ser) single nucleotide variant CACNA1G-related condition [RCV003930851]|not provided [RCV000893716] Chr17:50572702 [GRCh38]
Chr17:48650063 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_018896.5(CACNA1G):c.4151G>A (p.Arg1384Gln) single nucleotide variant Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits [RCV000791181] Chr17:50603181 [GRCh38]
Chr17:48680542 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2223C>T (p.Asp741=) single nucleotide variant not provided [RCV000915614] Chr17:50578486 [GRCh38]
Chr17:48655847 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.3278C>T (p.Pro1093Leu) single nucleotide variant Inborn genetic diseases [RCV002535836]|Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits [RCV000791195]|Spinocerebellar ataxia type 42 [RCV000791196]|not provided [RCV003768481] Chr17:50599447 [GRCh38]
Chr17:48676808 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6995G>A (p.Arg2332Gln) single nucleotide variant not provided [RCV000820969] Chr17:50626612 [GRCh38]
Chr17:48703973 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3167C>T (p.Thr1056Met) single nucleotide variant Spinocerebellar ataxia type 42 [RCV000784999] Chr17:50596832 [GRCh38]
Chr17:48674193 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.1931G>A (p.Cys644Tyr) single nucleotide variant Inborn genetic diseases [RCV002535722]|Spinocerebellar ataxia type 42 [RCV000785149]|not provided [RCV000898963] Chr17:50578194 [GRCh38]
Chr17:48655555 [GRCh37]
Chr17:17q21.33		 benign|likely benign|uncertain significance
NM_018896.5(CACNA1G):c.684C>T (p.Val228=) single nucleotide variant not provided [RCV001091448] Chr17:50571975 [GRCh38]
Chr17:48649336 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.2979+9G>A single nucleotide variant not provided [RCV000941038] Chr17:50595070 [GRCh38]
Chr17:48672431 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.4251C>A (p.Val1417=) single nucleotide variant not provided [RCV000917492] Chr17:50604236 [GRCh38]
Chr17:48681597 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.4309A>T (p.Lys1437Ter) single nucleotide variant not provided [RCV003238949] Chr17:50605910 [GRCh38]
Chr17:48683271 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3285C>T (p.Ser1095=) single nucleotide variant not provided [RCV000915615] Chr17:50599454 [GRCh38]
Chr17:48676815 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.576C>T (p.Asn192=) single nucleotide variant not provided [RCV000895675] Chr17:50569793 [GRCh38]
Chr17:48647154 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.3512C>T (p.Ser1171Phe) single nucleotide variant not provided [RCV001091450] Chr17:50599681 [GRCh38]
Chr17:48677042 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.5695GACAGCCCC[1] (p.1899DSP[1]) microsatellite Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits [RCV001262319]|not provided [RCV001091451] Chr17:50618917..50618925 [GRCh38]
Chr17:48696278..48696286 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_018896.5(CACNA1G):c.5226+7G>A single nucleotide variant CACNA1G-related condition [RCV003910625]|not provided [RCV000892739] Chr17:50617936 [GRCh38]
Chr17:48695297 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_018896.5(CACNA1G):c.4675C>T (p.Arg1559Cys) single nucleotide variant Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits [RCV001196804] Chr17:50607989 [GRCh38]
Chr17:48685350 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.9GGA[2] (p.Glu5del) microsatellite not provided [RCV003318272] Chr17:50561466..50561468 [GRCh38]
Chr17:48638827..48638829 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6386C>A (p.Pro2129Gln) single nucleotide variant not provided [RCV003239219]|not specified [RCV003479508] Chr17:50624516 [GRCh38]
Chr17:48701877 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1835C>A (p.Ala612Asp) single nucleotide variant Inborn genetic diseases [RCV003291911] Chr17:50576237 [GRCh38]
Chr17:48653598 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6184G>A (p.Gly2062Arg) single nucleotide variant not provided [RCV003318199] Chr17:50624030 [GRCh38]
Chr17:48701391 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3063C>T (p.Ala1021=) single nucleotide variant not provided [RCV003313547] Chr17:50596645 [GRCh38]
Chr17:48674006 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.4601G>A (p.Gly1534Asp) single nucleotide variant not provided [RCV000996583] Chr17:50607915 [GRCh38]
Chr17:48685276 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_018896.5(CACNA1G):c.5313C>T (p.Asp1771=) single nucleotide variant not provided [RCV000996584] Chr17:50618229 [GRCh38]
Chr17:48695590 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.5615A>G (p.Glu1872Gly) single nucleotide variant not provided [RCV000996585] Chr17:50618842 [GRCh38]
Chr17:48696203 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6915dup (p.Leu2306fs) duplication not provided [RCV000996586] Chr17:50626526..50626527 [GRCh38]
Chr17:48703887..48703888 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2185T>C (p.Trp729Arg) single nucleotide variant Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits [RCV001198528] Chr17:50578448 [GRCh38]
Chr17:48655809 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1471G>T (p.Val491Phe) single nucleotide variant Spinocerebellar ataxia type 42 [RCV001249245] Chr17:50575873 [GRCh38]
Chr17:48653234 [GRCh37]
Chr17:17q21.33		 not provided
NM_018896.5(CACNA1G):c.1103C>T (p.Ser368Phe) single nucleotide variant not provided [RCV001091449] Chr17:50573076 [GRCh38]
Chr17:48650437 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_018896.5(CACNA1G):c.3679G>A (p.Glu1227Lys) single nucleotide variant not provided [RCV003231674] Chr17:50599848 [GRCh38]
Chr17:48677209 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.754A>G (p.Ser252Gly) single nucleotide variant not provided [RCV003231828] Chr17:50572561 [GRCh38]
Chr17:48649922 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.4606G>A (p.Val1536Met) single nucleotide variant not provided [RCV003235844] Chr17:50607920 [GRCh38]
Chr17:48685281 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.7007C>T (p.Pro2336Leu) single nucleotide variant Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits [RCV003120365]|not provided [RCV003143589] Chr17:50626624 [GRCh38]
Chr17:48703985 [GRCh37]
Chr17:17q21.33		 benign|uncertain significance
NM_018896.5(CACNA1G):c.1786A>G (p.Ser596Gly) single nucleotide variant not provided [RCV003127167] Chr17:50576188 [GRCh38]
Chr17:48653549 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.5705A>C (p.Asp1902Ala) single nucleotide variant Spinocerebellar ataxia type 42 [RCV003127221] Chr17:50618932 [GRCh38]
Chr17:48696293 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.484G>A (p.Ala162Thr) single nucleotide variant not provided [RCV001575378] Chr17:50569294 [GRCh38]
Chr17:48646655 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6198C>G (p.His2066Gln) single nucleotide variant Inborn genetic diseases [RCV003292928] Chr17:50624044 [GRCh38]
Chr17:48701405 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.4169+213T>G single nucleotide variant not provided [RCV001673773] Chr17:50603412 [GRCh38]
Chr17:48680773 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.4169+97T>C single nucleotide variant not provided [RCV001716900] Chr17:50603296 [GRCh38]
Chr17:48680657 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.2453+39del deletion not provided [RCV001617842] Chr17:50590661 [GRCh38]
Chr17:48668022 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.1721G>C (p.Arg574Thr) single nucleotide variant not provided [RCV001555637] Chr17:50576123 [GRCh38]
Chr17:48653484 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6230-24T>C single nucleotide variant not provided [RCV001598462] Chr17:50624336 [GRCh38]
Chr17:48701697 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.4297-336T>C single nucleotide variant not provided [RCV001608445] Chr17:50605562 [GRCh38]
Chr17:48682923 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.7008G>A (p.Pro2336=) single nucleotide variant not provided [RCV001640883] Chr17:50626625 [GRCh38]
Chr17:48703986 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.6376G>T (p.Ala2126Ser) single nucleotide variant not provided [RCV002284641] Chr17:50624506 [GRCh38]
Chr17:48701867 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.824G>A (p.Arg275His) single nucleotide variant not provided [RCV002284748] Chr17:50572631 [GRCh38]
Chr17:48649992 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.747-157C>T single nucleotide variant not provided [RCV001641618] Chr17:50572397 [GRCh38]
Chr17:48649758 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.4297-75G>A single nucleotide variant not provided [RCV001685566] Chr17:50605823 [GRCh38]
Chr17:48683184 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.419G>A (p.Gly140Asp) single nucleotide variant not provided [RCV001594339] Chr17:50569229 [GRCh38]
Chr17:48646590 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.286G>A (p.Val96Met) single nucleotide variant CACNA1G-related condition [RCV003948646]|not provided [RCV001620510] Chr17:50568913 [GRCh38]
Chr17:48646274 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_018896.5(CACNA1G):c.489-56T>G single nucleotide variant Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits [RCV001554545]|Spinocerebellar ataxia type 42 [RCV001554544]|not provided [RCV001615323] Chr17:50569650 [GRCh38]
Chr17:48647011 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.1479C>T (p.His493=) single nucleotide variant CACNA1G-related condition [RCV003931275]|Spinocerebellar ataxia type 42 [RCV002502022]|not provided [RCV001694455] Chr17:50575881 [GRCh38]
Chr17:48653242 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_018896.5(CACNA1G):c.4759+134C>T single nucleotide variant not provided [RCV001618888] Chr17:50610069 [GRCh38]
Chr17:48687430 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.242+134dup duplication not provided [RCV001710944] Chr17:50561825..50561826 [GRCh38]
Chr17:48639186..48639187 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.242+305C>A single nucleotide variant not provided [RCV001715471] Chr17:50562006 [GRCh38]
Chr17:48639367 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.2001C>T (p.Cys667=) single nucleotide variant not provided [RCV000885846] Chr17:50578264 [GRCh38]
Chr17:48655625 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_018896.5(CACNA1G):c.3993A>C (p.Ala1331=) single nucleotide variant CACNA1G-related condition [RCV003903279]|not provided [RCV000955525] Chr17:50603023 [GRCh38]
Chr17:48680384 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_018896.5(CACNA1G):c.2453+10C>T single nucleotide variant CACNA1G-related condition [RCV003940628]|not provided [RCV000889144] Chr17:50590632 [GRCh38]
Chr17:48667993 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.1925-10C>T single nucleotide variant not provided [RCV000963369] Chr17:50578178 [GRCh38]
Chr17:48655539 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.831C>T (p.Asn277=) single nucleotide variant not provided [RCV000919082] Chr17:50572638 [GRCh38]
Chr17:48649999 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.675C>T (p.Phe225=) single nucleotide variant not provided [RCV000918664] Chr17:50571966 [GRCh38]
Chr17:48649327 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.2043C>T (p.Ala681=) single nucleotide variant not provided [RCV000918665] Chr17:50578306 [GRCh38]
Chr17:48655667 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_018896.5(CACNA1G):c.2907G>A (p.Ala969=) single nucleotide variant not provided [RCV000907866]|not specified [RCV001729743] Chr17:50592089 [GRCh38]
Chr17:48669450 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.975G>A (p.Ala325=) single nucleotide variant not provided [RCV000972330] Chr17:50572782 [GRCh38]
Chr17:48650143 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_018896.5(CACNA1G):c.6189C>T (p.Pro2063=) single nucleotide variant not provided [RCV000925747] Chr17:50624035 [GRCh38]
Chr17:48701396 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.330C>T (p.Asp110=) single nucleotide variant not provided [RCV000977809] Chr17:50568957 [GRCh38]
Chr17:48646318 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.1899C>T (p.His633=) single nucleotide variant not provided [RCV000892709] Chr17:50576301 [GRCh38]
Chr17:48653662 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.2069G>A (p.Ser690Asn) single nucleotide variant not provided [RCV000892710] Chr17:50578332 [GRCh38]
Chr17:48655693 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_018896.5(CACNA1G):c.5709C>T (p.Ser1903=) single nucleotide variant not provided [RCV000931982] Chr17:50618936 [GRCh38]
Chr17:48696297 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.1362C>T (p.Val454=) single nucleotide variant not provided [RCV000968356] Chr17:50575764 [GRCh38]
Chr17:48653125 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_018896.5(CACNA1G):c.5853C>T (p.Asp1951=) single nucleotide variant CACNA1G-related condition [RCV003895456]|not provided [RCV000892740] Chr17:50619754 [GRCh38]
Chr17:48697115 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_018896.5(CACNA1G):c.1646G>C (p.Gly549Ala) single nucleotide variant CACNA1G-related condition [RCV003958281]|Inborn genetic diseases [RCV002540782]|not provided [RCV000908809] Chr17:50576048 [GRCh38]
Chr17:48653409 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_018896.5(CACNA1G):c.4801C>T (p.Arg1601Trp) single nucleotide variant not provided [RCV001760556] Chr17:50615402 [GRCh38]
Chr17:48692763 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1818A>G (p.Ala606=) single nucleotide variant not provided [RCV000918271] Chr17:50576220 [GRCh38]
Chr17:48653581 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_018896.5(CACNA1G):c.894C>T (p.Cys298=) single nucleotide variant not provided [RCV000908833] Chr17:50572701 [GRCh38]
Chr17:48650062 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.354+5GT[13] microsatellite Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits [RCV001262320]|not provided [RCV000955462]|not specified [RCV002249586] Chr17:50568986..50568989 [GRCh38]
Chr17:48646347..48646350 [GRCh37]
Chr17:17q21.33		 benign|uncertain significance
NM_018896.5(CACNA1G):c.3295G>A (p.Ala1099Thr) single nucleotide variant not provided [RCV000882903] Chr17:50599464 [GRCh38]
Chr17:48676825 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_018896.5(CACNA1G):c.1367G>A (p.Arg456Gln) single nucleotide variant CACNA1G-related condition [RCV003895759]|not provided [RCV000951335] Chr17:50575769 [GRCh38]
Chr17:48653130 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.5601A>G (p.Leu1867=) single nucleotide variant not provided [RCV000965391] Chr17:50618828 [GRCh38]
Chr17:48696189 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_018896.5(CACNA1G):c.876G>A (p.Gly292=) single nucleotide variant not provided [RCV000913106] Chr17:50572683 [GRCh38]
Chr17:48650044 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.1699C>T (p.Arg567Cys) single nucleotide variant not provided [RCV000957636] Chr17:50576101 [GRCh38]
Chr17:48653462 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_018896.5(CACNA1G):c.3711C>T (p.Arg1237=) single nucleotide variant not provided [RCV000890318] Chr17:50600746 [GRCh38]
Chr17:48678107 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.3111G>A (p.Pro1037=) single nucleotide variant not provided [RCV000890372] Chr17:50596776 [GRCh38]
Chr17:48674137 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.5523G>T (p.Val1841=) single nucleotide variant CACNA1G-related condition [RCV003950737]|not provided [RCV000911327] Chr17:50618750 [GRCh38]
Chr17:48696111 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.1056G>A (p.Thr352=) single nucleotide variant not provided [RCV000911456] Chr17:50573029 [GRCh38]
Chr17:48650390 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.6180C>T (p.Ala2060=) single nucleotide variant not provided [RCV000912842] Chr17:50624026 [GRCh38]
Chr17:48701387 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.2592C>T (p.Asn864=) single nucleotide variant not provided [RCV000891415] Chr17:50591573 [GRCh38]
Chr17:48668934 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.860C>T (p.Thr287Met) single nucleotide variant not provided [RCV001541304] Chr17:50572667 [GRCh38]
Chr17:48650028 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_018896.5(CACNA1G):c.3020C>T (p.Ser1007Leu) single nucleotide variant not provided [RCV001732318] Chr17:50596602 [GRCh38]
Chr17:48673963 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.5782-158_5782-157insTTGTGTGTGTGT microsatellite not provided [RCV001732387] Chr17:50619518..50619519 [GRCh38]
Chr17:48696879..48696880 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.1141-8C>A single nucleotide variant not provided [RCV003231905] Chr17:50575535 [GRCh38]
Chr17:48652896 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1141-71C>T single nucleotide variant Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits [RCV001554547]|Spinocerebellar ataxia type 42 [RCV001554546]|not provided [RCV001658290] Chr17:50575472 [GRCh38]
Chr17:48652833 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.1925-56A>G single nucleotide variant Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits [RCV001554553]|Spinocerebellar ataxia type 42 [RCV001554552]|not provided [RCV001638170] Chr17:50578132 [GRCh38]
Chr17:48655493 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.3792-87A>T single nucleotide variant Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits [RCV001554555]|Spinocerebellar ataxia type 42 [RCV001554554]|not provided [RCV001720318] Chr17:50600964 [GRCh38]
Chr17:48678325 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.6109C>T (p.Arg2037Trp) single nucleotide variant Inborn genetic diseases [RCV002571497]|Spinocerebellar ataxia type 42 [RCV002470605] Chr17:50623955 [GRCh38]
Chr17:48701316 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1459C>A (p.Arg487Ser) single nucleotide variant not provided [RCV001549371] Chr17:50575861 [GRCh38]
Chr17:48653222 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2018C>A (p.Ala673Asp) single nucleotide variant not provided [RCV002464736] Chr17:50578281 [GRCh38]
Chr17:48655642 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6400-206A>C single nucleotide variant not provided [RCV001719355] Chr17:50625811 [GRCh38]
Chr17:48703172 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.4296+217C>A single nucleotide variant not provided [RCV001719380] Chr17:50604498 [GRCh38]
Chr17:48681859 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.5021+14G>A single nucleotide variant not provided [RCV001669420] Chr17:50616398 [GRCh38]
Chr17:48693759 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.5925+294A>G single nucleotide variant not provided [RCV001656356] Chr17:50620120 [GRCh38]
Chr17:48697481 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.6284T>C (p.Leu2095Pro) single nucleotide variant not provided [RCV003235885] Chr17:50624414 [GRCh38]
Chr17:48701775 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2454-143A>G single nucleotide variant not provided [RCV001659295] Chr17:50591292 [GRCh38]
Chr17:48668653 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.884G>A (p.Gly295Asp) single nucleotide variant not provided [RCV002467109] Chr17:50572691 [GRCh38]
Chr17:48650052 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1924+3G>A single nucleotide variant not provided [RCV002467112] Chr17:50576329 [GRCh38]
Chr17:48653690 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6399+204G>T single nucleotide variant not provided [RCV001720472] Chr17:50624733 [GRCh38]
Chr17:48702094 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.5782-156_5782-155insGTTTGTGTGTGTGTGT microsatellite not provided [RCV001695887] Chr17:50619518..50619519 [GRCh38]
Chr17:48696879..48696880 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.1924+137A>G single nucleotide variant not provided [RCV001621687] Chr17:50576463 [GRCh38]
Chr17:48653824 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.1141-98G>A single nucleotide variant not provided [RCV001716903] Chr17:50575445 [GRCh38]
Chr17:48652806 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.3258+261G>A single nucleotide variant not provided [RCV001655171] Chr17:50597184 [GRCh38]
Chr17:48674545 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.6813C>T (p.Ala2271=) single nucleotide variant not provided [RCV001714021] Chr17:50626430 [GRCh38]
Chr17:48703791 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.747-138C>G single nucleotide variant not provided [RCV001656172] Chr17:50572416 [GRCh38]
Chr17:48649777 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.1925-219C>T single nucleotide variant not provided [RCV001658765] Chr17:50577969 [GRCh38]
Chr17:48655330 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.242+134del deletion not provided [RCV001673737] Chr17:50561826 [GRCh38]
Chr17:48639187 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.4297-59G>C single nucleotide variant not provided [RCV001686770] Chr17:50605839 [GRCh38]
Chr17:48683200 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.6322G>T (p.Ala2108Ser) single nucleotide variant CACNA1G-related condition [RCV003921272]|not provided [RCV001621175] Chr17:50624452 [GRCh38]
Chr17:48701813 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.2302-276C>G single nucleotide variant not provided [RCV001678515] Chr17:50590195 [GRCh38]
Chr17:48667556 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.3601G>A (p.Gly1201Ser) single nucleotide variant Cerebellar ataxia [RCV001002791] Chr17:50599770 [GRCh38]
Chr17:48677131 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.4911+249T>C single nucleotide variant not provided [RCV001682143] Chr17:50615761 [GRCh38]
Chr17:48693122 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.2301+163G>A single nucleotide variant not provided [RCV001650355] Chr17:50578727 [GRCh38]
Chr17:48656088 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.6769C>T (p.Arg2257Trp) single nucleotide variant Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits [RCV001591727]|not provided [RCV002508319] Chr17:50626386 [GRCh38]
Chr17:48703747 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.4169+220T>A single nucleotide variant not provided [RCV001643810] Chr17:50603419 [GRCh38]
Chr17:48680780 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.481A>T (p.Ile161Phe) single nucleotide variant Spinocerebellar ataxia type 42 [RCV001647192] Chr17:50569291 [GRCh38]
Chr17:48646652 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_018896.5(CACNA1G):c.3835G>A (p.Asp1279Asn) single nucleotide variant Spinocerebellar ataxia type 42 [RCV001647194] Chr17:50601094 [GRCh38]
Chr17:48678455 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_018896.5(CACNA1G):c.2639+45T>C single nucleotide variant not provided [RCV001646012] Chr17:50591665 [GRCh38]
Chr17:48669026 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.354+5GT[16] microsatellite not provided [RCV001572861] Chr17:50568985..50568986 [GRCh38]
Chr17:48646346..48646347 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_018896.5(CACNA1G):c.2454-76C>A single nucleotide variant not provided [RCV001670713] Chr17:50591359 [GRCh38]
Chr17:48668720 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.6074C>A (p.Pro2025His) single nucleotide variant not provided [RCV001531433] Chr17:50623920 [GRCh38]
Chr17:48701281 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6060+309G>A single nucleotide variant not provided [RCV001690834] Chr17:50622103 [GRCh38]
Chr17:48699464 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.1288G>A (p.Gly430Ser) single nucleotide variant Cerebellar ataxia [RCV001002785] Chr17:50575690 [GRCh38]
Chr17:48653051 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1998C>A (p.Ser666Arg) single nucleotide variant Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits [RCV001196243] Chr17:50578261 [GRCh38]
Chr17:48655622 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3200G>A (p.Arg1067His) single nucleotide variant not provided [RCV003769831]|not specified [RCV001170030] Chr17:50596865 [GRCh38]
Chr17:48674226 [GRCh37]
Chr17:17q21.33		 benign|uncertain significance
NM_018896.5(CACNA1G):c.6485C>A (p.Pro2162His) single nucleotide variant Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits [RCV001196244] Chr17:50626102 [GRCh38]
Chr17:48703463 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1888A>T (p.Ser630Cys) single nucleotide variant Spinocerebellar ataxia type 42 [RCV001254615]|not provided [RCV003718389] Chr17:50576290 [GRCh38]
Chr17:48653651 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.632T>C (p.Leu211Pro) single nucleotide variant Spinocerebellar ataxia type 42 [RCV001251141] Chr17:50571923 [GRCh38]
Chr17:48649284 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_018896.5(CACNA1G):c.5161A>T (p.Lys1721Ter) single nucleotide variant Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits [RCV001262321] Chr17:50617864 [GRCh38]
Chr17:48695225 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3065-5T>A single nucleotide variant Seizure [RCV001256114]|not provided [RCV003558768] Chr17:50596725 [GRCh38]
Chr17:48674086 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_018896.5(CACNA1G):c.5536G>A (p.Val1846Met) single nucleotide variant not provided [RCV002284861] Chr17:50618763 [GRCh38]
Chr17:48696124 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.5998C>G (p.Leu2000Val) single nucleotide variant not provided [RCV002280503] Chr17:50621732 [GRCh38]
Chr17:48699093 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2810C>T (p.Ser937Leu) single nucleotide variant Spinocerebellar ataxia type 42 [RCV001614476] Chr17:50591992 [GRCh38]
Chr17:48669353 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_018896.5(CACNA1G):c.6872G>A (p.Gly2291Glu) single nucleotide variant not provided [RCV002284706] Chr17:50626489 [GRCh38]
Chr17:48703850 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.4028G>A (p.Arg1343Gln) single nucleotide variant Spinocerebellar ataxia type 42 [RCV001332288] Chr17:50603058 [GRCh38]
Chr17:48680419 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.4593G>A (p.Met1531Ile) single nucleotide variant Spinocerebellar ataxia type 42 [RCV003320010] Chr17:50607907 [GRCh38]
Chr17:48685268 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_018896.5(CACNA1G):c.4325A>G (p.Gln1442Arg) single nucleotide variant Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits [RCV001332289] Chr17:50605926 [GRCh38]
Chr17:48683287 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6944C>T (p.Pro2315Leu) single nucleotide variant Spinocerebellar ataxia type 42 [RCV001332291] Chr17:50626561 [GRCh38]
Chr17:48703922 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6086C>T (p.Pro2029Leu) single nucleotide variant Neurodevelopmental abnormality [RCV001264627] Chr17:50623932 [GRCh38]
Chr17:48701293 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.3197C>T (p.Ser1066Leu) single nucleotide variant Intellectual disability [RCV001263270]|not provided [RCV003718392] Chr17:50596862 [GRCh38]
Chr17:48674223 [GRCh37]
Chr17:17q21.33		 benign|uncertain significance
NM_018896.5(CACNA1G):c.7088T>C (p.Leu2363Pro) single nucleotide variant Spinocerebellar ataxia type 42 [RCV001336459] Chr17:50626705 [GRCh38]
Chr17:48704066 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2240G>A (p.Arg747Gln) single nucleotide variant not provided [RCV001310371] Chr17:50578503 [GRCh38]
Chr17:48655864 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2910+234T>G single nucleotide variant not provided [RCV001539026] Chr17:50592326 [GRCh38]
Chr17:48669687 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.1126A>G (p.Ile376Val) single nucleotide variant Intellectual disability [RCV001281514] Chr17:50573099 [GRCh38]
Chr17:48650460 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2407A>C (p.Ile803Leu) single nucleotide variant Inborn genetic diseases [RCV002546779]|Spinocerebellar ataxia type 42 [RCV001336457]|not provided [RCV003120564] Chr17:50590576 [GRCh38]
Chr17:48667937 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_018896.5(CACNA1G):c.4534T>C (p.Trp1512Arg) single nucleotide variant not provided [RCV001787516] Chr17:50607848 [GRCh38]
Chr17:48685209 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6445C>T (p.Arg2149Trp) single nucleotide variant Inborn genetic diseases [RCV003264099]|not provided [RCV001787530] Chr17:50626062 [GRCh38]
Chr17:48703423 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_018896.5(CACNA1G):c.4513-104C>T single nucleotide variant not provided [RCV001765971] Chr17:50607723 [GRCh38]
Chr17:48685084 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.1328T>C (p.Ile443Thr) single nucleotide variant not provided [RCV001364029] Chr17:50575730 [GRCh38]
Chr17:48653091 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.5230G>A (p.Gly1744Arg) single nucleotide variant Spinocerebellar ataxia type 42 [RCV001332290] Chr17:50618051 [GRCh38]
Chr17:48695412 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2979+1G>T single nucleotide variant Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits [RCV001374620]|not provided [RCV001570703] Chr17:50595062 [GRCh38]
Chr17:48672423 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2911G>T (p.Glu971Ter) single nucleotide variant Spinocerebellar ataxia type 42 [RCV001336458] Chr17:50594993 [GRCh38]
Chr17:48672354 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2709del (p.Lys904fs) deletion not provided [RCV001337750] Chr17:50591807 [GRCh38]
Chr17:48669168 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3010G>A (p.Asp1004Asn) single nucleotide variant Inborn genetic diseases [RCV003166775]|not provided [RCV001310372] Chr17:50596592 [GRCh38]
Chr17:48673953 [GRCh37]
Chr17:17q21.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_018896.5(CACNA1G):c.3441A>C (p.Glu1147Asp) single nucleotide variant Inborn genetic diseases [RCV002562696]|not provided [RCV001484708] Chr17:50599610 [GRCh38]
Chr17:48676971 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.3697G>C (p.Gly1233Arg) single nucleotide variant not provided [RCV001427824] Chr17:50600732 [GRCh38]
Chr17:48678093 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.2319C>T (p.Asn773=) single nucleotide variant not provided [RCV001531432] Chr17:50590488 [GRCh38]
Chr17:48667849 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.3223G>A (p.Ala1075Thr) single nucleotide variant not provided [RCV001540779] Chr17:50596888 [GRCh38]
Chr17:48674249 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.4423-225C>T single nucleotide variant not provided [RCV001540899] Chr17:50606675 [GRCh38]
Chr17:48684036 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.532G>A (p.Ala178Thr) single nucleotide variant Spinocerebellar ataxia type 42 [RCV001543133] Chr17:50569749 [GRCh38]
Chr17:48647110 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3000A>C (p.Glu1000Asp) single nucleotide variant Inborn genetic diseases [RCV002552706]|not provided [RCV001398414] Chr17:50596582 [GRCh38]
Chr17:48673943 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.4911+282G>A single nucleotide variant not provided [RCV001671001] Chr17:50615794 [GRCh38]
Chr17:48693155 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.4513-169C>A single nucleotide variant not provided [RCV001538250] Chr17:50607658 [GRCh38]
Chr17:48685019 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.2302-98A>G single nucleotide variant not provided [RCV001691328] Chr17:50590373 [GRCh38]
Chr17:48667734 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.2740G>A (p.Val914Ile) single nucleotide variant Spastic ataxia [RCV001647151] Chr17:50591839 [GRCh38]
Chr17:48669200 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_018896.5(CACNA1G):c.242+125_242+126insAGG insertion not provided [RCV001669921] Chr17:50561825..50561826 [GRCh38]
Chr17:48639186..48639187 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.3915+236T>C single nucleotide variant not provided [RCV001673698] Chr17:50601410 [GRCh38]
Chr17:48678771 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.-606G>A single nucleotide variant not provided [RCV001680545] Chr17:50560854 [GRCh38]
Chr17:48638215 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.6061-302A>G single nucleotide variant not provided [RCV001652205] Chr17:50623605 [GRCh38]
Chr17:48700966 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.2453+30G>C single nucleotide variant not provided [RCV001672236] Chr17:50590652 [GRCh38]
Chr17:48668013 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.2135G>A (p.Arg712Gln) single nucleotide variant CACNA1G-related condition [RCV003908777]|Inborn genetic diseases [RCV002563310]|not provided [RCV001497282] Chr17:50578398 [GRCh38]
Chr17:48655759 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.2301+199T>C single nucleotide variant not provided [RCV001708275] Chr17:50578763 [GRCh38]
Chr17:48656124 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.5926-115C>A single nucleotide variant not provided [RCV001647894] Chr17:50621545 [GRCh38]
Chr17:48698906 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.6309C>T (p.Leu2103=) single nucleotide variant CACNA1G-related condition [RCV003973263]|Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits [RCV001420696]|not provided [RCV001647285] Chr17:50624439 [GRCh38]
Chr17:48701800 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.5155+92C>T single nucleotide variant not provided [RCV001732751] Chr17:50617663 [GRCh38]
Chr17:48695024 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.2453+312G>A single nucleotide variant not provided [RCV001732757] Chr17:50590934 [GRCh38]
Chr17:48668295 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.5021+112G>T single nucleotide variant not provided [RCV001732772] Chr17:50616496 [GRCh38]
Chr17:48693857 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.2301+207G>T single nucleotide variant not provided [RCV001732764] Chr17:50578771 [GRCh38]
Chr17:48656132 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.3683G>A (p.Gly1228Asp) single nucleotide variant not provided [RCV003108679] Chr17:50599852 [GRCh38]
Chr17:48677213 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.2454C>T (p.Ser818=) single nucleotide variant CACNA1G-related condition [RCV003963801]|Inborn genetic diseases [RCV003269533]|not provided [RCV003108713] Chr17:50591435 [GRCh38]
Chr17:48668796 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_018896.5(CACNA1G):c.4513-26C>T single nucleotide variant not provided [RCV001732417] Chr17:50607801 [GRCh38]
Chr17:48685162 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.4169+84C>T single nucleotide variant not provided [RCV001732681] Chr17:50603283 [GRCh38]
Chr17:48680644 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.5742C>A (p.His1914Gln) single nucleotide variant not specified [RCV002247900] Chr17:50618969 [GRCh38]
Chr17:48696330 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.6068C>A (p.Pro2023His) single nucleotide variant not provided [RCV001727042] Chr17:50623914 [GRCh38]
Chr17:48701275 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3259-43G>T single nucleotide variant not provided [RCV001732756] Chr17:50599385 [GRCh38]
Chr17:48676746 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.2301+116C>T single nucleotide variant not provided [RCV001732656] Chr17:50578680 [GRCh38]
Chr17:48656041 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.5925+103A>G single nucleotide variant not provided [RCV001732758] Chr17:50619929 [GRCh38]
Chr17:48697290 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.1925-94C>T single nucleotide variant not provided [RCV001732362] Chr17:50578094 [GRCh38]
Chr17:48655455 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.2301+229T>C single nucleotide variant not provided [RCV001732690] Chr17:50578793 [GRCh38]
Chr17:48656154 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.4169+238C>T single nucleotide variant not provided [RCV001732741] Chr17:50603437 [GRCh38]
Chr17:48680798 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.*157T>C single nucleotide variant not provided [RCV001732771] Chr17:50626908 [GRCh38]
Chr17:48704269 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.3398C>T (p.Ser1133Leu) single nucleotide variant not provided [RCV001727041] Chr17:50599567 [GRCh38]
Chr17:48676928 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.858C>A (p.Pro286=) single nucleotide variant not provided [RCV001756382] Chr17:50572665 [GRCh38]
Chr17:48650026 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_018896.5(CACNA1G):c.3259-107C>T single nucleotide variant not provided [RCV001732293] Chr17:50599321 [GRCh38]
Chr17:48676682 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.4169+31C>T single nucleotide variant not provided [RCV001732566] Chr17:50603230 [GRCh38]
Chr17:48680591 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.6972G>T (p.Pro2324=) single nucleotide variant not provided [RCV001779920] Chr17:50626589 [GRCh38]
Chr17:48703950 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.932C>T (p.Thr311Ile) single nucleotide variant not provided [RCV001761221] Chr17:50572739 [GRCh38]
Chr17:48650100 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3721C>T (p.Arg1241Ter) single nucleotide variant not provided [RCV002245114]|not specified [RCV003403744] Chr17:50600756 [GRCh38]
Chr17:48678117 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1346G>A (p.Arg449His) single nucleotide variant not provided [RCV001763249] Chr17:50575748 [GRCh38]
Chr17:48653109 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.5694C>T (p.Pro1898=) single nucleotide variant not provided [RCV001733201] Chr17:50618921 [GRCh38]
Chr17:48696282 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.5575A>G (p.Lys1859Glu) single nucleotide variant not provided [RCV001764076] Chr17:50618802 [GRCh38]
Chr17:48696163 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3581C>T (p.Ser1194Phe) single nucleotide variant not provided [RCV001762982] Chr17:50599750 [GRCh38]
Chr17:48677111 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1048-5C>G single nucleotide variant not provided [RCV001772975] Chr17:50573016 [GRCh38]
Chr17:48650377 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1673A>G (p.His558Arg) single nucleotide variant not provided [RCV002280504] Chr17:50576075 [GRCh38]
Chr17:48653436 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2885T>C (p.Ile962Thr) single nucleotide variant Spinocerebellar ataxia type 42 [RCV001799577] Chr17:50592067 [GRCh38]
Chr17:48669428 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3199C>T (p.Arg1067Cys) single nucleotide variant not provided [RCV001752093] Chr17:50596864 [GRCh38]
Chr17:48674225 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2194A>G (p.Ile732Val) single nucleotide variant not provided [RCV001752155] Chr17:50578457 [GRCh38]
Chr17:48655818 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.4155C>G (p.Thr1385=) single nucleotide variant not provided [RCV001762892] Chr17:50603185 [GRCh38]
Chr17:48680546 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_018896.5(CACNA1G):c.6077C>T (p.Thr2026Met) single nucleotide variant CACNA1G-related condition [RCV003913361]|not provided [RCV001754499] Chr17:50623923 [GRCh38]
Chr17:48701284 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_018896.5(CACNA1G):c.2212A>G (p.Lys738Glu) single nucleotide variant not provided [RCV001773086] Chr17:50578475 [GRCh38]
Chr17:48655836 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2884A>G (p.Ile962Val) single nucleotide variant not provided [RCV001776366] Chr17:50592066 [GRCh38]
Chr17:48669427 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1085T>G (p.Phe362Cys) single nucleotide variant not provided [RCV001754706] Chr17:50573058 [GRCh38]
Chr17:48650419 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.5204C>T (p.Thr1735Met) single nucleotide variant not provided [RCV001773235] Chr17:50617907 [GRCh38]
Chr17:48695268 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3999C>T (p.Gly1333=) single nucleotide variant not provided [RCV001773251] Chr17:50603029 [GRCh38]
Chr17:48680390 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.4967T>C (p.Leu1656Ser) single nucleotide variant not provided [RCV001752524] Chr17:50616330 [GRCh38]
Chr17:48693691 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.5866C>A (p.Pro1956Thr) single nucleotide variant not provided [RCV001771478] Chr17:50619767 [GRCh38]
Chr17:48697128 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6347A>C (p.Lys2116Thr) single nucleotide variant not provided [RCV001771597] Chr17:50624477 [GRCh38]
Chr17:48701838 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1996A>T (p.Ser666Cys) single nucleotide variant not provided [RCV001754326] Chr17:50578259 [GRCh38]
Chr17:48655620 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2116C>T (p.Arg706Trp) single nucleotide variant not provided [RCV001764088] Chr17:50578379 [GRCh38]
Chr17:48655740 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2937T>C (p.Ser979=) single nucleotide variant not provided [RCV001768307] Chr17:50595019 [GRCh38]
Chr17:48672380 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.688G>A (p.Val230Ile) single nucleotide variant not provided [RCV001765930] Chr17:50571979 [GRCh38]
Chr17:48649340 [GRCh37]
Chr17:17q21.33		 likely benign|conflicting interpretations of pathogenicity
NM_018896.5(CACNA1G):c.1588C>T (p.Arg530Cys) single nucleotide variant not provided [RCV001800085] Chr17:50575990 [GRCh38]
Chr17:48653351 [GRCh37]
Chr17:17q21.33		 conflicting interpretations of pathogenicity|uncertain significance
NM_018896.5(CACNA1G):c.338G>A (p.Arg113His) single nucleotide variant not provided [RCV001764771] Chr17:50568965 [GRCh38]
Chr17:48646326 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.5350A>G (p.Thr1784Ala) single nucleotide variant not provided [RCV001752102] Chr17:50618266 [GRCh38]
Chr17:48695627 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.4802G>A (p.Arg1601Gln) single nucleotide variant not provided [RCV001786126] Chr17:50615403 [GRCh38]
Chr17:48692764 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.78G>A (p.Ser26=) single nucleotide variant not provided [RCV001754187] Chr17:50561537 [GRCh38]
Chr17:48638898 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_018896.5(CACNA1G):c.1955G>A (p.Ser652Asn) single nucleotide variant not provided [RCV001773106] Chr17:50578218 [GRCh38]
Chr17:48655579 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.5316G>C (p.Glu1772Asp) single nucleotide variant not provided [RCV001773178] Chr17:50618232 [GRCh38]
Chr17:48695593 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.304C>T (p.Arg102Trp) single nucleotide variant not provided [RCV001773254] Chr17:50568931 [GRCh38]
Chr17:48646292 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6943C>G (p.Pro2315Ala) single nucleotide variant not provided [RCV001768929] Chr17:50626560 [GRCh38]
Chr17:48703921 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6398A>C (p.Gln2133Pro) single nucleotide variant not provided [RCV001768987] Chr17:50624528 [GRCh38]
Chr17:48701889 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3121A>G (p.Ile1041Val) single nucleotide variant not provided [RCV001769027] Chr17:50596786 [GRCh38]
Chr17:48674147 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3814A>C (p.Ile1272Leu) single nucleotide variant not provided [RCV001767868] Chr17:50601073 [GRCh38]
Chr17:48678434 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.4018G>C (p.Ala1340Pro) single nucleotide variant not provided [RCV001774013] Chr17:50603048 [GRCh38]
Chr17:48680409 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.5781+276G>A single nucleotide variant not provided [RCV001794640] Chr17:50619284 [GRCh38]
Chr17:48696645 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.3844G>A (p.Val1282Ile) single nucleotide variant not provided [RCV001764937] Chr17:50601103 [GRCh38]
Chr17:48678464 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2686G>C (p.Asp896His) single nucleotide variant not provided [RCV001769228] Chr17:50591785 [GRCh38]
Chr17:48669146 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3916-110G>A single nucleotide variant not provided [RCV001762756] Chr17:50602710 [GRCh38]
Chr17:48680071 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.1345C>T (p.Arg449Cys) single nucleotide variant not provided [RCV001752555] Chr17:50575747 [GRCh38]
Chr17:48653108 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6887G>A (p.Gly2296Glu) single nucleotide variant not provided [RCV001752643] Chr17:50626504 [GRCh38]
Chr17:48703865 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3791+73T>G single nucleotide variant not provided [RCV001733216] Chr17:50600899 [GRCh38]
Chr17:48678260 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.551T>G (p.Val184Gly) single nucleotide variant not provided [RCV001765540] Chr17:50569768 [GRCh38]
Chr17:48647129 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3200G>C (p.Arg1067Pro) single nucleotide variant not provided [RCV001765620] Chr17:50596865 [GRCh38]
Chr17:48674226 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2479G>C (p.Gly827Arg) single nucleotide variant not provided [RCV001794687] Chr17:50591460 [GRCh38]
Chr17:48668821 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2478G>T (p.Gln826His) single nucleotide variant not provided [RCV001768975] Chr17:50591459 [GRCh38]
Chr17:48668820 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.5518T>C (p.Phe1840Leu) single nucleotide variant not provided [RCV001771081] Chr17:50618745 [GRCh38]
Chr17:48696106 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.4422+43G>A single nucleotide variant not provided [RCV001732857] Chr17:50606066 [GRCh38]
Chr17:48683427 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.2906C>A (p.Ala969Glu) single nucleotide variant not provided [RCV001754129] Chr17:50592088 [GRCh38]
Chr17:48669449 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3915+202A>G single nucleotide variant not provided [RCV001732884] Chr17:50601376 [GRCh38]
Chr17:48678737 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.6244G>A (p.Val2082Ile) single nucleotide variant not provided [RCV001816208] Chr17:50624374 [GRCh38]
Chr17:48701735 [GRCh37]
Chr17:17q21.33		 conflicting interpretations of pathogenicity|uncertain significance
NM_018896.5(CACNA1G):c.1324T>C (p.Tyr442His) single nucleotide variant not provided [RCV001763154] Chr17:50575726 [GRCh38]
Chr17:48653087 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.868G>A (p.Gly290Arg) single nucleotide variant not provided [RCV001786647] Chr17:50572675 [GRCh38]
Chr17:48650036 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.4705+103G>A single nucleotide variant not provided [RCV001733009] Chr17:50608122 [GRCh38]
Chr17:48685483 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.5021+138T>C single nucleotide variant not provided [RCV001733146] Chr17:50616522 [GRCh38]
Chr17:48693883 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.2454-120C>T single nucleotide variant not provided [RCV001733215] Chr17:50591315 [GRCh38]
Chr17:48668676 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.2210_2211delinsAT (p.Arg737His) indel not provided [RCV001799912] Chr17:50578473..50578474 [GRCh38]
Chr17:48655834..48655835 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3182C>G (p.Ala1061Gly) single nucleotide variant Spinocerebellar ataxia type 42 [RCV001799563] Chr17:50596847 [GRCh38]
Chr17:48674208 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3064+22C>A single nucleotide variant not provided [RCV001733214] Chr17:50596668 [GRCh38]
Chr17:48674029 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.4512+181A>T single nucleotide variant not provided [RCV001733221] Chr17:50607170 [GRCh38]
Chr17:48684531 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.4711A>G (p.Met1571Val) single nucleotide variant not provided [RCV001758666] Chr17:50609887 [GRCh38]
Chr17:48687248 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.802C>T (p.Pro268Ser) single nucleotide variant not provided [RCV001758655] Chr17:50572609 [GRCh38]
Chr17:48649970 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6913A>C (p.Lys2305Gln) single nucleotide variant not provided [RCV001760924] Chr17:50626530 [GRCh38]
Chr17:48703891 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1780C>T (p.His594Tyr) single nucleotide variant not provided [RCV001756772] Chr17:50576182 [GRCh38]
Chr17:48653543 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3668A>G (p.Asp1223Gly) single nucleotide variant not provided [RCV001757008] Chr17:50599837 [GRCh38]
Chr17:48677198 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6061-112G>A single nucleotide variant not provided [RCV001733311] Chr17:50623795 [GRCh38]
Chr17:48701156 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.2911-294A>G single nucleotide variant not provided [RCV001733499] Chr17:50594699 [GRCh38]
Chr17:48672060 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.4759+252G>A single nucleotide variant not provided [RCV001733200] Chr17:50610187 [GRCh38]
Chr17:48687548 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.747-257T>C single nucleotide variant not provided [RCV001733213] Chr17:50572297 [GRCh38]
Chr17:48649658 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.1141-159G>A single nucleotide variant not provided [RCV001733024] Chr17:50575384 [GRCh38]
Chr17:48652745 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.2980-140C>T single nucleotide variant not provided [RCV001779633] Chr17:50596422 [GRCh38]
Chr17:48673783 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.5756C>T (p.Ser1919Phe) single nucleotide variant Inborn genetic diseases [RCV002544095]|not provided [RCV001758784] Chr17:50618983 [GRCh38]
Chr17:48696344 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2850C>G (p.Phe950Leu) single nucleotide variant Spinocerebellar ataxia type 42 [RCV001809227] Chr17:50592032 [GRCh38]
Chr17:48669393 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3834C>T (p.Phe1278=) single nucleotide variant not provided [RCV001816207] Chr17:50601093 [GRCh38]
Chr17:48678454 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.4594T>C (p.Phe1532Leu) single nucleotide variant Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits [RCV001806451] Chr17:50607908 [GRCh38]
Chr17:48685269 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_018896.5(CACNA1G):c.1569C>A (p.Asp523Glu) single nucleotide variant Inborn genetic diseases [RCV003348644]|not provided [RCV001950047] Chr17:50575971 [GRCh38]
Chr17:48653332 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6656C>T (p.Thr2219Met) single nucleotide variant Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits [RCV001837423] Chr17:50626273 [GRCh38]
Chr17:48703634 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2230T>C (p.Tyr744His) single nucleotide variant not provided [RCV001837106] Chr17:50578493 [GRCh38]
Chr17:48655854 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1501_1512del (p.His501_His504del) deletion Developmental disorder [RCV001843822] Chr17:50575894..50575905 [GRCh38]
Chr17:48653255..48653266 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.6958G>T (p.Gly2320Cys) single nucleotide variant Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits [RCV001839083]|not provided [RCV003546731] Chr17:50626575 [GRCh38]
Chr17:48703936 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3792G>T (p.Arg1264Ser) single nucleotide variant Spinocerebellar ataxia type 42 [RCV001849223]|not provided [RCV002538675] Chr17:50601051 [GRCh38]
Chr17:48678412 [GRCh37]
Chr17:17q21.33		 likely pathogenic|uncertain significance
NM_018896.5(CACNA1G):c.5906T>C (p.Leu1969Pro) single nucleotide variant Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits [RCV001839145] Chr17:50619807 [GRCh38]
Chr17:48697168 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2412G>T (p.Lys804Asn) single nucleotide variant not provided [RCV001899194] Chr17:50590581 [GRCh38]
Chr17:48667942 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3382C>T (p.Arg1128Trp) single nucleotide variant Inborn genetic diseases [RCV002569324]|not provided [RCV001975767] Chr17:50599551 [GRCh38]
Chr17:48676912 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_018896.5(CACNA1G):c.6368C>A (p.Ser2123Tyr) single nucleotide variant Spinocerebellar ataxia type 42 [RCV002225210] Chr17:50624498 [GRCh38]
Chr17:48701859 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.5626A>G (p.Lys1876Glu) single nucleotide variant not provided [RCV002211409] Chr17:50618853 [GRCh38]
Chr17:48696214 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.3134C>G (p.Ala1045Gly) single nucleotide variant not provided [RCV002211407] Chr17:50596799 [GRCh38]
Chr17:48674160 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.4422+31G>C single nucleotide variant not provided [RCV002211408] Chr17:50606054 [GRCh38]
Chr17:48683415 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_018896.5(CACNA1G):c.5605G>A (p.Ala1869Thr) single nucleotide variant not specified [RCV002247047] Chr17:50618832 [GRCh38]
Chr17:48696193 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.215G>A (p.Ser72Asn) single nucleotide variant not provided [RCV003109866] Chr17:50561674 [GRCh38]
Chr17:48639035 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.4038G>A (p.Trp1346Ter) single nucleotide variant not provided [RCV003109899] Chr17:50603068 [GRCh38]
Chr17:48680429 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6401C>T (p.Ala2134Val) single nucleotide variant not provided [RCV003110070] Chr17:50626018 [GRCh38]
Chr17:48703379 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3822C>T (p.Thr1274=) single nucleotide variant not provided [RCV003116813] Chr17:50601081 [GRCh38]
Chr17:48678442 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.4107C>T (p.Ser1369=) single nucleotide variant not provided [RCV003113097] Chr17:50603137 [GRCh38]
Chr17:48680498 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.3155A>G (p.Lys1052Arg) single nucleotide variant not provided [RCV003112512] Chr17:50596820 [GRCh38]
Chr17:48674181 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.6181G>A (p.Glu2061Lys) single nucleotide variant not provided [RCV003112993] Chr17:50624027 [GRCh38]
Chr17:48701388 [GRCh37]
Chr17:17q21.33		 benign|conflicting interpretations of pathogenicity
NM_018896.5(CACNA1G):c.865C>T (p.Arg289Cys) single nucleotide variant not provided [RCV003121290] Chr17:50572672 [GRCh38]
Chr17:48650033 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.5086G>A (p.Glu1696Lys) single nucleotide variant not provided [RCV003121910] Chr17:50617502 [GRCh38]
Chr17:48694863 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.5406C>T (p.Asp1802=) single nucleotide variant not provided [RCV003121335] Chr17:50618322 [GRCh38]
Chr17:48695683 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.5692C>T (p.Pro1898Ser) single nucleotide variant not provided [RCV003121336] Chr17:50618919 [GRCh38]
Chr17:48696280 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.746+7_746+8delinsTT indel not provided [RCV003118740] Chr17:50572044..50572045 [GRCh38]
Chr17:48649405..48649406 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.5351C>A (p.Thr1784Asn) single nucleotide variant not provided [RCV003120475] Chr17:50618267 [GRCh38]
Chr17:48695628 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2898C>T (p.Gly966=) single nucleotide variant not provided [RCV003121112] Chr17:50592080 [GRCh38]
Chr17:48669441 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.2508C>G (p.Phe836Leu) single nucleotide variant not provided [RCV003154100] Chr17:50591489 [GRCh38]
Chr17:48668850 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1576G>A (p.Ala526Thr) single nucleotide variant not provided [RCV003128984] Chr17:50575978 [GRCh38]
Chr17:48653339 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2979+15A>G single nucleotide variant not specified [RCV002247895] Chr17:50595076 [GRCh38]
Chr17:48672437 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.4616A>G (p.Asn1539Ser) single nucleotide variant not provided [RCV003152235] Chr17:50607930 [GRCh38]
Chr17:48685291 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1641del (p.Gly548fs) deletion not provided [RCV003152277] Chr17:50576043 [GRCh38]
Chr17:48653404 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.4919A>G (p.Asp1640Gly) single nucleotide variant See cases [RCV002252951] Chr17:50616282 [GRCh38]
Chr17:48693643 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3229C>A (p.Pro1077Thr) single nucleotide variant not provided [RCV003149471] Chr17:50596894 [GRCh38]
Chr17:48674255 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.5125C>T (p.Arg1709Cys) single nucleotide variant Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits [RCV002244222] Chr17:50617541 [GRCh38]
Chr17:48694902 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.4727T>C (p.Ile1576Thr) single nucleotide variant not provided [RCV003234342] Chr17:50609903 [GRCh38]
Chr17:48687264 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2977G>A (p.Gly993Arg) single nucleotide variant not provided [RCV003232982] Chr17:50595059 [GRCh38]
Chr17:48672420 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1855C>T (p.Leu619Phe) single nucleotide variant not provided [RCV002288070] Chr17:50576257 [GRCh38]
Chr17:48653618 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.560C>T (p.Pro187Leu) single nucleotide variant not provided [RCV002286989] Chr17:50569777 [GRCh38]
Chr17:48647138 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3568C>T (p.Arg1190Ter) single nucleotide variant not provided [RCV002290918] Chr17:50599737 [GRCh38]
Chr17:48677098 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2020G>T (p.Gly674Trp) single nucleotide variant not provided [RCV002274509] Chr17:50578283 [GRCh38]
Chr17:48655644 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.5185A>C (p.Met1729Leu) single nucleotide variant not provided [RCV002274636] Chr17:50617888 [GRCh38]
Chr17:48695249 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.5176_5187del (p.Ala1726_Met1729del) deletion not provided [RCV002269638] Chr17:50617876..50617887 [GRCh38]
Chr17:48695237..48695248 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.4802G>T (p.Arg1601Leu) single nucleotide variant not provided [RCV002269668] Chr17:50615403 [GRCh38]
Chr17:48692764 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3311C>A (p.Thr1104Asn) single nucleotide variant not provided [RCV002273644] Chr17:50599480 [GRCh38]
Chr17:48676841 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1634C>A (p.Ala545Asp) single nucleotide variant not provided [RCV002276316] Chr17:50576036 [GRCh38]
Chr17:48653397 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6634A>G (p.Arg2212Gly) single nucleotide variant not provided [RCV002291991] Chr17:50626251 [GRCh38]
Chr17:48703612 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6714dup (p.Ser2239fs) duplication not provided [RCV002292171] Chr17:50626330..50626331 [GRCh38]
Chr17:48703691..48703692 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.5960C>A (p.Thr1987Lys) single nucleotide variant not provided [RCV002263102] Chr17:50621694 [GRCh38]
Chr17:48699055 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_018896.5(CACNA1G):c.2320G>A (p.Ala774Thr) single nucleotide variant Spinocerebellar ataxia type 42 [RCV003458243]|not provided [RCV002283260] Chr17:50590489 [GRCh38]
Chr17:48667850 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1468T>G (p.Ser490Ala) single nucleotide variant Spinocerebellar ataxia type 42 [RCV002273169] Chr17:50575870 [GRCh38]
Chr17:48653231 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.4163C>T (p.Pro1388Leu) single nucleotide variant not provided [RCV002269644] Chr17:50603193 [GRCh38]
Chr17:48680554 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.866G>A (p.Arg289His) single nucleotide variant Spinocerebellar ataxia type 42 [RCV002287862] Chr17:50572673 [GRCh38]
Chr17:48650034 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1724C>G (p.Ser575Cys) single nucleotide variant not provided [RCV002281452] Chr17:50576126 [GRCh38]
Chr17:48653487 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1533G>A (p.Thr511=) single nucleotide variant not provided [RCV002263101] Chr17:50575935 [GRCh38]
Chr17:48653296 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.1334G>A (p.Arg445His) single nucleotide variant not provided [RCV002288176] Chr17:50575736 [GRCh38]
Chr17:48653097 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6494G>A (p.Arg2165Gln) single nucleotide variant not provided [RCV002269702] Chr17:50626111 [GRCh38]
Chr17:48703472 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2131C>T (p.Arg711Trp) single nucleotide variant Spinocerebellar ataxia type 42 [RCV002289442] Chr17:50578394 [GRCh38]
Chr17:48655755 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.5961G>C (p.Thr1987=) single nucleotide variant not provided [RCV002263103] Chr17:50621695 [GRCh38]
Chr17:48699056 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.6362G>C (p.Gly2121Ala) single nucleotide variant not provided [RCV002287097] Chr17:50624492 [GRCh38]
Chr17:48701853 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2454-19C>A single nucleotide variant not specified [RCV003236267] Chr17:50591416 [GRCh38]
Chr17:48668777 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.5152C>G (p.Arg1718Gly) single nucleotide variant Neurodevelopmental delay [RCV002274325] Chr17:50617568 [GRCh38]
Chr17:48694929 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_018896.5(CACNA1G):c.4421A>T (p.Gln1474Leu) single nucleotide variant not specified [RCV002281803] Chr17:50606022 [GRCh38]
Chr17:48683383 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2947A>C (p.Ser983Arg) single nucleotide variant CACNA1G-related condition [RCV003408209]|not provided [RCV002285732] Chr17:50595029 [GRCh38]
Chr17:48672390 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6230G>C (p.Gly2077Ala) single nucleotide variant not provided [RCV002285772] Chr17:50624360 [GRCh38]
Chr17:48701721 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.907G>A (p.Glu303Lys) single nucleotide variant Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits [RCV002283687] Chr17:50572714 [GRCh38]
Chr17:48650075 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.4592T>C (p.Met1531Thr) single nucleotide variant Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits [RCV002468816] Chr17:50607906 [GRCh38]
Chr17:48685267 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_018896.5(CACNA1G):c.6658G>A (p.Glu2220Lys) single nucleotide variant not provided [RCV002283284] Chr17:50626275 [GRCh38]
Chr17:48703636 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6400-12C>G single nucleotide variant not provided [RCV002286880] Chr17:50626005 [GRCh38]
Chr17:48703366 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.4141C>T (p.Arg1381Trp) single nucleotide variant not provided [RCV003154382] Chr17:50603171 [GRCh38]
Chr17:48680532 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1795C>G (p.Pro599Ala) single nucleotide variant not provided [RCV003152111] Chr17:50576197 [GRCh38]
Chr17:48653558 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3825C>A (p.His1275Gln) single nucleotide variant not provided [RCV003129559] Chr17:50601084 [GRCh38]
Chr17:48678445 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3442G>A (p.Glu1148Lys) single nucleotide variant not provided [RCV003129113] Chr17:50599611 [GRCh38]
Chr17:48676972 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3229C>T (p.Pro1077Ser) single nucleotide variant Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits [RCV002466874]|not provided [RCV003456531] Chr17:50596894 [GRCh38]
Chr17:48674255 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1243C>T (p.Arg415Trp) single nucleotide variant not provided [RCV002473987] Chr17:50575645 [GRCh38]
Chr17:48653006 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3379G>A (p.Glu1127Lys) single nucleotide variant not provided [RCV002464852] Chr17:50599548 [GRCh38]
Chr17:48676909 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2557C>T (p.Arg853Trp) single nucleotide variant not provided [RCV002464706] Chr17:50591538 [GRCh38]
Chr17:48668899 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3896A>G (p.Lys1299Arg) single nucleotide variant Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits [RCV002470272] Chr17:50601155 [GRCh38]
Chr17:48678516 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2144G>A (p.Ser715Asn) single nucleotide variant not provided [RCV002467053] Chr17:50578407 [GRCh38]
Chr17:48655768 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6713dup (p.Ser2239fs) duplication not provided [RCV003011905] Chr17:50626325..50626326 [GRCh38]
Chr17:48703686..48703687 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.4073T>C (p.Val1358Ala) single nucleotide variant not provided [RCV003154104] Chr17:50603103 [GRCh38]
Chr17:48680464 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.337C>A (p.Arg113Ser) single nucleotide variant not provided [RCV002301661] Chr17:50568964 [GRCh38]
Chr17:48646325 [GRCh37]
Chr17:17q21.33		 likely pathogenic|uncertain significance
NM_018896.5(CACNA1G):c.2015G>C (p.Arg672Pro) single nucleotide variant not provided [RCV003154517] Chr17:50578278 [GRCh38]
Chr17:48655639 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.590T>G (p.Met197Arg) single nucleotide variant not provided [RCV002306037] Chr17:50571881 [GRCh38]
Chr17:48649242 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_018896.5(CACNA1G):c.3274T>C (p.Ser1092Pro) single nucleotide variant not provided [RCV002308741] Chr17:50599443 [GRCh38]
Chr17:48676804 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3474T>G (p.His1158Gln) single nucleotide variant not provided [RCV002306374] Chr17:50599643 [GRCh38]
Chr17:48677004 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.5598G>C (p.Glu1866Asp) single nucleotide variant not provided [RCV002308783] Chr17:50618825 [GRCh38]
Chr17:48696186 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3065-8C>T single nucleotide variant not provided [RCV003775003]|not specified [RCV002302560] Chr17:50596722 [GRCh38]
Chr17:48674083 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_018896.5(CACNA1G):c.5437C>T (p.Arg1813Trp) single nucleotide variant not provided [RCV002300716] Chr17:50618664 [GRCh38]
Chr17:48696025 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.59T>C (p.Met20Thr) single nucleotide variant not provided [RCV002300792] Chr17:50561518 [GRCh38]
Chr17:48638879 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.5572A>C (p.Asn1858His) single nucleotide variant not provided [RCV002308890] Chr17:50618799 [GRCh38]
Chr17:48696160 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6680A>G (p.Asp2227Gly) single nucleotide variant not provided [RCV002301085] Chr17:50626297 [GRCh38]
Chr17:48703658 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.4706-10G>A single nucleotide variant not provided [RCV003095702] Chr17:50609872 [GRCh38]
Chr17:48687233 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.6925C>T (p.Pro2309Ser) single nucleotide variant not provided [RCV002511264] Chr17:50626542 [GRCh38]
Chr17:48703903 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.478G>A (p.Val160Ile) single nucleotide variant Inborn genetic diseases [RCV002749411]|not provided [RCV003730389] Chr17:50569288 [GRCh38]
Chr17:48646649 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_018896.5(CACNA1G):c.6535C>A (p.Gln2179Lys) single nucleotide variant Inborn genetic diseases [RCV002841198] Chr17:50626152 [GRCh38]
Chr17:48703513 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.4042G>A (p.Val1348Met) single nucleotide variant Inborn genetic diseases [RCV002753743]|not provided [RCV003159243] Chr17:50603072 [GRCh38]
Chr17:48680433 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3803T>G (p.Leu1268Arg) single nucleotide variant Inborn genetic diseases [RCV002752708] Chr17:50601062 [GRCh38]
Chr17:48678423 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.4027C>T (p.Arg1343Trp) single nucleotide variant not provided [RCV002726784] Chr17:50603057 [GRCh38]
Chr17:48680418 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1471G>A (p.Val491Ile) single nucleotide variant Inborn genetic diseases [RCV003092097]|not provided [RCV003099013] Chr17:50575873 [GRCh38]
Chr17:48653234 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_018896.5(CACNA1G):c.2395C>G (p.Pro799Ala) single nucleotide variant not provided [RCV002734798] Chr17:50590564 [GRCh38]
Chr17:48667925 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2019C>T (p.Ala673=) single nucleotide variant not provided [RCV003076147] Chr17:50578282 [GRCh38]
Chr17:48655643 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.6297A>G (p.Ala2099=) single nucleotide variant not provided [RCV002686143] Chr17:50624427 [GRCh38]
Chr17:48701788 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.3139C>A (p.Pro1047Thr) single nucleotide variant not provided [RCV002462666] Chr17:50596804 [GRCh38]
Chr17:48674165 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.7048G>A (p.Asp2350Asn) single nucleotide variant not provided [RCV002948026] Chr17:50626665 [GRCh38]
Chr17:48704026 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3640C>T (p.Pro1214Ser) single nucleotide variant not provided [RCV002618245] Chr17:50599809 [GRCh38]
Chr17:48677170 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.5251A>C (p.Met1751Leu) single nucleotide variant Inborn genetic diseases [RCV002687619] Chr17:50618072 [GRCh38]
Chr17:48695433 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1547G>A (p.Arg516Gln) single nucleotide variant Inborn genetic diseases [RCV002733841] Chr17:50575949 [GRCh38]
Chr17:48653310 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3205A>C (p.Thr1069Pro) single nucleotide variant Inborn genetic diseases [RCV002997240] Chr17:50596870 [GRCh38]
Chr17:48674231 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3132C>T (p.Ala1044=) single nucleotide variant not provided [RCV002776261] Chr17:50596797 [GRCh38]
Chr17:48674158 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.2018C>T (p.Ala673Val) single nucleotide variant not provided [RCV002461865] Chr17:50578281 [GRCh38]
Chr17:48655642 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.4330G>A (p.Glu1444Lys) single nucleotide variant not provided [RCV002750731] Chr17:50605931 [GRCh38]
Chr17:48683292 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.880G>A (p.Gly294Ser) single nucleotide variant not provided [RCV002776425] Chr17:50572687 [GRCh38]
Chr17:48650048 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.1633G>C (p.Ala545Pro) single nucleotide variant not provided [RCV003075145] Chr17:50576035 [GRCh38]
Chr17:48653396 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_018896.5(CACNA1G):c.3912C>T (p.Ser1304=) single nucleotide variant not provided [RCV003095481] Chr17:50601171 [GRCh38]
Chr17:48678532 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.889C>T (p.Pro297Ser) single nucleotide variant not provided [RCV002726230] Chr17:50572696 [GRCh38]
Chr17:48650057 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6230-18_6230-17del deletion not provided [RCV002686339] Chr17:50624341..50624342 [GRCh38]
Chr17:48701702..48701703 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.3691-19T>G single nucleotide variant not provided [RCV002771081] Chr17:50600707 [GRCh38]
Chr17:48678068 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.4759+16T>C single nucleotide variant not provided [RCV003011712] Chr17:50609951 [GRCh38]
Chr17:48687312 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.2924G>A (p.Arg975Gln) single nucleotide variant Inborn genetic diseases [RCV002749152] Chr17:50595006 [GRCh38]
Chr17:48672367 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.4863C>T (p.Ile1621=) single nucleotide variant not provided [RCV002994515] Chr17:50615464 [GRCh38]
Chr17:48692825 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.1795C>T (p.Pro599Ser) single nucleotide variant not provided [RCV002690183] Chr17:50576197 [GRCh38]
Chr17:48653558 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.4697A>G (p.Lys1566Arg) single nucleotide variant Inborn genetic diseases [RCV002879511] Chr17:50608011 [GRCh38]
Chr17:48685372 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2979+14C>T single nucleotide variant not provided [RCV002996958] Chr17:50595075 [GRCh38]
Chr17:48672436 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.2659T>C (p.Phe887Leu) single nucleotide variant not provided [RCV003152164] Chr17:50591758 [GRCh38]
Chr17:48669119 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3413A>G (p.Glu1138Gly) single nucleotide variant not provided [RCV003152250] Chr17:50599582 [GRCh38]
Chr17:48676943 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2466C>T (p.Ile822=) single nucleotide variant not provided [RCV003095592] Chr17:50591447 [GRCh38]
Chr17:48668808 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.4747A>T (p.Ser1583Cys) single nucleotide variant Inborn genetic diseases [RCV002728636] Chr17:50609923 [GRCh38]
Chr17:48687284 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3069G>C (p.Val1023=) single nucleotide variant not provided [RCV003033469] Chr17:50596734 [GRCh38]
Chr17:48674095 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.3984+1G>A single nucleotide variant not provided [RCV002461754] Chr17:50602889 [GRCh38]
Chr17:48680250 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6322G>A (p.Ala2108Thr) single nucleotide variant Inborn genetic diseases [RCV002734508] Chr17:50624452 [GRCh38]
Chr17:48701813 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.1408C>T (p.Pro470Ser) single nucleotide variant Inborn genetic diseases [RCV002728814] Chr17:50575810 [GRCh38]
Chr17:48653171 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2478G>C (p.Gln826His) single nucleotide variant Inborn genetic diseases [RCV002731757] Chr17:50591459 [GRCh38]
Chr17:48668820 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2990A>G (p.Asn997Ser) single nucleotide variant Inborn genetic diseases [RCV003087698]|not provided [RCV003076082] Chr17:50596572 [GRCh38]
Chr17:48673933 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.3448C>T (p.Arg1150Trp) single nucleotide variant Inborn genetic diseases [RCV002883036] Chr17:50599617 [GRCh38]
Chr17:48676978 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3696A>G (p.Lys1232=) single nucleotide variant not provided [RCV003034491] Chr17:50600731 [GRCh38]
Chr17:48678092 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.3340G>A (p.Gly1114Ser) single nucleotide variant not provided [RCV003151977] Chr17:50599509 [GRCh38]
Chr17:48676870 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.5704G>A (p.Asp1902Asn) single nucleotide variant not provided [RCV003076148] Chr17:50618931 [GRCh38]
Chr17:48696292 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.4422+25G>A single nucleotide variant Inborn genetic diseases [RCV002946915] Chr17:50606048 [GRCh38]
Chr17:48683409 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.1048-16C>T single nucleotide variant not provided [RCV002839303] Chr17:50573005 [GRCh38]
Chr17:48650366 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.6343_6344delinsAA (p.Pro2115Asn) indel Inborn genetic diseases [RCV002707882] Chr17:50624473..50624474 [GRCh38]
Chr17:48701834..48701835 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1001C>A (p.Ala334Asp) single nucleotide variant not provided [RCV002999803] Chr17:50572808 [GRCh38]
Chr17:48650169 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2755-5C>T single nucleotide variant CACNA1G-related condition [RCV003943435]|not provided [RCV002592721] Chr17:50591932 [GRCh38]
Chr17:48669293 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.2934G>A (p.Ala978=) single nucleotide variant not provided [RCV002867783] Chr17:50595016 [GRCh38]
Chr17:48672377 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.2384T>A (p.Leu795His) single nucleotide variant not provided [RCV003081560] Chr17:50590553 [GRCh38]
Chr17:48667914 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3476G>A (p.Arg1159His) single nucleotide variant Inborn genetic diseases [RCV002845882] Chr17:50599645 [GRCh38]
Chr17:48677006 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.489-20C>T single nucleotide variant not provided [RCV002690550] Chr17:50569686 [GRCh38]
Chr17:48647047 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.6078G>A (p.Thr2026=) single nucleotide variant not provided [RCV002800219] Chr17:50623924 [GRCh38]
Chr17:48701285 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.3637C>T (p.Arg1213Trp) single nucleotide variant not provided [RCV002571883] Chr17:50599806 [GRCh38]
Chr17:48677167 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.1546C>T (p.Arg516Trp) single nucleotide variant not provided [RCV002640179] Chr17:50575948 [GRCh38]
Chr17:48653309 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3655C>G (p.Leu1219Val) single nucleotide variant not provided [RCV003021750] Chr17:50599824 [GRCh38]
Chr17:48677185 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3010G>C (p.Asp1004His) single nucleotide variant Inborn genetic diseases [RCV002758019] Chr17:50596592 [GRCh38]
Chr17:48673953 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6724G>A (p.Asp2242Asn) single nucleotide variant not provided [RCV002760256] Chr17:50626341 [GRCh38]
Chr17:48703702 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3496C>T (p.Arg1166Trp) single nucleotide variant not provided [RCV002619927] Chr17:50599665 [GRCh38]
Chr17:48677026 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.839G>A (p.Arg280Gln) single nucleotide variant Inborn genetic diseases [RCV002738427] Chr17:50572646 [GRCh38]
Chr17:48650007 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1237C>T (p.Arg413Cys) single nucleotide variant not provided [RCV002621859] Chr17:50575639 [GRCh38]
Chr17:48653000 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2048G>A (p.Arg683His) single nucleotide variant Inborn genetic diseases [RCV002951810]|not provided [RCV003143556] Chr17:50578311 [GRCh38]
Chr17:48655672 [GRCh37]
Chr17:17q21.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_018896.5(CACNA1G):c.4759+4C>T single nucleotide variant not provided [RCV002658587] Chr17:50609939 [GRCh38]
Chr17:48687300 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1268T>C (p.Leu423Pro) single nucleotide variant Inborn genetic diseases [RCV002888238] Chr17:50575670 [GRCh38]
Chr17:48653031 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6200G>A (p.Arg2067Lys) single nucleotide variant not provided [RCV002913179] Chr17:50624046 [GRCh38]
Chr17:48701407 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6609C>A (p.Asn2203Lys) single nucleotide variant not provided [RCV002913180] Chr17:50626226 [GRCh38]
Chr17:48703587 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3203G>T (p.Arg1068Leu) single nucleotide variant not provided [RCV002509992] Chr17:50596868 [GRCh38]
Chr17:48674229 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3361C>T (p.Arg1121Trp) single nucleotide variant not specified [RCV002510320] Chr17:50599530 [GRCh38]
Chr17:48676891 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1845G>T (p.Gly615=) single nucleotide variant not provided [RCV002662617] Chr17:50576247 [GRCh38]
Chr17:48653608 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.4911+9G>A single nucleotide variant not provided [RCV002621861] Chr17:50615521 [GRCh38]
Chr17:48692882 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.746+16G>A single nucleotide variant not provided [RCV002760532] Chr17:50572053 [GRCh38]
Chr17:48649414 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.2453+17G>A single nucleotide variant not provided [RCV002569819] Chr17:50590639 [GRCh38]
Chr17:48668000 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.4368C>T (p.Ala1456=) single nucleotide variant not provided [RCV003080831] Chr17:50605969 [GRCh38]
Chr17:48683330 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.4998T>C (p.Gly1666=) single nucleotide variant not provided [RCV002949068] Chr17:50616361 [GRCh38]
Chr17:48693722 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.5776C>T (p.Pro1926Ser) single nucleotide variant not provided [RCV002909585] Chr17:50619003 [GRCh38]
Chr17:48696364 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.5735C>T (p.Ala1912Val) single nucleotide variant Inborn genetic diseases [RCV002692390] Chr17:50618962 [GRCh38]
Chr17:48696323 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.4225C>T (p.Leu1409=) single nucleotide variant not provided [RCV002570310] Chr17:50604210 [GRCh38]
Chr17:48681571 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.1722G>A (p.Arg574=) single nucleotide variant not provided [RCV002796494] Chr17:50576124 [GRCh38]
Chr17:48653485 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.2301+9G>A single nucleotide variant not provided [RCV003078841] Chr17:50578573 [GRCh38]
Chr17:48655934 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.1381C>T (p.Arg461Trp) single nucleotide variant not provided [RCV003002702] Chr17:50575783 [GRCh38]
Chr17:48653144 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.1777G>A (p.Val593Met) single nucleotide variant not provided [RCV002923188] Chr17:50576179 [GRCh38]
Chr17:48653540 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_018896.5(CACNA1G):c.7093C>G (p.Leu2365Val) single nucleotide variant Inborn genetic diseases [RCV002660562] Chr17:50626710 [GRCh38]
Chr17:48704071 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.4358C>T (p.Ser1453Leu) single nucleotide variant not provided [RCV002622255] Chr17:50605959 [GRCh38]
Chr17:48683320 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1257C>T (p.Asn419=) single nucleotide variant not provided [RCV002805775] Chr17:50575659 [GRCh38]
Chr17:48653020 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.5430C>T (p.Asp1810=) single nucleotide variant not provided [RCV002766674] Chr17:50618657 [GRCh38]
Chr17:48696018 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.6777G>T (p.Thr2259=) single nucleotide variant not provided [RCV002575748] Chr17:50626394 [GRCh38]
Chr17:48703755 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.242+19C>T single nucleotide variant not provided [RCV002627216] Chr17:50561720 [GRCh38]
Chr17:48639081 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.4482T>C (p.Asp1494=) single nucleotide variant not provided [RCV002745882] Chr17:50606959 [GRCh38]
Chr17:48684320 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.6237C>A (p.Val2079=) single nucleotide variant not provided [RCV002623682] Chr17:50624367 [GRCh38]
Chr17:48701728 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.1657G>A (p.Val553Met) single nucleotide variant not provided [RCV002626858] Chr17:50576059 [GRCh38]
Chr17:48653420 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.790G>A (p.Glu264Lys) single nucleotide variant not provided [RCV003043648] Chr17:50572597 [GRCh38]
Chr17:48649958 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.7075A>G (p.Lys2359Glu) single nucleotide variant Inborn genetic diseases [RCV002644467]|not provided [RCV002655055] Chr17:50626692 [GRCh38]
Chr17:48704053 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.5782-13_5782-12delinsTA indel not provided [RCV002666736] Chr17:50619670..50619671 [GRCh38]
Chr17:48697031..48697032 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1616C>G (p.Thr539Arg) single nucleotide variant Inborn genetic diseases [RCV002597095]|not provided [RCV002578630] Chr17:50576018 [GRCh38]
Chr17:48653379 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2316C>T (p.Thr772=) single nucleotide variant not provided [RCV002624381] Chr17:50590485 [GRCh38]
Chr17:48667846 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.6916C>T (p.Leu2306Phe) single nucleotide variant Inborn genetic diseases [RCV002787813] Chr17:50626533 [GRCh38]
Chr17:48703894 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3259-18T>C single nucleotide variant not provided [RCV002800662] Chr17:50599410 [GRCh38]
Chr17:48676771 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.648G>A (p.Leu216=) single nucleotide variant not provided [RCV002572779] Chr17:50571939 [GRCh38]
Chr17:48649300 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.1167G>A (p.Leu389=) single nucleotide variant not provided [RCV002663352] Chr17:50575569 [GRCh38]
Chr17:48652930 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.3035G>A (p.Gly1012Asp) single nucleotide variant not provided [RCV002890808] Chr17:50596617 [GRCh38]
Chr17:48673978 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.6170G>C (p.Gly2057Ala) single nucleotide variant Inborn genetic diseases [RCV002914662]|not provided [RCV002922955] Chr17:50624016 [GRCh38]
Chr17:48701377 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_018896.5(CACNA1G):c.5917G>A (p.Asp1973Asn) single nucleotide variant Inborn genetic diseases [RCV002697507] Chr17:50619818 [GRCh38]
Chr17:48697179 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.5731C>A (p.Pro1911Thr) single nucleotide variant Inborn genetic diseases [RCV002802383] Chr17:50618958 [GRCh38]
Chr17:48696319 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6094G>A (p.Asp2032Asn) single nucleotide variant Inborn genetic diseases [RCV002874165] Chr17:50623940 [GRCh38]
Chr17:48701301 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6824T>C (p.Leu2275Pro) single nucleotide variant Inborn genetic diseases [RCV002890541]|not provided [RCV002890542] Chr17:50626441 [GRCh38]
Chr17:48703802 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.3915+17G>A single nucleotide variant not provided [RCV002642695] Chr17:50601191 [GRCh38]
Chr17:48678552 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.2304C>T (p.Pro768=) single nucleotide variant not provided [RCV002575868] Chr17:50590473 [GRCh38]
Chr17:48667834 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.1803G>A (p.Thr601=) single nucleotide variant not provided [RCV002805657] Chr17:50576205 [GRCh38]
Chr17:48653566 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.5205G>A (p.Thr1735=) single nucleotide variant not provided [RCV003083493] Chr17:50617908 [GRCh38]
Chr17:48695269 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.6973C>A (p.Pro2325Thr) single nucleotide variant Inborn genetic diseases [RCV002853744] Chr17:50626590 [GRCh38]
Chr17:48703951 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1318C>G (p.Leu440Val) single nucleotide variant not provided [RCV002595267] Chr17:50575720 [GRCh38]
Chr17:48653081 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.6540C>G (p.His2180Gln) single nucleotide variant Inborn genetic diseases [RCV002874912] Chr17:50626157 [GRCh38]
Chr17:48703518 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.4911+8C>T single nucleotide variant not provided [RCV003039868] Chr17:50615520 [GRCh38]
Chr17:48692881 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.6923C>T (p.Pro2308Leu) single nucleotide variant not provided [RCV002508713] Chr17:50626540 [GRCh38]
Chr17:48703901 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.72C>G (p.Asp24Glu) single nucleotide variant not provided [RCV002594389] Chr17:50561531 [GRCh38]
Chr17:48638892 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.70G>A (p.Asp24Asn) single nucleotide variant not provided [RCV003005949] Chr17:50561529 [GRCh38]
Chr17:48638890 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6508T>A (p.Trp2170Arg) single nucleotide variant Juvenile myoclonic epilepsy [RCV002509009] Chr17:50626125 [GRCh38]
Chr17:48703486 [GRCh37]
Chr17:17q21.33		 not provided
NM_018896.5(CACNA1G):c.6697G>T (p.Gly2233Cys) single nucleotide variant not provided [RCV002667762] Chr17:50626314 [GRCh38]
Chr17:48703675 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3343C>T (p.Arg1115Cys) single nucleotide variant Inborn genetic diseases [RCV002986642] Chr17:50599512 [GRCh38]
Chr17:48676873 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2754+4C>T single nucleotide variant Inborn genetic diseases [RCV003082156]|not provided [RCV003088084] Chr17:50591857 [GRCh38]
Chr17:48669218 [GRCh37]
Chr17:17q21.33		 benign|likely benign|conflicting interpretations of pathogenicity
NM_018896.5(CACNA1G):c.3055T>C (p.Cys1019Arg) single nucleotide variant not provided [RCV002508577] Chr17:50596637 [GRCh38]
Chr17:48673998 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3043G>A (p.Asp1015Asn) single nucleotide variant not provided [RCV002642904] Chr17:50596625 [GRCh38]
Chr17:48673986 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.2310G>C (p.Glu770Asp) single nucleotide variant not provided [RCV003005813] Chr17:50590479 [GRCh38]
Chr17:48667840 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.4480G>A (p.Asp1494Asn) single nucleotide variant Inborn genetic diseases [RCV002804477] Chr17:50606957 [GRCh38]
Chr17:48684318 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3064+17G>C single nucleotide variant not provided [RCV002575559] Chr17:50596663 [GRCh38]
Chr17:48674024 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.3268C>T (p.Arg1090Cys) single nucleotide variant Inborn genetic diseases [RCV002802303] Chr17:50599437 [GRCh38]
Chr17:48676798 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6515A>T (p.Gln2172Leu) single nucleotide variant Inborn genetic diseases [RCV002891281] Chr17:50626132 [GRCh38]
Chr17:48703493 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1047+12T>C single nucleotide variant not provided [RCV002572468] Chr17:50572866 [GRCh38]
Chr17:48650227 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.2150G>T (p.Gly717Val) single nucleotide variant Inborn genetic diseases [RCV002874799] Chr17:50578413 [GRCh38]
Chr17:48655774 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6806_6807del (p.Ser2269fs) microsatellite CACNA1G-related condition [RCV003410016]|not provided [RCV002985721] Chr17:50626421..50626422 [GRCh38]
Chr17:48703782..48703783 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1564C>A (p.Gln522Lys) single nucleotide variant Inborn genetic diseases [RCV002891353] Chr17:50575966 [GRCh38]
Chr17:48653327 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.7128C>T (p.Asp2376=) single nucleotide variant not provided [RCV002593836] Chr17:50626745 [GRCh38]
Chr17:48704106 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.5745G>A (p.Ala1915=) single nucleotide variant not provided [RCV002642926] Chr17:50618972 [GRCh38]
Chr17:48696333 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.4987G>C (p.Val1663Leu) single nucleotide variant Inborn genetic diseases [RCV002930070] Chr17:50616350 [GRCh38]
Chr17:48693711 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3449G>A (p.Arg1150Gln) single nucleotide variant Inborn genetic diseases [RCV003092520]|not provided [RCV003081941] Chr17:50599618 [GRCh38]
Chr17:48676979 [GRCh37]
Chr17:17q21.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_018896.5(CACNA1G):c.350T>G (p.Leu117Arg) single nucleotide variant Inborn genetic diseases [RCV002719415] Chr17:50568977 [GRCh38]
Chr17:48646338 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.7014C>T (p.Ser2338=) single nucleotide variant not provided [RCV002582066] Chr17:50626631 [GRCh38]
Chr17:48703992 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.5284G>A (p.Val1762Met) single nucleotide variant Inborn genetic diseases [RCV002896743] Chr17:50618105 [GRCh38]
Chr17:48695466 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3747C>T (p.Leu1249=) single nucleotide variant not provided [RCV002967229] Chr17:50600782 [GRCh38]
Chr17:48678143 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.1561A>G (p.Ile521Val) single nucleotide variant Inborn genetic diseases [RCV002935236] Chr17:50575963 [GRCh38]
Chr17:48653324 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1044C>T (p.Phe348=) single nucleotide variant not provided [RCV002967228] Chr17:50572851 [GRCh38]
Chr17:48650212 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.5021+5C>A single nucleotide variant not provided [RCV002720622] Chr17:50616389 [GRCh38]
Chr17:48693750 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2014C>T (p.Arg672Trp) single nucleotide variant not provided [RCV002966425] Chr17:50578277 [GRCh38]
Chr17:48655638 [GRCh37]
Chr17:17q21.33		 likely benign|conflicting interpretations of pathogenicity
NM_018896.5(CACNA1G):c.4318G>C (p.Val1440Leu) single nucleotide variant Inborn genetic diseases [RCV002702971] Chr17:50605919 [GRCh38]
Chr17:48683280 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1758C>T (p.Ser586=) single nucleotide variant CACNA1G-related condition [RCV003963664]|not provided [RCV002582084] Chr17:50576160 [GRCh38]
Chr17:48653521 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_018896.5(CACNA1G):c.4691A>T (p.Glu1564Val) single nucleotide variant not provided [RCV003092159] Chr17:50608005 [GRCh38]
Chr17:48685366 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3678C>T (p.Asp1226=) single nucleotide variant not provided [RCV003087560] Chr17:50599847 [GRCh38]
Chr17:48677208 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.6004del (p.Asp2002fs) deletion not provided [RCV002963326] Chr17:50621737 [GRCh38]
Chr17:48699098 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.5925+1G>A single nucleotide variant not provided [RCV002966456] Chr17:50619827 [GRCh38]
Chr17:48697188 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.7082A>T (p.Asp2361Val) single nucleotide variant not provided [RCV002966857] Chr17:50626699 [GRCh38]
Chr17:48704060 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1128C>T (p.Ile376=) single nucleotide variant not provided [RCV002602085] Chr17:50573101 [GRCh38]
Chr17:48650462 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.2140C>T (p.Arg714Trp) single nucleotide variant not provided [RCV002651632] Chr17:50578403 [GRCh38]
Chr17:48655764 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.3690+10dup duplication not provided [RCV002581734] Chr17:50599865..50599866 [GRCh38]
Chr17:48677226..48677227 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.3027C>A (p.Ser1009Arg) single nucleotide variant Inborn genetic diseases [RCV002877763] Chr17:50596609 [GRCh38]
Chr17:48673970 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1450C>T (p.Arg484Cys) single nucleotide variant not provided [RCV003061277] Chr17:50575852 [GRCh38]
Chr17:48653213 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.1767G>A (p.Val589=) single nucleotide variant not provided [RCV003009387] Chr17:50576169 [GRCh38]
Chr17:48653530 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.586+9C>A single nucleotide variant not provided [RCV002577524] Chr17:50569812 [GRCh38]
Chr17:48647173 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.6639C>T (p.Ser2213=) single nucleotide variant not provided [RCV003063127] Chr17:50626256 [GRCh38]
Chr17:48703617 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.3849T>C (p.Leu1283=) single nucleotide variant not provided [RCV002577327] Chr17:50601108 [GRCh38]
Chr17:48678469 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.4108G>A (p.Gly1370Ser) single nucleotide variant Inborn genetic diseases [RCV002672369] Chr17:50603138 [GRCh38]
Chr17:48680499 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1224G>T (p.Leu408=) single nucleotide variant not provided [RCV002963370] Chr17:50575626 [GRCh38]
Chr17:48652987 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.867C>A (p.Arg289=) single nucleotide variant not provided [RCV002646725] Chr17:50572674 [GRCh38]
Chr17:48650035 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.6811G>A (p.Ala2271Thr) single nucleotide variant Inborn genetic diseases [RCV002702996] Chr17:50626428 [GRCh38]
Chr17:48703789 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.861G>A (p.Thr287=) single nucleotide variant not provided [RCV002628060] Chr17:50572668 [GRCh38]
Chr17:48650029 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.4785C>T (p.Ser1595=) single nucleotide variant CACNA1G-related condition [RCV003926746]|not provided [RCV002629248] Chr17:50615386 [GRCh38]
Chr17:48692747 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.4957A>G (p.Ile1653Val) single nucleotide variant Inborn genetic diseases [RCV002809902] Chr17:50616320 [GRCh38]
Chr17:48693681 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.5358G>A (p.Arg1786=) single nucleotide variant not provided [RCV002600328] Chr17:50618274 [GRCh38]
Chr17:48695635 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.3649C>G (p.Pro1217Ala) single nucleotide variant Inborn genetic diseases [RCV002579322]|not provided [RCV002579321] Chr17:50599818 [GRCh38]
Chr17:48677179 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.2640-5C>G single nucleotide variant not provided [RCV002833661] Chr17:50591734 [GRCh38]
Chr17:48669095 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.2453+16G>A single nucleotide variant not provided [RCV002630173] Chr17:50590638 [GRCh38]
Chr17:48667999 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.7098C>T (p.Ser2366=) single nucleotide variant not provided [RCV003060034] Chr17:50626715 [GRCh38]
Chr17:48704076 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_018896.5(CACNA1G):c.5306-16T>C single nucleotide variant not provided [RCV003045337] Chr17:50618206 [GRCh38]
Chr17:48695567 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.3792G>C (p.Arg1264Ser) single nucleotide variant Inborn genetic diseases [RCV002836457] Chr17:50601051 [GRCh38]
Chr17:48678412 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.126del (p.Ser43fs) deletion Inborn genetic diseases [RCV002717547] Chr17:50561585 [GRCh38]
Chr17:48638946 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6220G>C (p.Ala2074Pro) single nucleotide variant Inborn genetic diseases [RCV002718169]|not provided [RCV003420430] Chr17:50624066 [GRCh38]
Chr17:48701427 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.4556C>T (p.Ser1519Leu) single nucleotide variant not provided [RCV002811567] Chr17:50607870 [GRCh38]
Chr17:48685231 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.7065G>A (p.Ser2355=) single nucleotide variant not provided [RCV003090523] Chr17:50626682 [GRCh38]
Chr17:48704043 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.4512+11G>C single nucleotide variant not provided [RCV002597817] Chr17:50607000 [GRCh38]
Chr17:48684361 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.4297-19del deletion not provided [RCV002876861] Chr17:50605879 [GRCh38]
Chr17:48683240 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.6744C>T (p.Ser2248=) single nucleotide variant not provided [RCV002899906] Chr17:50626361 [GRCh38]
Chr17:48703722 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.4366G>A (p.Ala1456Thr) single nucleotide variant not provided [RCV002962146] Chr17:50605967 [GRCh38]
Chr17:48683328 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.1531A>G (p.Thr511Ala) single nucleotide variant not provided [RCV002646331] Chr17:50575933 [GRCh38]
Chr17:48653294 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2025A>G (p.Ala675=) single nucleotide variant not provided [RCV002630897] Chr17:50578288 [GRCh38]
Chr17:48655649 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.5307G>A (p.Glu1769=) single nucleotide variant not provided [RCV002988736] Chr17:50618223 [GRCh38]
Chr17:48695584 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.2117G>A (p.Arg706Gln) single nucleotide variant not provided [RCV002962250] Chr17:50578380 [GRCh38]
Chr17:48655741 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_018896.5(CACNA1G):c.6901C>T (p.Arg2301Trp) single nucleotide variant Inborn genetic diseases [RCV002770032]|not provided [RCV003778640] Chr17:50626518 [GRCh38]
Chr17:48703879 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_018896.5(CACNA1G):c.2755-4G>A single nucleotide variant not provided [RCV002961995] Chr17:50591933 [GRCh38]
Chr17:48669294 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.6164G>A (p.Arg2055Gln) single nucleotide variant Inborn genetic diseases [RCV002769342] Chr17:50624010 [GRCh38]
Chr17:48701371 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6767G>A (p.Arg2256His) single nucleotide variant not provided [RCV002632705] Chr17:50626384 [GRCh38]
Chr17:48703745 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.5925+16T>G single nucleotide variant not provided [RCV003048495] Chr17:50619842 [GRCh38]
Chr17:48697203 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.7108T>G (p.Ser2370Ala) single nucleotide variant not provided [RCV003044156] Chr17:50626725 [GRCh38]
Chr17:48704086 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.5589G>A (p.Glu1863=) single nucleotide variant not provided [RCV002630085] Chr17:50618816 [GRCh38]
Chr17:48696177 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.1048-8C>A single nucleotide variant CACNA1G-related condition [RCV003943571]|not provided [RCV002922289] Chr17:50573013 [GRCh38]
Chr17:48650374 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.1944C>T (p.Cys648=) single nucleotide variant not provided [RCV003066882] Chr17:50578207 [GRCh38]
Chr17:48655568 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.2318A>G (p.Asn773Ser) single nucleotide variant Inborn genetic diseases [RCV002725039]|not provided [RCV003778598] Chr17:50590487 [GRCh38]
Chr17:48667848 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3556A>G (p.Thr1186Ala) single nucleotide variant Inborn genetic diseases [RCV002722962] Chr17:50599725 [GRCh38]
Chr17:48677086 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.4755G>A (p.Ala1585=) single nucleotide variant not provided [RCV002603771] Chr17:50609931 [GRCh38]
Chr17:48687292 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.3385C>T (p.Arg1129Trp) single nucleotide variant not provided [RCV002582628] Chr17:50599554 [GRCh38]
Chr17:48676915 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.1592G>A (p.Arg531Gln) single nucleotide variant not provided [RCV003092723] Chr17:50575994 [GRCh38]
Chr17:48653355 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.5652G>A (p.Ser1884=) single nucleotide variant not provided [RCV002587496] Chr17:50618879 [GRCh38]
Chr17:48696240 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.6060+4C>G single nucleotide variant not provided [RCV002607347] Chr17:50621798 [GRCh38]
Chr17:48699159 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1616C>T (p.Thr539Met) single nucleotide variant not provided [RCV002610163] Chr17:50576018 [GRCh38]
Chr17:48653379 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.4513-7C>T single nucleotide variant not provided [RCV003092888] Chr17:50607820 [GRCh38]
Chr17:48685181 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.4329C>T (p.Gly1443=) single nucleotide variant not provided [RCV002584642] Chr17:50605930 [GRCh38]
Chr17:48683291 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.6722G>A (p.Arg2241Gln) single nucleotide variant not provided [RCV002603653] Chr17:50626339 [GRCh38]
Chr17:48703700 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.1367G>T (p.Arg456Leu) single nucleotide variant Spinocerebellar ataxia type 42 [RCV003388153]|not provided [RCV002585560] Chr17:50575769 [GRCh38]
Chr17:48653130 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_018896.5(CACNA1G):c.823C>T (p.Arg275Cys) single nucleotide variant not provided [RCV003092722] Chr17:50572630 [GRCh38]
Chr17:48649991 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.6649_6660del (p.Asp2218_Leu2221del) deletion not provided [RCV002603537] Chr17:50626263..50626274 [GRCh38]
Chr17:48703624..48703635 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.7050C>G (p.Asp2350Glu) single nucleotide variant Inborn genetic diseases [RCV002611624]|not provided [RCV002611623] Chr17:50626667 [GRCh38]
Chr17:48704028 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_018896.5(CACNA1G):c.1740C>T (p.Ser580=) single nucleotide variant not provided [RCV002588196] Chr17:50576142 [GRCh38]
Chr17:48653503 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.3543A>G (p.Pro1181=) single nucleotide variant not provided [RCV002612692] Chr17:50599712 [GRCh38]
Chr17:48677073 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.4023C>A (p.Tyr1341Ter) single nucleotide variant Neonatal encephalopathy [RCV003154298] Chr17:50603053 [GRCh38]
Chr17:48680414 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2754+2T>C single nucleotide variant not provided [RCV003154327] Chr17:50591855 [GRCh38]
Chr17:48669216 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2909A>C (p.Glu970Ala) single nucleotide variant not provided [RCV003219026] Chr17:50592091 [GRCh38]
Chr17:48669452 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1532C>T (p.Thr511Met) single nucleotide variant Inborn genetic diseases [RCV003185822] Chr17:50575934 [GRCh38]
Chr17:48653295 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3690+1G>A single nucleotide variant not provided [RCV003221638] Chr17:50599860 [GRCh38]
Chr17:48677221 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.4441G>A (p.Val1481Ile) single nucleotide variant not provided [RCV003223898] Chr17:50606918 [GRCh38]
Chr17:48684279 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6173G>A (p.Ser2058Asn) single nucleotide variant Inborn genetic diseases [RCV003202408] Chr17:50624019 [GRCh38]
Chr17:48701380 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.4758A>G (p.Ser1586=) single nucleotide variant not provided [RCV003218943] Chr17:50609934 [GRCh38]
Chr17:48687295 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1025A>G (p.Tyr342Cys) single nucleotide variant not provided [RCV003227193] Chr17:50572832 [GRCh38]
Chr17:48650193 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.5951T>C (p.Leu1984Pro) single nucleotide variant not provided [RCV003227368] Chr17:50621685 [GRCh38]
Chr17:48699046 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.4796G>A (p.Arg1599His) single nucleotide variant Inborn genetic diseases [RCV003186154] Chr17:50615397 [GRCh38]
Chr17:48692758 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2549C>T (p.Ala850Val) single nucleotide variant Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits [RCV003224923] Chr17:50591530 [GRCh38]
Chr17:48668891 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_018896.5(CACNA1G):c.578G>A (p.Arg193Gln) single nucleotide variant not provided [RCV003143919] Chr17:50569795 [GRCh38]
Chr17:48647156 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6353C>T (p.Pro2118Leu) single nucleotide variant not provided [RCV003143920] Chr17:50624483 [GRCh38]
Chr17:48701844 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6272A>G (p.Tyr2091Cys) single nucleotide variant not provided [RCV003143921] Chr17:50624402 [GRCh38]
Chr17:48701763 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3710G>A (p.Arg1237His) single nucleotide variant not provided [RCV003143922] Chr17:50600745 [GRCh38]
Chr17:48678106 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6040_6043del (p.Leu2014fs) microsatellite not provided [RCV003143923] Chr17:50621770..50621773 [GRCh38]
Chr17:48699131..48699134 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1648G>A (p.Ala550Thr) single nucleotide variant not provided [RCV003143924] Chr17:50576050 [GRCh38]
Chr17:48653411 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.5836G>A (p.Glu1946Lys) single nucleotide variant not provided [RCV003143925] Chr17:50619737 [GRCh38]
Chr17:48697098 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6948dup (p.Glu2317fs) duplication not provided [RCV003143926] Chr17:50626558..50626559 [GRCh38]
Chr17:48703919..48703920 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1540G>A (p.Ala514Thr) single nucleotide variant not provided [RCV003143927] Chr17:50575942 [GRCh38]
Chr17:48653303 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3648C>T (p.Asp1216=) single nucleotide variant not provided [RCV003143928] Chr17:50599817 [GRCh38]
Chr17:48677178 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.5558A>C (p.His1853Pro) single nucleotide variant not provided [RCV003143929] Chr17:50618785 [GRCh38]
Chr17:48696146 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1433C>A (p.Pro478His) single nucleotide variant not provided [RCV003143930] Chr17:50575835 [GRCh38]
Chr17:48653196 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.5238G>C (p.Leu1746=) single nucleotide variant Spinocerebellar ataxia type 42 [RCV003225916] Chr17:50618059 [GRCh38]
Chr17:48695420 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.5840T>C (p.Leu1947Pro) single nucleotide variant not provided [RCV003227305] Chr17:50619741 [GRCh38]
Chr17:48697102 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.4781A>C (p.Tyr1594Ser) single nucleotide variant not provided [RCV003228334] Chr17:50615382 [GRCh38]
Chr17:48692743 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1648G>T (p.Ala550Ser) single nucleotide variant not provided [RCV003227416] Chr17:50576050 [GRCh38]
Chr17:48653411 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3299C>T (p.Ala1100Val) single nucleotide variant not provided [RCV003323228] Chr17:50599468 [GRCh38]
Chr17:48676829 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1613C>T (p.Ser538Leu) single nucleotide variant not provided [RCV003322067] Chr17:50576015 [GRCh38]
Chr17:48653376 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.5458A>T (p.Thr1820Ser) single nucleotide variant not provided [RCV003324889] Chr17:50618685 [GRCh38]
Chr17:48696046 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3977C>T (p.Thr1326Ile) single nucleotide variant not provided [RCV003323054] Chr17:50602881 [GRCh38]
Chr17:48680242 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2342T>C (p.Val781Ala) single nucleotide variant not provided [RCV003318979] Chr17:50590511 [GRCh38]
Chr17:48667872 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3800T>A (p.Leu1267His) single nucleotide variant not provided [RCV003318947] Chr17:50601059 [GRCh38]
Chr17:48678420 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1163A>G (p.Asn388Ser) single nucleotide variant not provided [RCV003324984] Chr17:50575565 [GRCh38]
Chr17:48652926 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1940C>T (p.Ser647Phe) single nucleotide variant not provided [RCV003325146] Chr17:50578203 [GRCh38]
Chr17:48655564 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.5326T>G (p.Cys1776Gly) single nucleotide variant not provided [RCV003319683] Chr17:50618242 [GRCh38]
Chr17:48695603 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3353G>C (p.Ser1118Thr) single nucleotide variant not provided [RCV003321307] Chr17:50599522 [GRCh38]
Chr17:48676883 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6772_6774delinsTCC (p.Pro2258Ser) indel not provided [RCV003325678] Chr17:50626389..50626391 [GRCh38]
Chr17:48703750..48703752 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.7015G>A (p.Asp2339Asn) single nucleotide variant not provided [RCV003328867] Chr17:50626632 [GRCh38]
Chr17:48703993 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6739T>C (p.Tyr2247His) single nucleotide variant not provided [RCV003329603] Chr17:50626356 [GRCh38]
Chr17:48703717 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2003C>T (p.Pro668Leu) single nucleotide variant not provided [RCV003329706] Chr17:50578266 [GRCh38]
Chr17:48655627 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1613C>G (p.Ser538Trp) single nucleotide variant not provided [RCV003329710] Chr17:50576015 [GRCh38]
Chr17:48653376 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2296G>A (p.Glu766Lys) single nucleotide variant not provided [RCV003326968] Chr17:50578559 [GRCh38]
Chr17:48655920 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1807A>G (p.Lys603Glu) single nucleotide variant Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits [RCV003340796]|not provided [RCV003491365] Chr17:50576209 [GRCh38]
Chr17:48653570 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.5720G>A (p.Gly1907Glu) single nucleotide variant Inborn genetic diseases [RCV003357875] Chr17:50618947 [GRCh38]
Chr17:48696308 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1796C>T (p.Pro599Leu) single nucleotide variant not provided [RCV003777385]|not specified [RCV003331635] Chr17:50576198 [GRCh38]
Chr17:48653559 [GRCh37]
Chr17:17q21.33		 benign|uncertain significance
NM_018896.5(CACNA1G):c.1395C>G (p.Leu465=) single nucleotide variant CACNA1G-related condition [RCV003908901]|not provided [RCV003419775] Chr17:50575797 [GRCh38]
Chr17:48653158 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.3501G>A (p.Glu1167=) single nucleotide variant not provided [RCV003419782] Chr17:50599670 [GRCh38]
Chr17:48677031 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.5769G>A (p.Leu1923=) single nucleotide variant not provided [RCV003419787] Chr17:50618996 [GRCh38]
Chr17:48696357 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.3381G>A (p.Glu1127=) single nucleotide variant not provided [RCV003419781] Chr17:50599550 [GRCh38]
Chr17:48676911 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.5002C>T (p.Arg1668Cys) single nucleotide variant Inborn genetic diseases [RCV003348161] Chr17:50616365 [GRCh38]
Chr17:48693726 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6860C>T (p.Pro2287Leu) single nucleotide variant Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits [RCV003444410] Chr17:50626477 [GRCh38]
Chr17:48703838 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.5572A>G (p.Asn1858Asp) single nucleotide variant Inborn genetic diseases [RCV003383011] Chr17:50618799 [GRCh38]
Chr17:48696160 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1771C>A (p.Pro591Thr) single nucleotide variant Inborn genetic diseases [RCV003370369] Chr17:50576173 [GRCh38]
Chr17:48653534 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.5407A>G (p.Asn1803Asp) single nucleotide variant Inborn genetic diseases [RCV003365043] Chr17:50618323 [GRCh38]
Chr17:48695684 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.68A>C (p.Asn23Thr) single nucleotide variant Inborn genetic diseases [RCV003347412] Chr17:50561527 [GRCh38]
Chr17:48638888 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3709C>A (p.Arg1237Ser) single nucleotide variant Inborn genetic diseases [RCV003354396] Chr17:50600744 [GRCh38]
Chr17:48678105 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.503C>T (p.Ser168Leu) single nucleotide variant not provided [RCV003332858] Chr17:50569720 [GRCh38]
Chr17:48647081 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6743G>T (p.Ser2248Ile) single nucleotide variant Inborn genetic diseases [RCV003376195] Chr17:50626360 [GRCh38]
Chr17:48703721 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3712G>A (p.Ala1238Thr) single nucleotide variant Inborn genetic diseases [RCV003349697] Chr17:50600747 [GRCh38]
Chr17:48678108 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1140C>T (p.Ile380=) single nucleotide variant not provided [RCV003875336] Chr17:50573113 [GRCh38]
Chr17:48650474 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.156G>A (p.Pro52=) single nucleotide variant not provided [RCV003457268] Chr17:50561615 [GRCh38]
Chr17:48638976 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.3791+12G>A single nucleotide variant not provided [RCV003570634] Chr17:50600838 [GRCh38]
Chr17:48678199 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.1889G>A (p.Ser630Asn) single nucleotide variant not provided [RCV003571863] Chr17:50576291 [GRCh38]
Chr17:48653652 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.488+8C>G single nucleotide variant not provided [RCV003875512] Chr17:50569306 [GRCh38]
Chr17:48646667 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.2509C>T (p.Arg837Cys) single nucleotide variant Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits [RCV003494511] Chr17:50591490 [GRCh38]
Chr17:48668851 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.354+5GT[18] microsatellite not provided [RCV003419773] Chr17:50568985..50568986 [GRCh38]
Chr17:48646346..48646347 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.606G>A (p.Thr202=) single nucleotide variant not provided [RCV003419774] Chr17:50571897 [GRCh38]
Chr17:48649258 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.1413C>T (p.Leu471=) single nucleotide variant not provided [RCV003419776] Chr17:50575815 [GRCh38]
Chr17:48653176 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.6059A>G (p.Asn2020Ser) single nucleotide variant not provided [RCV003443887] Chr17:50621793 [GRCh38]
Chr17:48699154 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.7099G>A (p.Gly2367Ser) single nucleotide variant not provided [RCV003421364] Chr17:50626716 [GRCh38]
Chr17:48704077 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.2614C>A (p.Leu872Ile) single nucleotide variant Spinocerebellar ataxia type 42 [RCV003445296] Chr17:50591595 [GRCh38]
Chr17:48668956 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6033A>C (p.Thr2011=) single nucleotide variant not specified [RCV003479565] Chr17:50621767 [GRCh38]
Chr17:48699128 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.3690+1G>C single nucleotide variant CACNA1G-related condition [RCV003399999] Chr17:50599860 [GRCh38]
Chr17:48677221 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1629C>T (p.Ser543=) single nucleotide variant not provided [RCV003428329] Chr17:50576031 [GRCh38]
Chr17:48653392 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.6240G>T (p.Leu2080Phe) single nucleotide variant not provided [RCV003442726] Chr17:50624370 [GRCh38]
Chr17:48701731 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.5357G>A (p.Arg1786Gln) single nucleotide variant not provided [RCV003428339] Chr17:50618273 [GRCh38]
Chr17:48695634 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6394C>T (p.Arg2132Cys) single nucleotide variant not provided [RCV003428340] Chr17:50624524 [GRCh38]
Chr17:48701885 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6234C>T (p.Ser2078=) single nucleotide variant not specified [RCV003405128] Chr17:50624364 [GRCh38]
Chr17:48701725 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.6617A>G (p.Lys2206Arg) single nucleotide variant not provided [RCV003443568] Chr17:50626234 [GRCh38]
Chr17:48703595 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1229G>A (p.Arg410Gln) single nucleotide variant not provided [RCV003428327] Chr17:50575631 [GRCh38]
Chr17:48652992 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3634C>T (p.Leu1212=) single nucleotide variant not provided [RCV003419783] Chr17:50599803 [GRCh38]
Chr17:48677164 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.3891C>A (p.Arg1297=) single nucleotide variant not provided [RCV003419785] Chr17:50601150 [GRCh38]
Chr17:48678511 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.6092C>T (p.Pro2031Leu) single nucleotide variant not provided [RCV003419788] Chr17:50623938 [GRCh38]
Chr17:48701299 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3218G>T (p.Gly1073Val) single nucleotide variant Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits [RCV003444509] Chr17:50596883 [GRCh38]
Chr17:48674244 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2631C>T (p.Phe877=) single nucleotide variant not provided [RCV003825563] Chr17:50591612 [GRCh38]
Chr17:48668973 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.3207C>A (p.Thr1069=) single nucleotide variant not provided [RCV003419780] Chr17:50596872 [GRCh38]
Chr17:48674233 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.4412A>G (p.Asn1471Ser) single nucleotide variant not provided [RCV003419786] Chr17:50606013 [GRCh38]
Chr17:48683374 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2180C>T (p.Ala727Val) single nucleotide variant not provided [RCV003419777] Chr17:50578443 [GRCh38]
Chr17:48655804 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3728G>A (p.Arg1243Gln) single nucleotide variant not provided [RCV003419784] Chr17:50600763 [GRCh38]
Chr17:48678124 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_018896.5(CACNA1G):c.3168G>A (p.Thr1056=) single nucleotide variant not provided [RCV003419778] Chr17:50596833 [GRCh38]
Chr17:48674194 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.2847C>T (p.Thr949=) single nucleotide variant not provided [RCV003428331] Chr17:50592029 [GRCh38]
Chr17:48669390 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.3599A>G (p.Asn1200Ser) single nucleotide variant not provided [RCV003428332] Chr17:50599768 [GRCh38]
Chr17:48677129 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3653C>G (p.Pro1218Arg) single nucleotide variant not provided [RCV003428333] Chr17:50599822 [GRCh38]
Chr17:48677183 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.4422+177C>T single nucleotide variant not provided [RCV003428337] Chr17:50606200 [GRCh38]
Chr17:48683561 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.5094C>T (p.Asn1698=) single nucleotide variant not provided [RCV003428338] Chr17:50617510 [GRCh38]
Chr17:48694871 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.6938T>C (p.Ile2313Thr) single nucleotide variant CACNA1G-related condition [RCV003412374] Chr17:50626555 [GRCh38]
Chr17:48703916 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1630G>A (p.Gly544Arg) single nucleotide variant CACNA1G-related condition [RCV003414493] Chr17:50576032 [GRCh38]
Chr17:48653393 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6418_6419del (p.Ser2140fs) deletion CACNA1G-related condition [RCV003402509] Chr17:50626034..50626035 [GRCh38]
Chr17:48703395..48703396 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.442C>T (p.Leu148=) single nucleotide variant not provided [RCV003413263] Chr17:50569252 [GRCh38]
Chr17:48646613 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.800G>A (p.Ser267Asn) single nucleotide variant not provided [RCV003413264] Chr17:50572607 [GRCh38]
Chr17:48649968 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3339C>T (p.Leu1113=) single nucleotide variant not provided [RCV003413266] Chr17:50599508 [GRCh38]
Chr17:48676869 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.3344G>A (p.Arg1115His) single nucleotide variant not provided [RCV003413267] Chr17:50599513 [GRCh38]
Chr17:48676874 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3628C>T (p.Arg1210Trp) single nucleotide variant not provided [RCV003413268] Chr17:50599797 [GRCh38]
Chr17:48677158 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.4326G>A (p.Gln1442=) single nucleotide variant not provided [RCV003413269] Chr17:50605927 [GRCh38]
Chr17:48683288 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.5961G>A (p.Thr1987=) single nucleotide variant not provided [RCV003413270] Chr17:50621695 [GRCh38]
Chr17:48699056 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.6875G>A (p.Gly2292Asp) single nucleotide variant not provided [RCV003413271] Chr17:50626492 [GRCh38]
Chr17:48703853 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.6975C>T (p.Pro2325=) single nucleotide variant not provided [RCV003413272] Chr17:50626592 [GRCh38]
Chr17:48703953 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.7107C>T (p.Ser2369=) single nucleotide variant not provided [RCV003413273] Chr17:50626724 [GRCh38]
Chr17:48704085 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.3202C>T (p.Arg1068Cys) single nucleotide variant not provided [RCV003419779] Chr17:50596867 [GRCh38]
Chr17:48674228 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_018896.5(CACNA1G):c.146A>T (p.Glu49Val) single nucleotide variant CACNA1G-related condition [RCV003408749]|not provided [RCV003427925] Chr17:50561605 [GRCh38]
Chr17:48638966 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2817G>T (p.Trp939Cys) single nucleotide variant not provided [RCV003441234] Chr17:50591999 [GRCh38]
Chr17:48669360 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3921C>T (p.Arg1307=) single nucleotide variant not provided [RCV003428334] Chr17:50602825 [GRCh38]
Chr17:48680186 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.2390A>G (p.Tyr797Cys) single nucleotide variant not provided [RCV003413265] Chr17:50590559 [GRCh38]
Chr17:48667920 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.4071C>T (p.Ser1357=) single nucleotide variant not provided [RCV003428335] Chr17:50603101 [GRCh38]
Chr17:48680462 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.4422+134C>T single nucleotide variant not provided [RCV003428336] Chr17:50606157 [GRCh38]
Chr17:48683518 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.1842T>G (p.Ser614=) single nucleotide variant not provided [RCV003428330] Chr17:50576244 [GRCh38]
Chr17:48653605 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.1302G>A (p.Glu434=) single nucleotide variant not provided [RCV003428328] Chr17:50575704 [GRCh38]
Chr17:48653065 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.6426C>T (p.Asp2142=) single nucleotide variant not provided [RCV003421362] Chr17:50626043 [GRCh38]
Chr17:48703404 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.6929G>A (p.Ser2310Asn) single nucleotide variant not provided [RCV003421363] Chr17:50626546 [GRCh38]
Chr17:48703907 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2416C>G (p.Pro806Ala) single nucleotide variant not provided [RCV003715070] Chr17:50590585 [GRCh38]
Chr17:48667946 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.5214G>A (p.Gln1738=) single nucleotide variant not provided [RCV003878833] Chr17:50617917 [GRCh38]
Chr17:48695278 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.3198G>C (p.Ser1066=) single nucleotide variant not provided [RCV003830186] Chr17:50596863 [GRCh38]
Chr17:48674224 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.2754+5G>A single nucleotide variant not provided [RCV003878875] Chr17:50591858 [GRCh38]
Chr17:48669219 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1470C>T (p.Ser490=) single nucleotide variant not provided [RCV003546241] Chr17:50575872 [GRCh38]
Chr17:48653233 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.3065-7C>T single nucleotide variant not provided [RCV003828944] Chr17:50596723 [GRCh38]
Chr17:48674084 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.6848_6854del (p.Leu2283fs) deletion not provided [RCV003686868] Chr17:50626464..50626470 [GRCh38]
Chr17:48703825..48703831 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.488+13G>A single nucleotide variant not provided [RCV003662666] Chr17:50569311 [GRCh38]
Chr17:48646672 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.3913G>A (p.Ala1305Thr) single nucleotide variant not provided [RCV003829659] Chr17:50601172 [GRCh38]
Chr17:48678533 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.687C>T (p.Gly229=) single nucleotide variant not provided [RCV003826083] Chr17:50571978 [GRCh38]
Chr17:48649339 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.6091C>G (p.Pro2031Ala) single nucleotide variant not provided [RCV003695581] Chr17:50623937 [GRCh38]
Chr17:48701298 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3143T>C (p.Met1048Thr) single nucleotide variant not provided [RCV003695604] Chr17:50596808 [GRCh38]
Chr17:48674169 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1557G>A (p.Pro519=) single nucleotide variant not provided [RCV003739248] Chr17:50575959 [GRCh38]
Chr17:48653320 [GRCh37]
Chr17:17q21.33		 likely benign
Single allele deletion Tricho-dento-osseous syndrome [RCV003494599] Chr17:46740736..48853218 [GRCh37]
Chr17:17q21.32-21.33		 pathogenic
NM_018896.5(CACNA1G):c.2684G>A (p.Arg895Gln) single nucleotide variant not provided [RCV003830423] Chr17:50591783 [GRCh38]
Chr17:48669144 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3461C>T (p.Ala1154Val) single nucleotide variant not provided [RCV003661130] Chr17:50599630 [GRCh38]
Chr17:48676991 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.3876C>G (p.Thr1292=) single nucleotide variant not provided [RCV003545115] Chr17:50601135 [GRCh38]
Chr17:48678496 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.5317A>G (p.Thr1773Ala) single nucleotide variant not provided [RCV003547477] Chr17:50618233 [GRCh38]
Chr17:48695594 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.5829G>A (p.Leu1943=) single nucleotide variant not provided [RCV003573417] Chr17:50619730 [GRCh38]
Chr17:48697091 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3427G>A (p.Glu1143Lys) single nucleotide variant not provided [RCV003714995] Chr17:50599596 [GRCh38]
Chr17:48676957 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.5686G>A (p.Glu1896Lys) single nucleotide variant not provided [RCV003827751] Chr17:50618913 [GRCh38]
Chr17:48696274 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.4911+3A>G single nucleotide variant not provided [RCV003547202] Chr17:50615515 [GRCh38]
Chr17:48692876 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6096C>T (p.Asp2032=) single nucleotide variant not provided [RCV003882587] Chr17:50623942 [GRCh38]
Chr17:48701303 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.7080A>C (p.Lys2360Asn) single nucleotide variant not provided [RCV003824804] Chr17:50626697 [GRCh38]
Chr17:48704058 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1776C>T (p.Thr592=) single nucleotide variant not provided [RCV003739843] Chr17:50576178 [GRCh38]
Chr17:48653539 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.999C>T (p.Gly333=) single nucleotide variant not provided [RCV003662838] Chr17:50572806 [GRCh38]
Chr17:48650167 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.73C>T (p.Leu25=) single nucleotide variant not provided [RCV003824902] Chr17:50561532 [GRCh38]
Chr17:48638893 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.6457C>T (p.Leu2153=) single nucleotide variant not provided [RCV003690841] Chr17:50626074 [GRCh38]
Chr17:48703435 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.4735G>A (p.Gly1579Ser) single nucleotide variant not specified [RCV003489633] Chr17:50609911 [GRCh38]
Chr17:48687272 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.5782-6C>T single nucleotide variant not provided [RCV003713705] Chr17:50619677 [GRCh38]
Chr17:48697038 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.4093A>G (p.Met1365Val) single nucleotide variant not provided [RCV003490532] Chr17:50603123 [GRCh38]
Chr17:48680484 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.5664C>G (p.Ser1888Arg) single nucleotide variant not provided [RCV003714145] Chr17:50618891 [GRCh38]
Chr17:48696252 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.852C>T (p.Ser284=) single nucleotide variant not provided [RCV003548865] Chr17:50572659 [GRCh38]
Chr17:48650020 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.6608A>C (p.Asn2203Thr) single nucleotide variant not provided [RCV003833039] Chr17:50626225 [GRCh38]
Chr17:48703586 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.5226+19dup duplication not provided [RCV003663718] Chr17:50617942..50617943 [GRCh38]
Chr17:48695303..48695304 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.6964C>T (p.Arg2322Trp) single nucleotide variant not provided [RCV003850062] Chr17:50626581 [GRCh38]
Chr17:48703942 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.2979+8C>T single nucleotide variant not provided [RCV003725596] Chr17:50595069 [GRCh38]
Chr17:48672430 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2109C>T (p.Ser703=) single nucleotide variant not provided [RCV003725728] Chr17:50578372 [GRCh38]
Chr17:48655733 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.1292G>A (p.Ser431Asn) single nucleotide variant not provided [RCV003670276] Chr17:50575694 [GRCh38]
Chr17:48653055 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2210G>A (p.Arg737Gln) single nucleotide variant not provided [RCV003674260] Chr17:50578473 [GRCh38]
Chr17:48655834 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.2211A>T (p.Arg737=) single nucleotide variant not provided [RCV003674261] Chr17:50578474 [GRCh38]
Chr17:48655835 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.3915+16C>T single nucleotide variant not provided [RCV003811438] Chr17:50601190 [GRCh38]
Chr17:48678551 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.5427+18G>A single nucleotide variant not provided [RCV003811986] Chr17:50618361 [GRCh38]
Chr17:48695722 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.192G>A (p.Leu64=) single nucleotide variant not provided [RCV003833130] Chr17:50561651 [GRCh38]
Chr17:48639012 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.5428-13C>T single nucleotide variant not provided [RCV003810908] Chr17:50618642 [GRCh38]
Chr17:48696003 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.2321C>T (p.Ala774Val) single nucleotide variant not provided [RCV003835738] Chr17:50590490 [GRCh38]
Chr17:48667851 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1915C>G (p.Gln639Glu) single nucleotide variant not provided [RCV003548377] Chr17:50576317 [GRCh38]
Chr17:48653678 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.1047+8A>G single nucleotide variant not provided [RCV003817504] Chr17:50572862 [GRCh38]
Chr17:48650223 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.2373G>A (p.Leu791=) single nucleotide variant not provided [RCV003816601] Chr17:50590542 [GRCh38]
Chr17:48667903 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.6106G>A (p.Val2036Met) single nucleotide variant not provided [RCV003669081] Chr17:50623952 [GRCh38]
Chr17:48701313 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3916-11del deletion not provided [RCV003667691] Chr17:50602806 [GRCh38]
Chr17:48680167 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.5975C>G (p.Ser1992Cys) single nucleotide variant not provided [RCV003665564] Chr17:50621709 [GRCh38]
Chr17:48699070 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6119G>T (p.Gly2040Val) single nucleotide variant not provided [RCV003726216] Chr17:50623965 [GRCh38]
Chr17:48701326 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.974C>G (p.Ala325Gly) single nucleotide variant not provided [RCV003580802] Chr17:50572781 [GRCh38]
Chr17:48650142 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3033_3034delinsAT (p.Asp1011_Gly1012delinsGluCys) indel not provided [RCV003813849] Chr17:50596615..50596616 [GRCh38]
Chr17:48673976..48673977 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6721C>T (p.Arg2241Trp) single nucleotide variant not provided [RCV003558039] Chr17:50626338 [GRCh38]
Chr17:48703699 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.13G>C (p.Glu5Gln) single nucleotide variant not provided [RCV003701817] Chr17:50561472 [GRCh38]
Chr17:48638833 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1442G>A (p.Ser481Asn) single nucleotide variant not provided [RCV003725945] Chr17:50575844 [GRCh38]
Chr17:48653205 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.1188G>T (p.Thr396=) single nucleotide variant not provided [RCV003724446] Chr17:50575590 [GRCh38]
Chr17:48652951 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.1577C>T (p.Ala526Val) single nucleotide variant not provided [RCV003817092] Chr17:50575979 [GRCh38]
Chr17:48653340 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1407A>C (p.Ala469=) single nucleotide variant not provided [RCV003725088] Chr17:50575809 [GRCh38]
Chr17:48653170 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.5695G>A (p.Asp1899Asn) single nucleotide variant not provided [RCV003724696] Chr17:50618922 [GRCh38]
Chr17:48696283 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.6081G>C (p.Glu2027Asp) single nucleotide variant not provided [RCV003559045] Chr17:50623927 [GRCh38]
Chr17:48701288 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.89G>A (p.Gly30Asp) single nucleotide variant not provided [RCV003724707] Chr17:50561548 [GRCh38]
Chr17:48638909 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6230-18G>A single nucleotide variant not provided [RCV003839151] Chr17:50624342 [GRCh38]
Chr17:48701703 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.6446G>A (p.Arg2149Gln) single nucleotide variant not provided [RCV003726091] Chr17:50626063 [GRCh38]
Chr17:48703424 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.5226+14G>C single nucleotide variant not provided [RCV003814114] Chr17:50617943 [GRCh38]
Chr17:48695304 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.3430G>A (p.Glu1144Lys) single nucleotide variant not provided [RCV003810888] Chr17:50599599 [GRCh38]
Chr17:48676960 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.165G>A (p.Ala55=) single nucleotide variant not provided [RCV003717586] Chr17:50561624 [GRCh38]
Chr17:48638985 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.1236G>A (p.Gln412=) single nucleotide variant not provided [RCV003854513] Chr17:50575638 [GRCh38]
Chr17:48652999 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.164C>T (p.Ala55Val) single nucleotide variant not provided [RCV003668043] Chr17:50561623 [GRCh38]
Chr17:48638984 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.6483G>A (p.Pro2161=) single nucleotide variant not provided [RCV003816153] Chr17:50626100 [GRCh38]
Chr17:48703461 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.663C>T (p.Val221=) single nucleotide variant not provided [RCV003725484] Chr17:50571954 [GRCh38]
Chr17:48649315 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.6453C>A (p.Asp2151Glu) single nucleotide variant not provided [RCV003835864] Chr17:50626070 [GRCh38]
Chr17:48703431 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.488+6G>A single nucleotide variant not provided [RCV003814888] Chr17:50569304 [GRCh38]
Chr17:48646665 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3748G>A (p.Glu1250Lys) single nucleotide variant not provided [RCV003559125] Chr17:50600783 [GRCh38]
Chr17:48678144 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.5226+5C>A single nucleotide variant not provided [RCV003557866] Chr17:50617934 [GRCh38]
Chr17:48695295 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1604C>T (p.Pro535Leu) single nucleotide variant not provided [RCV003665426] Chr17:50576006 [GRCh38]
Chr17:48653367 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3475C>T (p.Arg1159Cys) single nucleotide variant not provided [RCV003836253] Chr17:50599644 [GRCh38]
Chr17:48677005 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.484G>T (p.Ala162Ser) single nucleotide variant not provided [RCV003855222] Chr17:50569294 [GRCh38]
Chr17:48646655 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1864C>T (p.Leu622Phe) single nucleotide variant not provided [RCV003834711] Chr17:50576266 [GRCh38]
Chr17:48653627 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3456C>T (p.Ser1152=) single nucleotide variant not provided [RCV003823064] Chr17:50599625 [GRCh38]
Chr17:48676986 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.1451G>A (p.Arg484His) single nucleotide variant not provided [RCV003730055] Chr17:50575853 [GRCh38]
Chr17:48653214 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.322G>A (p.Ala108Thr) single nucleotide variant not provided [RCV003562609] Chr17:50568949 [GRCh38]
Chr17:48646310 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.4759+14G>A single nucleotide variant not provided [RCV003682109] Chr17:50609949 [GRCh38]
Chr17:48687310 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.5747G>T (p.Arg1916Ile) single nucleotide variant not provided [RCV003841322] Chr17:50618974 [GRCh38]
Chr17:48696335 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.4371G>A (p.Glu1457=) single nucleotide variant not provided [RCV003822771] Chr17:50605972 [GRCh38]
Chr17:48683333 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.2070C>T (p.Ser690=) single nucleotide variant not provided [RCV003734953] Chr17:50578333 [GRCh38]
Chr17:48655694 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.4706-17G>A single nucleotide variant not provided [RCV003823667] Chr17:50609865 [GRCh38]
Chr17:48687226 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.4671G>T (p.Glu1557Asp) single nucleotide variant not provided [RCV003562640] Chr17:50607985 [GRCh38]
Chr17:48685346 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6961C>G (p.Pro2321Ala) single nucleotide variant not provided [RCV003674947] Chr17:50626578 [GRCh38]
Chr17:48703939 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.279C>G (p.Leu93=) single nucleotide variant not provided [RCV003736256] Chr17:50568906 [GRCh38]
Chr17:48646267 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.3551A>G (p.His1184Arg) single nucleotide variant not provided [RCV003556529] Chr17:50599720 [GRCh38]
Chr17:48677081 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.5305+19G>A single nucleotide variant not provided [RCV003822318] Chr17:50618145 [GRCh38]
Chr17:48695506 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.4710A>G (p.Leu1570=) single nucleotide variant not provided [RCV003682862] Chr17:50609886 [GRCh38]
Chr17:48687247 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.5793G>A (p.Leu1931=) single nucleotide variant not provided [RCV003727140] Chr17:50619694 [GRCh38]
Chr17:48697055 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.1926T>C (p.Gly642=) single nucleotide variant not provided [RCV003722006] Chr17:50578189 [GRCh38]
Chr17:48655550 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.6243C>T (p.Ser2081=) single nucleotide variant not provided [RCV003722007] Chr17:50624373 [GRCh38]
Chr17:48701734 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3755A>G (p.Asp1252Gly) single nucleotide variant not provided [RCV003719400] Chr17:50600790 [GRCh38]
Chr17:48678151 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2302-8C>A single nucleotide variant not provided [RCV003721237] Chr17:50590463 [GRCh38]
Chr17:48667824 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.5428G>C (p.Asp1810His) single nucleotide variant CACNA1G-related condition [RCV003939789] Chr17:50618655 [GRCh38]
Chr17:48696016 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.4422+3G>A single nucleotide variant not provided [RCV003683920] Chr17:50606026 [GRCh38]
Chr17:48683387 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6924G>A (p.Pro2308=) single nucleotide variant not provided [RCV003735762] Chr17:50626541 [GRCh38]
Chr17:48703902 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.285C>T (p.Cys95=) single nucleotide variant not provided [RCV003731965] Chr17:50568912 [GRCh38]
Chr17:48646273 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.123G>T (p.Pro41=) single nucleotide variant not provided [RCV003736157] Chr17:50561582 [GRCh38]
Chr17:48638943 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.6741C>T (p.Tyr2247=) single nucleotide variant not provided [RCV003556687] Chr17:50626358 [GRCh38]
Chr17:48703719 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.639C>T (p.Asn213=) single nucleotide variant not provided [RCV003556846] Chr17:50571930 [GRCh38]
Chr17:48649291 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.2047C>T (p.Arg683Cys) single nucleotide variant not provided [RCV003553062] Chr17:50578310 [GRCh38]
Chr17:48655671 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.5346T>C (p.His1782=) single nucleotide variant not provided [RCV003721772] Chr17:50618262 [GRCh38]
Chr17:48695623 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.4785C>G (p.Ser1595=) single nucleotide variant not provided [RCV003720133] Chr17:50615386 [GRCh38]
Chr17:48692747 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.6946C>G (p.Pro2316Ala) single nucleotide variant not provided [RCV003720167] Chr17:50626563 [GRCh38]
Chr17:48703924 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.5985C>T (p.Ser1995=) single nucleotide variant not provided [RCV003720168] Chr17:50621719 [GRCh38]
Chr17:48699080 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.3915+18C>T single nucleotide variant not provided [RCV003868548] Chr17:50601192 [GRCh38]
Chr17:48678553 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.621G>A (p.Thr207=) single nucleotide variant not provided [RCV003822566] Chr17:50571912 [GRCh38]
Chr17:48649273 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.3629G>A (p.Arg1210Gln) single nucleotide variant not provided [RCV003731293] Chr17:50599798 [GRCh38]
Chr17:48677159 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.3356T>C (p.Leu1119Pro) single nucleotide variant not provided [RCV003720192] Chr17:50599525 [GRCh38]
Chr17:48676886 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1925-11_1925-10del microsatellite not provided [RCV003822676] Chr17:50578174..50578175 [GRCh38]
Chr17:48655535..48655536 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.5984C>T (p.Ser1995Phe) single nucleotide variant not provided [RCV003870161] Chr17:50621718 [GRCh38]
Chr17:48699079 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.4912-17G>T single nucleotide variant not provided [RCV003869693] Chr17:50616258 [GRCh38]
Chr17:48693619 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.6131C>T (p.Thr2044Met) single nucleotide variant not provided [RCV003843585] Chr17:50623977 [GRCh38]
Chr17:48701338 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3703C>T (p.Arg1235Trp) single nucleotide variant not provided [RCV003853468] Chr17:50600738 [GRCh38]
Chr17:48678099 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3362G>A (p.Arg1121Gln) single nucleotide variant not provided [RCV003841135] Chr17:50599531 [GRCh38]
Chr17:48676892 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.873C>T (p.Asp291=) single nucleotide variant not provided [RCV003722301] Chr17:50572680 [GRCh38]
Chr17:48650041 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.4750G>A (p.Ala1584Thr) single nucleotide variant not provided [RCV003556979] Chr17:50609926 [GRCh38]
Chr17:48687287 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.2244A>C (p.Gly748=) single nucleotide variant not provided [RCV003675408] Chr17:50578507 [GRCh38]
Chr17:48655868 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.4582G>C (p.Val1528Leu) single nucleotide variant not provided [RCV003680984] Chr17:50607896 [GRCh38]
Chr17:48685257 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1244G>A (p.Arg415Gln) single nucleotide variant not provided [RCV003865670] Chr17:50575646 [GRCh38]
Chr17:48653007 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.1647C>T (p.Gly549=) single nucleotide variant CACNA1G-related condition [RCV003946745]|not provided [RCV003565940] Chr17:50576049 [GRCh38]
Chr17:48653410 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.242+19C>G single nucleotide variant not provided [RCV003862350] Chr17:50561720 [GRCh38]
Chr17:48639081 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2787C>T (p.Leu929=) single nucleotide variant not provided [RCV003846066] Chr17:50591969 [GRCh38]
Chr17:48669330 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.2664C>T (p.Gly888=) single nucleotide variant not provided [RCV003728221] Chr17:50591763 [GRCh38]
Chr17:48669124 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.2639+6GGC[3] microsatellite not provided [RCV003710639] Chr17:50591625..50591626 [GRCh38]
Chr17:48668986..48668987 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.3272G>T (p.Ser1091Ile) single nucleotide variant not provided [RCV003862876] Chr17:50599441 [GRCh38]
Chr17:48676802 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.5156-11C>T single nucleotide variant not provided [RCV003820957] Chr17:50617848 [GRCh38]
Chr17:48695209 [GRCh37]
Chr17:17q21.33		 benign
NM_018896.5(CACNA1G):c.488+9C>T single nucleotide variant not provided [RCV003552049] Chr17:50569307 [GRCh38]
Chr17:48646668 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.4047G>T (p.Leu1349=) single nucleotide variant not provided [RCV003842370] Chr17:50603077 [GRCh38]
Chr17:48680438 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.4682G>A (p.Arg1561Gln) single nucleotide variant CACNA1G-related condition [RCV003901291]|not provided [RCV003707696] Chr17:50607996 [GRCh38]
Chr17:48685357 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_018896.5(CACNA1G):c.1717C>A (p.Pro573Thr) single nucleotide variant not provided [RCV003551787] Chr17:50576119 [GRCh38]
Chr17:48653480 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.5021+6G>A single nucleotide variant not provided [RCV003822926] Chr17:50616390 [GRCh38]
Chr17:48693751 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.103G>A (p.Gly35Arg) single nucleotide variant CACNA1G-related condition [RCV003969752] Chr17:50561562 [GRCh38]
Chr17:48638923 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.6152G>A (p.Ser2051Asn) single nucleotide variant not provided [RCV003887769] Chr17:50623998 [GRCh38]
Chr17:48701359 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.5471C>T (p.Thr1824Met) single nucleotide variant not provided [RCV003884136] Chr17:50618698 [GRCh38]
Chr17:48696059 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3669C>T (p.Asp1223=) single nucleotide variant not provided [RCV003884155] Chr17:50599838 [GRCh38]
Chr17:48677199 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.2453+10C>A single nucleotide variant CACNA1G-related condition [RCV003967097] Chr17:50590632 [GRCh38]
Chr17:48667993 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.586+10C>T single nucleotide variant CACNA1G-related condition [RCV003894624] Chr17:50569813 [GRCh38]
Chr17:48647174 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.621G>T (p.Thr207=) single nucleotide variant CACNA1G-related condition [RCV003946992] Chr17:50571912 [GRCh38]
Chr17:48649273 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.1765G>T (p.Val589Leu) single nucleotide variant not provided [RCV003887125] Chr17:50576167 [GRCh38]
Chr17:48653528 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.4705+5G>A single nucleotide variant CACNA1G-related condition [RCV003899671] Chr17:50608024 [GRCh38]
Chr17:48685385 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.6692del (p.Pro2231fs) deletion not specified [RCV003988335] Chr17:50626305 [GRCh38]
Chr17:48703666 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.2243G>C (p.Gly748Ala) single nucleotide variant not provided [RCV003886676] Chr17:50578506 [GRCh38]
Chr17:48655867 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.4296+5G>A single nucleotide variant not provided [RCV003887134] Chr17:50604286 [GRCh38]
Chr17:48681647 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.3816C>T (p.Ile1272=) single nucleotide variant CACNA1G-related condition [RCV003907146] Chr17:50601075 [GRCh38]
Chr17:48678436 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.2755-8G>T single nucleotide variant CACNA1G-related condition [RCV003949498] Chr17:50591929 [GRCh38]
Chr17:48669290 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.6977G>A (p.Ser2326Asn) single nucleotide variant CACNA1G-related condition [RCV003944255] Chr17:50626594 [GRCh38]
Chr17:48703955 [GRCh37]
Chr17:17q21.33		 likely benign
NM_018896.5(CACNA1G):c.1580A>G (p.Asn527Ser) single nucleotide variant not provided [RCV003886714] Chr17:50575982 [GRCh38]
Chr17:48653343 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_018896.5(CACNA1G):c.4657C>G (p.Arg1553Gly) single nucleotide variant Spinocerebellar ataxia type 42 [RCV003337934] Chr17:50607971 [GRCh38]
Chr17:48685332 [GRCh37]
Chr17:17q21.33		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:14635
Count of miRNA genes:1010
Interacting mature miRNAs:1246
Transcripts:ENST00000352832, ENST00000354983, ENST00000358244, ENST00000359106, ENST00000360761, ENST00000416767, ENST00000429973, ENST00000442258, ENST00000502264, ENST00000503436, ENST00000503485, ENST00000503607, ENST00000504076, ENST00000505165, ENST00000506406, ENST00000506520, ENST00000507336, ENST00000507510, ENST00000507609, ENST00000507896, ENST00000510115, ENST00000510366, ENST00000511765, ENST00000511768, ENST00000512389, ENST00000513689, ENST00000513964, ENST00000514079, ENST00000514181, ENST00000514717, ENST00000515165, ENST00000515411, ENST00000515765, ENST00000570567
Prediction methods:Microtar, Miranda, Pita, 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.

Markers in Region
RH78047  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371748,704,100 - 48,704,220UniSTSGRCh37
Build 361746,059,099 - 46,059,219RGDNCBI36
Celera1745,165,475 - 45,165,595RGD
Cytogenetic Map17q22UniSTS
HuRef1744,072,101 - 44,072,221UniSTS
GeneMap99-GB4 RH Map17347.1UniSTS
NCBI RH Map17604.8UniSTS
D17S747  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371748,667,217 - 48,667,335UniSTSGRCh37
Build 361746,022,216 - 46,022,334RGDNCBI36
Celera1745,128,593 - 45,128,711RGD
Cytogenetic Map17q22UniSTS
HuRef1744,035,305 - 44,035,425UniSTS
CACNA1G-SNP1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371748,646,917 - 48,647,344UniSTSGRCh37
Celera1745,108,277 - 45,108,704UniSTS
HuRef1744,014,874 - 44,015,301UniSTS
RH93018  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map17q22UniSTS
GeneMap99-GB4 RH Map17347.15UniSTS
CACNA1G-1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371748,692,791 - 48,693,721UniSTSGRCh37
Celera1745,154,165 - 45,155,095UniSTS
HuRef1744,060,788 - 44,061,718UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1 23 3 2 2 1 19 642 6 155 7 2 1
Low 540 632 464 41 71 20 1641 120 2022 30 1106 711 25 1 637 717 1 1
Below cutoff 1804 2157 1064 399 1346 261 2648 2027 1061 178 162 826 146 564 2052 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_032024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_198376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_198377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_198378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_198379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_198380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_198382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_198383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_198384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_198385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_198386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_198387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_198388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_198396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_046054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_046055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_046056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_046057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_046058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006722160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006722161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB012043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB032949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC021491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF124351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF126965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF126966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF134985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF134986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF190860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF227744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF227745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF227746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF227747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF227748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF227749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF227750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF227751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH007322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC110995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ494449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ494450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ494451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ494452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ494453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ494454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ494455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ494456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ494457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ494458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ494459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ494460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ494461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ494462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ494463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ494464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ494465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ494466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ494467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ494468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ494469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ494470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ494471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ494472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ494473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ494474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ494475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ494476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ494477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ494478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ494479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB571393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB571395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB571397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB571399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB571401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB571403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB571405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB571407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB571409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB571411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB571413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB571415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB571417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB571419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB571421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ534993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ535064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  R43876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000352832   ⟹   ENSP00000339302
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,561,088 - 50,627,474 (+)Ensembl
RefSeq Acc Id: ENST00000354983   ⟹   ENSP00000347078
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,561,068 - 50,627,465 (+)Ensembl
RefSeq Acc Id: ENST00000358244   ⟹   ENSP00000350979
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,561,460 - 50,627,265 (+)Ensembl
RefSeq Acc Id: ENST00000359106   ⟹   ENSP00000352011
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,560,715 - 50,627,474 (+)Ensembl
RefSeq Acc Id: ENST00000360761   ⟹   ENSP00000353990
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,561,068 - 50,627,070 (+)Ensembl
RefSeq Acc Id: ENST00000416767   ⟹   ENSP00000392390
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,561,432 - 50,606,472 (+)Ensembl
RefSeq Acc Id: ENST00000429973   ⟹   ENSP00000414388
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,561,460 - 50,627,070 (+)Ensembl
RefSeq Acc Id: ENST00000442258   ⟹   ENSP00000409759
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,561,285 - 50,627,070 (+)Ensembl
RefSeq Acc Id: ENST00000502264   ⟹   ENSP00000425522
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,561,460 - 50,626,751 (+)Ensembl
RefSeq Acc Id: ENST00000503436   ⟹   ENSP00000427231
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,561,460 - 50,626,766 (+)Ensembl
RefSeq Acc Id: ENST00000503485   ⟹   ENSP00000427238
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,561,460 - 50,626,766 (+)Ensembl
RefSeq Acc Id: ENST00000503607   ⟹   ENSP00000426558
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,561,460 - 50,626,766 (+)Ensembl
RefSeq Acc Id: ENST00000504076   ⟹   ENSP00000425153
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,561,460 - 50,626,766 (+)Ensembl
RefSeq Acc Id: ENST00000505165   ⟹   ENSP00000422268
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,561,460 - 50,626,766 (+)Ensembl
RefSeq Acc Id: ENST00000506406   ⟹   ENSP00000426313
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,561,460 - 50,626,766 (+)Ensembl
RefSeq Acc Id: ENST00000506520   ⟹   ENSP00000427697
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,599,725 - 50,607,510 (+)Ensembl
RefSeq Acc Id: ENST00000507336   ⟹   ENSP00000420918
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,561,460 - 50,626,766 (+)Ensembl
RefSeq Acc Id: ENST00000507510   ⟹   ENSP00000423112
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,561,460 - 50,626,766 (+)Ensembl
RefSeq Acc Id: ENST00000507609   ⟹   ENSP00000423045
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,561,460 - 50,626,766 (+)Ensembl
RefSeq Acc Id: ENST00000507896   ⟹   ENSP00000421518
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,561,460 - 50,626,766 (+)Ensembl
RefSeq Acc Id: ENST00000510115   ⟹   ENSP00000427173
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,561,460 - 50,626,766 (+)Ensembl
RefSeq Acc Id: ENST00000510366   ⟹   ENSP00000426814
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,561,460 - 50,626,766 (+)Ensembl
RefSeq Acc Id: ENST00000511765   ⟹   ENSP00000427247
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,561,460 - 50,626,766 (+)Ensembl
RefSeq Acc Id: ENST00000511768   ⟹   ENSP00000424664
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,561,460 - 50,626,766 (+)Ensembl
RefSeq Acc Id: ENST00000512389   ⟹   ENSP00000426261
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,561,460 - 50,626,766 (+)Ensembl
RefSeq Acc Id: ENST00000513689   ⟹   ENSP00000426172
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,561,460 - 50,626,766 (+)Ensembl
RefSeq Acc Id: ENST00000513964   ⟹   ENSP00000425451
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,561,460 - 50,626,766 (+)Ensembl
RefSeq Acc Id: ENST00000514079   ⟹   ENSP00000423317
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,561,460 - 50,626,766 (+)Ensembl
RefSeq Acc Id: ENST00000514181   ⟹   ENSP00000425698
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,561,460 - 50,626,766 (+)Ensembl
RefSeq Acc Id: ENST00000514717   ⟹   ENSP00000422407
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,561,460 - 50,626,766 (+)Ensembl
RefSeq Acc Id: ENST00000515165   ⟹   ENSP00000426098
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,561,460 - 50,626,766 (+)Ensembl
RefSeq Acc Id: ENST00000515411   ⟹   ENSP00000423155
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,561,460 - 50,626,766 (+)Ensembl
RefSeq Acc Id: ENST00000515765   ⟹   ENSP00000426232
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,561,460 - 50,626,766 (+)Ensembl
RefSeq Acc Id: ENST00000570567   ⟹   ENSP00000459988
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,569,165 - 50,573,674 (+)Ensembl
RefSeq Acc Id: NM_001256324   ⟹   NP_001243253
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,560,715 - 50,627,474 (+)NCBI
GRCh371748,638,429 - 48,704,835 (+)NCBI
HuRef1744,006,381 - 44,072,836 (+)NCBI
CHM1_11748,702,306 - 48,768,826 (+)NCBI
T2T-CHM13v2.01751,427,851 - 51,494,639 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001256325   ⟹   NP_001243254
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,560,715 - 50,627,474 (+)NCBI
GRCh371748,638,429 - 48,704,835 (+)NCBI
HuRef1744,006,381 - 44,072,836 (+)NCBI
CHM1_11748,702,306 - 48,768,826 (+)NCBI
T2T-CHM13v2.01751,427,851 - 51,494,639 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001256326   ⟹   NP_001243255
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,560,715 - 50,627,474 (+)NCBI
GRCh371748,638,429 - 48,704,835 (+)NCBI
HuRef1744,006,381 - 44,072,836 (+)NCBI
CHM1_11748,702,306 - 48,768,826 (+)NCBI
T2T-CHM13v2.01751,427,851 - 51,494,639 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001256327   ⟹   NP_001243256
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,560,715 - 50,627,474 (+)NCBI
GRCh371748,638,429 - 48,704,835 (+)NCBI
HuRef1744,006,381 - 44,072,836 (+)NCBI
CHM1_11748,702,306 - 48,768,826 (+)NCBI
T2T-CHM13v2.01751,427,851 - 51,494,639 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001256328   ⟹   NP_001243257
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,560,715 - 50,627,474 (+)NCBI
GRCh371748,638,429 - 48,704,835 (+)NCBI
HuRef1744,006,381 - 44,072,836 (+)NCBI
CHM1_11748,702,306 - 48,768,826 (+)NCBI
T2T-CHM13v2.01751,427,851 - 51,494,639 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001256329   ⟹   NP_001243258
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,560,715 - 50,627,474 (+)NCBI
GRCh371748,638,429 - 48,704,835 (+)NCBI
HuRef1744,006,381 - 44,072,836 (+)NCBI
CHM1_11748,702,306 - 48,768,826 (+)NCBI
T2T-CHM13v2.01751,427,851 - 51,494,639 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001256330   ⟹   NP_001243259
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,560,715 - 50,627,474 (+)NCBI
GRCh371748,638,429 - 48,704,835 (+)NCBI
HuRef1744,006,381 - 44,072,836 (+)NCBI
CHM1_11748,702,306 - 48,768,826 (+)NCBI
T2T-CHM13v2.01751,427,851 - 51,494,639 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001256331   ⟹   NP_001243260
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,560,715 - 50,627,474 (+)NCBI
GRCh371748,638,429 - 48,704,835 (+)NCBI
HuRef1744,006,381 - 44,072,836 (+)NCBI
CHM1_11748,702,306 - 48,768,826 (+)NCBI
T2T-CHM13v2.01751,427,851 - 51,494,639 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001256332   ⟹   NP_001243261
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,560,715 - 50,627,474 (+)NCBI
GRCh371748,638,429 - 48,704,835 (+)NCBI
HuRef1744,006,381 - 44,072,836 (+)NCBI
CHM1_11748,702,306 - 48,768,826 (+)NCBI
T2T-CHM13v2.01751,427,851 - 51,494,639 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001256333   ⟹   NP_001243262
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,560,715 - 50,627,474 (+)NCBI
GRCh371748,638,429 - 48,704,835 (+)NCBI
HuRef1744,006,381 - 44,072,836 (+)NCBI
CHM1_11748,702,306 - 48,768,826 (+)NCBI
T2T-CHM13v2.01751,427,851 - 51,494,639 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001256334   ⟹   NP_001243263
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,560,715 - 50,627,474 (+)NCBI
GRCh371748,638,429 - 48,704,835 (+)NCBI
HuRef1744,006,381 - 44,072,836 (+)NCBI
CHM1_11748,702,306 - 48,768,826 (+)NCBI
T2T-CHM13v2.01751,427,851 - 51,494,639 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001256359   ⟹   NP_001243288
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,560,715 - 50,627,474 (+)NCBI
GRCh371748,638,429 - 48,704,835 (+)NCBI
HuRef1744,006,381 - 44,072,836 (+)NCBI
CHM1_11748,702,306 - 48,768,826 (+)NCBI
T2T-CHM13v2.01751,427,851 - 51,494,639 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001256360   ⟹   NP_001243289
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,560,715 - 50,627,474 (+)NCBI
GRCh371748,638,429 - 48,704,835 (+)NCBI
HuRef1744,006,381 - 44,072,836 (+)NCBI
CHM1_11748,702,306 - 48,768,826 (+)NCBI
T2T-CHM13v2.01751,427,851 - 51,494,639 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001256361   ⟹   NP_001243290
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,560,715 - 50,627,474 (+)NCBI
GRCh371748,638,429 - 48,704,835 (+)NCBI
HuRef1744,006,381 - 44,072,836 (+)NCBI
CHM1_11748,702,306 - 48,768,826 (+)NCBI
T2T-CHM13v2.01751,427,851 - 51,494,639 (+)NCBI
Sequence:
RefSeq Acc Id: NM_018896   ⟹   NP_061496
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,560,715 - 50,627,474 (+)NCBI
GRCh371748,638,429 - 48,704,835 (+)NCBI
Build 361745,993,448 - 46,059,430 (+)NCBI Archive
HuRef1744,006,381 - 44,072,836 (+)NCBI
CHM1_11748,702,306 - 48,768,826 (+)NCBI
T2T-CHM13v2.01751,427,851 - 51,494,639 (+)NCBI
Sequence:
RefSeq Acc Id: NM_198376   ⟹   NP_938190
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,560,715 - 50,627,474 (+)NCBI
GRCh371748,638,429 - 48,704,835 (+)NCBI
Build 361745,993,448 - 46,059,430 (+)NCBI Archive
HuRef1744,006,381 - 44,072,836 (+)NCBI
CHM1_11748,702,306 - 48,768,826 (+)NCBI
T2T-CHM13v2.01751,427,851 - 51,494,639 (+)NCBI
Sequence:
RefSeq Acc Id: NM_198377   ⟹   NP_938191
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,560,715 - 50,627,474 (+)NCBI
GRCh371748,638,429 - 48,704,835 (+)NCBI
Build 361745,993,448 - 46,059,430 (+)NCBI Archive
HuRef1744,006,381 - 44,072,836 (+)NCBI
CHM1_11748,702,306 - 48,768,826 (+)NCBI
T2T-CHM13v2.01751,427,851 - 51,494,639 (+)NCBI
Sequence:
RefSeq Acc Id: NM_198378   ⟹   NP_938192
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,560,715 - 50,627,474 (+)NCBI
GRCh371748,638,429 - 48,704,835 (+)NCBI
Build 361745,993,448 - 46,059,430 (+)NCBI Archive
HuRef1744,006,381 - 44,072,836 (+)NCBI
CHM1_11748,702,306 - 48,768,826 (+)NCBI
T2T-CHM13v2.01751,427,851 - 51,494,639 (+)NCBI
Sequence:
RefSeq Acc Id: NM_198379   ⟹   NP_938193
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,560,715 - 50,627,474 (+)NCBI
GRCh371748,638,429 - 48,704,835 (+)NCBI
Build 361745,993,448 - 46,059,430 (+)NCBI Archive
HuRef1744,006,381 - 44,072,836 (+)NCBI
CHM1_11748,702,306 - 48,768,826 (+)NCBI
T2T-CHM13v2.01751,427,851 - 51,494,639 (+)NCBI
Sequence:
RefSeq Acc Id: NM_198380   ⟹   NP_938194
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,560,715 - 50,627,474 (+)NCBI
GRCh371748,638,429 - 48,704,835 (+)NCBI
Build 361745,993,448 - 46,059,430 (+)NCBI Archive
HuRef1744,006,381 - 44,072,836 (+)NCBI
CHM1_11748,702,306 - 48,768,826 (+)NCBI
T2T-CHM13v2.01751,427,851 - 51,494,639 (+)NCBI
Sequence:
RefSeq Acc Id: NM_198382   ⟹   NP_938196
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,560,715 - 50,627,474 (+)NCBI
GRCh371748,638,429 - 48,704,835 (+)NCBI
Build 361745,993,448 - 46,059,430 (+)NCBI Archive
HuRef1744,006,381 - 44,072,836 (+)NCBI
CHM1_11748,702,306 - 48,768,826 (+)NCBI
T2T-CHM13v2.01751,427,851 - 51,494,639 (+)NCBI
Sequence:
RefSeq Acc Id: NM_198383   ⟹   NP_938197
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,560,715 - 50,627,474 (+)NCBI
GRCh371748,638,429 - 48,704,835 (+)NCBI
Build 361745,993,448 - 46,059,430 (+)NCBI Archive
HuRef1744,006,381 - 44,072,836 (+)NCBI
CHM1_11748,702,306 - 48,768,826 (+)NCBI
T2T-CHM13v2.01751,427,851 - 51,494,639 (+)NCBI
Sequence:
RefSeq Acc Id: NM_198384   ⟹   NP_938198
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,560,715 - 50,627,474 (+)NCBI
GRCh371748,638,429 - 48,704,835 (+)NCBI
Build 361745,993,448 - 46,059,430 (+)NCBI Archive
HuRef1744,006,381 - 44,072,836 (+)NCBI
CHM1_11748,702,306 - 48,768,826 (+)NCBI
T2T-CHM13v2.01751,427,851 - 51,494,639 (+)NCBI
Sequence:
RefSeq Acc Id: NM_198385   ⟹   NP_938199
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,560,715 - 50,627,474 (+)NCBI
GRCh371748,638,429 - 48,704,835 (+)NCBI
Build 361745,993,448 - 46,059,430 (+)NCBI Archive
HuRef1744,006,381 - 44,072,836 (+)NCBI
CHM1_11748,702,306 - 48,768,826 (+)NCBI
T2T-CHM13v2.01751,427,851 - 51,494,639 (+)NCBI
Sequence:
RefSeq Acc Id: NM_198386   ⟹   NP_938200
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,560,715 - 50,627,474 (+)NCBI
GRCh371748,638,429 - 48,704,835 (+)NCBI
Build 361745,993,448 - 46,059,430 (+)NCBI Archive
HuRef1744,006,381 - 44,072,836 (+)NCBI
CHM1_11748,702,306 - 48,768,826 (+)NCBI
T2T-CHM13v2.01751,427,851 - 51,494,639 (+)NCBI
Sequence:
RefSeq Acc Id: NM_198387   ⟹   NP_938201
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,560,715 - 50,627,474 (+)NCBI
GRCh371748,638,429 - 48,704,835 (+)NCBI
Build 361745,993,448 - 46,059,430 (+)NCBI Archive
HuRef1744,006,381 - 44,072,836 (+)NCBI
CHM1_11748,702,306 - 48,768,826 (+)NCBI
T2T-CHM13v2.01751,427,851 - 51,494,639 (+)NCBI
Sequence:
RefSeq Acc Id: NM_198388   ⟹   NP_938202
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,560,715 - 50,627,474 (+)NCBI
GRCh371748,638,429 - 48,704,835 (+)NCBI
Build 361745,993,448 - 46,059,430 (+)NCBI Archive
HuRef1744,006,381 - 44,072,836 (+)NCBI
CHM1_11748,702,306 - 48,768,826 (+)NCBI
T2T-CHM13v2.01751,427,851 - 51,494,639 (+)NCBI
Sequence:
RefSeq Acc Id: NM_198396   ⟹   NP_938406
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,560,715 - 50,627,474 (+)NCBI
GRCh371748,638,429 - 48,704,835 (+)NCBI
Build 361745,993,448 - 46,059,541 (+)NCBI Archive
HuRef1744,006,381 - 44,072,836 (+)NCBI
CHM1_11748,702,306 - 48,768,826 (+)NCBI
T2T-CHM13v2.01751,427,851 - 51,494,639 (+)NCBI
Sequence:
RefSeq Acc Id: NR_046054
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,560,715 - 50,627,474 (+)NCBI
GRCh371748,638,429 - 48,704,835 (+)NCBI
HuRef1744,006,381 - 44,072,836 (+)NCBI
CHM1_11748,702,306 - 48,768,826 (+)NCBI
T2T-CHM13v2.01751,427,851 - 51,494,639 (+)NCBI
Sequence:
RefSeq Acc Id: NR_046055
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,560,715 - 50,627,474 (+)NCBI
GRCh371748,638,429 - 48,704,835 (+)NCBI
HuRef1744,006,381 - 44,072,836 (+)NCBI
CHM1_11748,702,306 - 48,768,826 (+)NCBI
T2T-CHM13v2.01751,427,851 - 51,494,639 (+)NCBI
Sequence:
RefSeq Acc Id: NR_046056
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,560,715 - 50,627,474 (+)NCBI
GRCh371748,638,429 - 48,704,835 (+)NCBI
HuRef1744,006,381 - 44,072,836 (+)NCBI
CHM1_11748,702,306 - 48,768,826 (+)NCBI
T2T-CHM13v2.01751,427,851 - 51,494,639 (+)NCBI
Sequence:
RefSeq Acc Id: NR_046057
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,560,715 - 50,627,474 (+)NCBI
GRCh371748,638,429 - 48,704,835 (+)NCBI
HuRef1744,006,381 - 44,072,836 (+)NCBI
CHM1_11748,702,306 - 48,768,826 (+)NCBI
T2T-CHM13v2.01751,427,851 - 51,494,639 (+)NCBI
Sequence:
RefSeq Acc Id: NR_046058
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,560,715 - 50,627,474 (+)NCBI
GRCh371748,638,429 - 48,704,835 (+)NCBI
HuRef1744,006,381 - 44,072,836 (+)NCBI
CHM1_11748,702,306 - 48,768,826 (+)NCBI
T2T-CHM13v2.01751,427,851 - 51,494,639 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006722160   ⟹   XP_006722223
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,560,715 - 50,627,474 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006722161   ⟹   XP_006722224
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,560,715 - 50,627,474 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054317681   ⟹   XP_054173656
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01751,427,851 - 51,494,639 (+)NCBI
RefSeq Acc Id: XM_054317682   ⟹   XP_054173657
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01751,427,851 - 51,494,639 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001243253 (Get FASTA)   NCBI Sequence Viewer  
  NP_001243254 (Get FASTA)   NCBI Sequence Viewer  
  NP_001243255 (Get FASTA)   NCBI Sequence Viewer  
  NP_001243256 (Get FASTA)   NCBI Sequence Viewer  
  NP_001243257 (Get FASTA)   NCBI Sequence Viewer  
  NP_001243258 (Get FASTA)   NCBI Sequence Viewer  
  NP_001243259 (Get FASTA)   NCBI Sequence Viewer  
  NP_001243260 (Get FASTA)   NCBI Sequence Viewer  
  NP_001243261 (Get FASTA)   NCBI Sequence Viewer  
  NP_001243262 (Get FASTA)   NCBI Sequence Viewer  
  NP_001243263 (Get FASTA)   NCBI Sequence Viewer  
  NP_001243288 (Get FASTA)   NCBI Sequence Viewer  
  NP_001243289 (Get FASTA)   NCBI Sequence Viewer  
  NP_001243290 (Get FASTA)   NCBI Sequence Viewer  
  NP_061496 (Get FASTA)   NCBI Sequence Viewer  
  NP_938190 (Get FASTA)   NCBI Sequence Viewer  
  NP_938191 (Get FASTA)   NCBI Sequence Viewer  
  NP_938192 (Get FASTA)   NCBI Sequence Viewer  
  NP_938193 (Get FASTA)   NCBI Sequence Viewer  
  NP_938194 (Get FASTA)   NCBI Sequence Viewer  
  NP_938196 (Get FASTA)   NCBI Sequence Viewer  
  NP_938197 (Get FASTA)   NCBI Sequence Viewer  
  NP_938198 (Get FASTA)   NCBI Sequence Viewer  
  NP_938199 (Get FASTA)   NCBI Sequence Viewer  
  NP_938200 (Get FASTA)   NCBI Sequence Viewer  
  NP_938201 (Get FASTA)   NCBI Sequence Viewer  
  NP_938202 (Get FASTA)   NCBI Sequence Viewer  
  NP_938406 (Get FASTA)   NCBI Sequence Viewer  
  XP_006722223 (Get FASTA)   NCBI Sequence Viewer  
  XP_006722224 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173656 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173657 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD12731 (Get FASTA)   NCBI Sequence Viewer  
  AAD12732 (Get FASTA)   NCBI Sequence Viewer  
  AAD29400 (Get FASTA)   NCBI Sequence Viewer  
  AAD29401 (Get FASTA)   NCBI Sequence Viewer  
  AAD34352 (Get FASTA)   NCBI Sequence Viewer  
  AAF19346 (Get FASTA)   NCBI Sequence Viewer  
  AAF19347 (Get FASTA)   NCBI Sequence Viewer  
  AAF35287 (Get FASTA)   NCBI Sequence Viewer  
  AAF37689 (Get FASTA)   NCBI Sequence Viewer  
  AAF37690 (Get FASTA)   NCBI Sequence Viewer  
  AAF37691 (Get FASTA)   NCBI Sequence Viewer  
  AAF37692 (Get FASTA)   NCBI Sequence Viewer  
  AAF37693 (Get FASTA)   NCBI Sequence Viewer  
  AAF37694 (Get FASTA)   NCBI Sequence Viewer  
  AAF37695 (Get FASTA)   NCBI Sequence Viewer  
  AAF37696 (Get FASTA)   NCBI Sequence Viewer  
  AAI10996 (Get FASTA)   NCBI Sequence Viewer  
  ABF69900 (Get FASTA)   NCBI Sequence Viewer  
  ABF69901 (Get FASTA)   NCBI Sequence Viewer  
  ABF69902 (Get FASTA)   NCBI Sequence Viewer  
  ABF69903 (Get FASTA)   NCBI Sequence Viewer  
  ABF69904 (Get FASTA)   NCBI Sequence Viewer  
  ABF69905 (Get FASTA)   NCBI Sequence Viewer  
  ABF69906 (Get FASTA)   NCBI Sequence Viewer  
  ABF69907 (Get FASTA)   NCBI Sequence Viewer  
  ABF69908 (Get FASTA)   NCBI Sequence Viewer  
  ABF69909 (Get FASTA)   NCBI Sequence Viewer  
  ABF69910 (Get FASTA)   NCBI Sequence Viewer  
  ABF69911 (Get FASTA)   NCBI Sequence Viewer  
  ABF69912 (Get FASTA)   NCBI Sequence Viewer  
  ABF69913 (Get FASTA)   NCBI Sequence Viewer  
  ABF69914 (Get FASTA)   NCBI Sequence Viewer  
  ABF69915 (Get FASTA)   NCBI Sequence Viewer  
  ABF69916 (Get FASTA)   NCBI Sequence Viewer  
  ABF69917 (Get FASTA)   NCBI Sequence Viewer  
  ABF69918 (Get FASTA)   NCBI Sequence Viewer  
  ABF69919 (Get FASTA)   NCBI Sequence Viewer  
  ABF69920 (Get FASTA)   NCBI Sequence Viewer  
  ABF69921 (Get FASTA)   NCBI Sequence Viewer  
  ABF69922 (Get FASTA)   NCBI Sequence Viewer  
  ABF69923 (Get FASTA)   NCBI Sequence Viewer  
  ABF69924 (Get FASTA)   NCBI Sequence Viewer  
  ABF69925 (Get FASTA)   NCBI Sequence Viewer  
  ABF69926 (Get FASTA)   NCBI Sequence Viewer  
  ABF69927 (Get FASTA)   NCBI Sequence Viewer  
  ABF69928 (Get FASTA)   NCBI Sequence Viewer  
  ABF69929 (Get FASTA)   NCBI Sequence Viewer  
  ABF69930 (Get FASTA)   NCBI Sequence Viewer  
  AHW56633 (Get FASTA)   NCBI Sequence Viewer  
  AHW56703 (Get FASTA)   NCBI Sequence Viewer  
  BAA36409 (Get FASTA)   NCBI Sequence Viewer  
  BAA86437 (Get FASTA)   NCBI Sequence Viewer  
  BAG59145 (Get FASTA)   NCBI Sequence Viewer  
  CAR95114 (Get FASTA)   NCBI Sequence Viewer  
  CAR95115 (Get FASTA)   NCBI Sequence Viewer  
  CAR95116 (Get FASTA)   NCBI Sequence Viewer  
  CAR95117 (Get FASTA)   NCBI Sequence Viewer  
  CAR95118 (Get FASTA)   NCBI Sequence Viewer  
  CAR95119 (Get FASTA)   NCBI Sequence Viewer  
  CAR95120 (Get FASTA)   NCBI Sequence Viewer  
  CAR95121 (Get FASTA)   NCBI Sequence Viewer  
  CAR95122 (Get FASTA)   NCBI Sequence Viewer  
  CAR95123 (Get FASTA)   NCBI Sequence Viewer  
  CAR95124 (Get FASTA)   NCBI Sequence Viewer  
  CAR95125 (Get FASTA)   NCBI Sequence Viewer  
  CAR95126 (Get FASTA)   NCBI Sequence Viewer  
  CAR95127 (Get FASTA)   NCBI Sequence Viewer  
  CAR95128 (Get FASTA)   NCBI Sequence Viewer  
  EAW94596 (Get FASTA)   NCBI Sequence Viewer  
  EAW94597 (Get FASTA)   NCBI Sequence Viewer  
  EAW94598 (Get FASTA)   NCBI Sequence Viewer  
  EAW94599 (Get FASTA)   NCBI Sequence Viewer  
  EAW94600 (Get FASTA)   NCBI Sequence Viewer  
  EAW94601 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000339302
  ENSP00000339302.5
  ENSP00000347078
  ENSP00000347078.4
  ENSP00000350979
  ENSP00000350979.5
  ENSP00000352011
  ENSP00000352011.5
  ENSP00000353990
  ENSP00000353990.4
  ENSP00000392390.4
  ENSP00000409759
  ENSP00000409759.2
  ENSP00000414388
  ENSP00000414388.2
  ENSP00000420918
  ENSP00000420918.1
  ENSP00000421518
  ENSP00000421518.1
  ENSP00000422268
  ENSP00000422268.1
  ENSP00000422407
  ENSP00000422407.1
  ENSP00000423045
  ENSP00000423045.1
  ENSP00000423112
  ENSP00000423112.2
  ENSP00000423155
  ENSP00000423155.1
  ENSP00000423317
  ENSP00000423317.1
  ENSP00000424664.1
  ENSP00000425153.1
  ENSP00000425451
  ENSP00000425451.1
  ENSP00000425522
  ENSP00000425522.1
  ENSP00000425698
  ENSP00000425698.1
  ENSP00000426098
  ENSP00000426098.1
  ENSP00000426172
  ENSP00000426172.2
  ENSP00000426232
  ENSP00000426232.1
  ENSP00000426261
  ENSP00000426261.1
  ENSP00000426313.1
  ENSP00000426558.1
  ENSP00000426814
  ENSP00000426814.1
  ENSP00000427173
  ENSP00000427173.1
  ENSP00000427231.1
  ENSP00000427238
  ENSP00000427238.1
  ENSP00000427247.1
  ENSP00000427697.1
  ENSP00000459988.1
GenBank Protein O43497 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_938406   ⟸   NM_198396
- Peptide Label: isoform 3
- UniProtKB: O43497 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_938194   ⟸   NM_198380
- Peptide Label: isoform 5
- UniProtKB: O43497 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_938192   ⟸   NM_198378
- Peptide Label: isoform 9
- UniProtKB: O43497 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_061496   ⟸   NM_018896
- Peptide Label: isoform 1
- UniProtKB: Q9Y5T2 (UniProtKB/Swiss-Prot),   Q9UNG7 (UniProtKB/Swiss-Prot),   Q9ULU6 (UniProtKB/Swiss-Prot),   Q9UHP0 (UniProtKB/Swiss-Prot),   Q9UHN9 (UniProtKB/Swiss-Prot),   Q9NYV1 (UniProtKB/Swiss-Prot),   Q9NYV0 (UniProtKB/Swiss-Prot),   Q9NYU9 (UniProtKB/Swiss-Prot),   Q9NYU8 (UniProtKB/Swiss-Prot),   Q9NYU7 (UniProtKB/Swiss-Prot),   Q9NYU6 (UniProtKB/Swiss-Prot),   Q9NYU5 (UniProtKB/Swiss-Prot),   Q9NYU4 (UniProtKB/Swiss-Prot),   Q2TAC4 (UniProtKB/Swiss-Prot),   Q19R18 (UniProtKB/Swiss-Prot),   Q19R17 (UniProtKB/Swiss-Prot),   Q19R16 (UniProtKB/Swiss-Prot),   Q19R15 (UniProtKB/Swiss-Prot),   Q19R13 (UniProtKB/Swiss-Prot),   Q19R12 (UniProtKB/Swiss-Prot),   Q19R11 (UniProtKB/Swiss-Prot),   Q19R10 (UniProtKB/Swiss-Prot),   Q19R09 (UniProtKB/Swiss-Prot),   Q19R08 (UniProtKB/Swiss-Prot),   Q19R07 (UniProtKB/Swiss-Prot),   Q19R06 (UniProtKB/Swiss-Prot),   Q19R05 (UniProtKB/Swiss-Prot),   Q19R04 (UniProtKB/Swiss-Prot),   Q19R03 (UniProtKB/Swiss-Prot),   Q19R02 (UniProtKB/Swiss-Prot),   Q19R01 (UniProtKB/Swiss-Prot),   Q19R00 (UniProtKB/Swiss-Prot),   Q19QZ9 (UniProtKB/Swiss-Prot),   Q19QZ8 (UniProtKB/Swiss-Prot),   Q19QZ7 (UniProtKB/Swiss-Prot),   Q19QZ6 (UniProtKB/Swiss-Prot),   Q19QZ5 (UniProtKB/Swiss-Prot),   Q19QZ4 (UniProtKB/Swiss-Prot),   Q19QZ3 (UniProtKB/Swiss-Prot),   Q19QZ2 (UniProtKB/Swiss-Prot),   Q19QZ1 (UniProtKB/Swiss-Prot),   Q19QZ0 (UniProtKB/Swiss-Prot),   Q19QY9 (UniProtKB/Swiss-Prot),   Q19QY8 (UniProtKB/Swiss-Prot),   O94770 (UniProtKB/Swiss-Prot),   O43498 (UniProtKB/Swiss-Prot),   E7EPR0 (UniProtKB/Swiss-Prot),   D6RA64 (UniProtKB/Swiss-Prot),   Q9Y5T3 (UniProtKB/Swiss-Prot),   O43497 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_938199   ⟸   NM_198385
- Peptide Label: isoform 4
- UniProtKB: O43497 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_938198   ⟸   NM_198384
- Peptide Label: isoform 8
- UniProtKB: O43497 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_938200   ⟸   NM_198386
- Peptide Label: isoform 10
- UniProtKB: O43497 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_938193   ⟸   NM_198379
- Peptide Label: isoform 7
- UniProtKB: O43497 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_938201   ⟸   NM_198387
- Peptide Label: isoform 12
- UniProtKB: O43497 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_938190   ⟸   NM_198376
- Peptide Label: isoform 14
- UniProtKB: O43497 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_938191   ⟸   NM_198377
- Peptide Label: isoform 2
- UniProtKB: O43497 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_938197   ⟸   NM_198383
- Peptide Label: isoform 6
- UniProtKB: O43497 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_938196   ⟸   NM_198382
- Peptide Label: isoform 11
- UniProtKB: O43497 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_938202   ⟸   NM_198388
- Peptide Label: isoform 13
- UniProtKB: O43497 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001243290   ⟸   NM_001256361
- Peptide Label: isoform 29
- UniProtKB: O43497 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001243288   ⟸   NM_001256359
- Peptide Label: isoform 27
- UniProtKB: O43497 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001243254   ⟸   NM_001256325
- Peptide Label: isoform 17
- UniProtKB: O43497 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001243263   ⟸   NM_001256334
- Peptide Label: isoform 26
- UniProtKB: O43497 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001243262   ⟸   NM_001256333
- Peptide Label: isoform 25
- UniProtKB: O43497 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001243256   ⟸   NM_001256327
- Peptide Label: isoform 19
- UniProtKB: O43497 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001243253   ⟸   NM_001256324
- Peptide Label: isoform 16
- UniProtKB: O43497 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001243257   ⟸   NM_001256328
- Peptide Label: isoform 20
- UniProtKB: O43497 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001243255   ⟸   NM_001256326
- Peptide Label: isoform 18
- UniProtKB: O43497 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001243259   ⟸   NM_001256330
- Peptide Label: isoform 22
- UniProtKB: O43497 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001243289   ⟸   NM_001256360
- Peptide Label: isoform 28
- UniProtKB: O43497 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001243258   ⟸   NM_001256329
- Peptide Label: isoform 21
- UniProtKB: O43497 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001243260   ⟸   NM_001256331
- Peptide Label: isoform 23
- UniProtKB: O43497 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001243261   ⟸   NM_001256332
- Peptide Label: isoform 24
- UniProtKB: O43497 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006722223   ⟸   XM_006722160
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_006722224   ⟸   XM_006722161
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000352011   ⟸   ENST00000359106
RefSeq Acc Id: ENSP00000425522   ⟸   ENST00000502264
RefSeq Acc Id: ENSP00000427231   ⟸   ENST00000503436
RefSeq Acc Id: ENSP00000427238   ⟸   ENST00000503485
RefSeq Acc Id: ENSP00000426558   ⟸   ENST00000503607
RefSeq Acc Id: ENSP00000425153   ⟸   ENST00000504076
RefSeq Acc Id: ENSP00000422268   ⟸   ENST00000505165
RefSeq Acc Id: ENSP00000459988   ⟸   ENST00000570567
RefSeq Acc Id: ENSP00000427697   ⟸   ENST00000506520
RefSeq Acc Id: ENSP00000426313   ⟸   ENST00000506406
RefSeq Acc Id: ENSP00000353990   ⟸   ENST00000360761
RefSeq Acc Id: ENSP00000423112   ⟸   ENST00000507510
RefSeq Acc Id: ENSP00000420918   ⟸   ENST00000507336
RefSeq Acc Id: ENSP00000421518   ⟸   ENST00000507896
RefSeq Acc Id: ENSP00000423045   ⟸   ENST00000507609
RefSeq Acc Id: ENSP00000414388   ⟸   ENST00000429973
RefSeq Acc Id: ENSP00000392390   ⟸   ENST00000416767
RefSeq Acc Id: ENSP00000409759   ⟸   ENST00000442258
RefSeq Acc Id: ENSP00000339302   ⟸   ENST00000352832
RefSeq Acc Id: ENSP00000427173   ⟸   ENST00000510115
RefSeq Acc Id: ENSP00000426814   ⟸   ENST00000510366
RefSeq Acc Id: ENSP00000427247   ⟸   ENST00000511765
RefSeq Acc Id: ENSP00000424664   ⟸   ENST00000511768
RefSeq Acc Id: ENSP00000347078   ⟸   ENST00000354983
RefSeq Acc Id: ENSP00000426261   ⟸   ENST00000512389
RefSeq Acc Id: ENSP00000425451   ⟸   ENST00000513964
RefSeq Acc Id: ENSP00000426172   ⟸   ENST00000513689
RefSeq Acc Id: ENSP00000423317   ⟸   ENST00000514079
RefSeq Acc Id: ENSP00000425698   ⟸   ENST00000514181
RefSeq Acc Id: ENSP00000422407   ⟸   ENST00000514717
RefSeq Acc Id: ENSP00000350979   ⟸   ENST00000358244
RefSeq Acc Id: ENSP00000423155   ⟸   ENST00000515411
RefSeq Acc Id: ENSP00000426098   ⟸   ENST00000515165
RefSeq Acc Id: ENSP00000426232   ⟸   ENST00000515765
RefSeq Acc Id: XP_054173656   ⟸   XM_054317681
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054173657   ⟸   XM_054317682
- Peptide Label: isoform X2
Protein Domains
Ion transport

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O43497-F1-model_v2 AlphaFold O43497 1-2377 view protein structure

Promoters
RGD ID:6793846
Promoter ID:HG_KWN:26589
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour
Transcripts:ENST00000352832,   ENST00000354424,   ENST00000354983,   ENST00000358244,   ENST00000359106,   ENST00000360761,   NM_198376,   NM_198396,   NM_198397,   UC002IRK.1,   UC002IRL.1,   UC002IRM.1,   UC002IRN.1,   UC002IRO.1,   UC002IRP.1,   UC002IRQ.1,   UC002IRR.1,   UC002IRS.1,   UC002IRT.1,   UC002IRV.1,   UC002IRW.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361745,992,756 - 45,993,256 (+)MPROMDB
RGD ID:7235663
Promoter ID:EPDNEW_H23577
Type:initiation region
Name:CACNA1G_1
Description:calcium voltage-gated channel subunit alpha1 G
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23578  EPDNEW_H23579  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,561,016 - 50,561,076EPDNEW
RGD ID:7235665
Promoter ID:EPDNEW_H23578
Type:initiation region
Name:CACNA1G_3
Description:calcium voltage-gated channel subunit alpha1 G
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23577  EPDNEW_H23579  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,561,126 - 50,561,186EPDNEW
RGD ID:7235667
Promoter ID:EPDNEW_H23579
Type:initiation region
Name:CACNA1G_2
Description:calcium voltage-gated channel subunit alpha1 G
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23577  EPDNEW_H23578  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,561,539 - 50,561,599EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1394 AgrOrtholog
COSMIC CACNA1G COSMIC
Ensembl Genes ENSG00000006283 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000352832 ENTREZGENE
  ENST00000352832.9 UniProtKB/Swiss-Prot
  ENST00000354983 ENTREZGENE
  ENST00000354983.8 UniProtKB/Swiss-Prot
  ENST00000358244 ENTREZGENE
  ENST00000358244.9 UniProtKB/Swiss-Prot
  ENST00000359106 ENTREZGENE
  ENST00000359106.10 UniProtKB/Swiss-Prot
  ENST00000360761 ENTREZGENE
  ENST00000360761.8 UniProtKB/Swiss-Prot
  ENST00000416767.8 UniProtKB/TrEMBL
  ENST00000429973 ENTREZGENE
  ENST00000429973.6 UniProtKB/Swiss-Prot
  ENST00000442258 ENTREZGENE
  ENST00000442258.6 UniProtKB/Swiss-Prot
  ENST00000502264 ENTREZGENE
  ENST00000502264.5 UniProtKB/Swiss-Prot
  ENST00000503436 ENTREZGENE
  ENST00000503436.5 UniProtKB/Swiss-Prot
  ENST00000503485 ENTREZGENE
  ENST00000503485.5 UniProtKB/Swiss-Prot
  ENST00000503607 ENTREZGENE
  ENST00000503607.5 UniProtKB/Swiss-Prot
  ENST00000504076 ENTREZGENE
  ENST00000504076.5 UniProtKB/Swiss-Prot
  ENST00000505165 ENTREZGENE
  ENST00000505165.5 UniProtKB/Swiss-Prot
  ENST00000506406 ENTREZGENE
  ENST00000506406.5 UniProtKB/Swiss-Prot
  ENST00000506520.1 UniProtKB/TrEMBL
  ENST00000507336 ENTREZGENE
  ENST00000507336.5 UniProtKB/Swiss-Prot
  ENST00000507510 ENTREZGENE
  ENST00000507510.6 UniProtKB/Swiss-Prot
  ENST00000507609 ENTREZGENE
  ENST00000507609.5 UniProtKB/Swiss-Prot
  ENST00000507896 ENTREZGENE
  ENST00000507896.5 UniProtKB/Swiss-Prot
  ENST00000510115 ENTREZGENE
  ENST00000510115.5 UniProtKB/Swiss-Prot
  ENST00000510366 ENTREZGENE
  ENST00000510366.5 UniProtKB/Swiss-Prot
  ENST00000511765 ENTREZGENE
  ENST00000511765.5 UniProtKB/Swiss-Prot
  ENST00000511768.5 UniProtKB/Swiss-Prot
  ENST00000512389 ENTREZGENE
  ENST00000512389.5 UniProtKB/Swiss-Prot
  ENST00000513689 ENTREZGENE
  ENST00000513689.6 UniProtKB/Swiss-Prot
  ENST00000513964 ENTREZGENE
  ENST00000513964.5 UniProtKB/Swiss-Prot
  ENST00000514079 ENTREZGENE
  ENST00000514079.5 UniProtKB/Swiss-Prot
  ENST00000514181 ENTREZGENE
  ENST00000514181.5 UniProtKB/Swiss-Prot
  ENST00000514717 ENTREZGENE
  ENST00000514717.5 UniProtKB/Swiss-Prot
  ENST00000515165 ENTREZGENE
  ENST00000515165.5 UniProtKB/Swiss-Prot
  ENST00000515411 ENTREZGENE
  ENST00000515411.5 UniProtKB/Swiss-Prot
  ENST00000515765 ENTREZGENE
  ENST00000515765.5 UniProtKB/Swiss-Prot
  ENST00000570567.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.287.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.20.120.350 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000006283 GTEx
HGNC ID HGNC:1394 ENTREZGENE
Human Proteome Map CACNA1G Human Proteome Map
InterPro Ion_trans_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VDCC_T_a1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VDCCAlpha1 UniProtKB/Swiss-Prot
  VGCC_Ca_Na UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Volt_channel_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8913 UniProtKB/Swiss-Prot
NCBI Gene 8913 ENTREZGENE
OMIM 604065 OMIM
PANTHER PTHR10037 UniProtKB/TrEMBL
  PTHR10037:SF137 UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
  VOLTAGE-GATED CATION CHANNEL CALCIUM AND SODIUM UniProtKB/Swiss-Prot
Pfam Ion_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB CACNA1G RGD, PharmGKB
PRINTS CACHANNEL UniProtKB/Swiss-Prot
  TVDCCALPHA1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Voltage-gated potassium channels UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0B4J1X2_HUMAN UniProtKB/TrEMBL
  CAC1G_HUMAN UniProtKB/Swiss-Prot
  D6RA64 ENTREZGENE
  E7EPR0 ENTREZGENE
  H0YAN0_HUMAN UniProtKB/TrEMBL
  I3L2W8_HUMAN UniProtKB/TrEMBL
  O43497 ENTREZGENE
  O43498 ENTREZGENE
  O94770 ENTREZGENE
  Q19QY8 ENTREZGENE
  Q19QY9 ENTREZGENE
  Q19QZ0 ENTREZGENE
  Q19QZ1 ENTREZGENE
  Q19QZ2 ENTREZGENE
  Q19QZ3 ENTREZGENE
  Q19QZ4 ENTREZGENE
  Q19QZ5 ENTREZGENE
  Q19QZ6 ENTREZGENE
  Q19QZ7 ENTREZGENE
  Q19QZ8 ENTREZGENE
  Q19QZ9 ENTREZGENE
  Q19R00 ENTREZGENE
  Q19R01 ENTREZGENE
  Q19R02 ENTREZGENE
  Q19R03 ENTREZGENE
  Q19R04 ENTREZGENE
  Q19R05 ENTREZGENE
  Q19R06 ENTREZGENE
  Q19R07 ENTREZGENE
  Q19R08 ENTREZGENE
  Q19R09 ENTREZGENE
  Q19R10 ENTREZGENE
  Q19R11 ENTREZGENE
  Q19R12 ENTREZGENE
  Q19R13 ENTREZGENE
  Q19R15 ENTREZGENE
  Q19R16 ENTREZGENE
  Q19R17 ENTREZGENE
  Q19R18 ENTREZGENE
  Q2TAC4 ENTREZGENE
  Q9NYU4 ENTREZGENE
  Q9NYU5 ENTREZGENE
  Q9NYU6 ENTREZGENE
  Q9NYU7 ENTREZGENE
  Q9NYU8 ENTREZGENE
  Q9NYU9 ENTREZGENE
  Q9NYV0 ENTREZGENE
  Q9NYV1 ENTREZGENE
  Q9UHN9 ENTREZGENE
  Q9UHP0 ENTREZGENE
  Q9ULU6 ENTREZGENE
  Q9UNG7 ENTREZGENE
  Q9Y5T2 ENTREZGENE
  Q9Y5T3 ENTREZGENE
  X5D9G8_HUMAN UniProtKB/TrEMBL
  X5D9M1_HUMAN UniProtKB/TrEMBL
UniProt Secondary D6RA64 UniProtKB/Swiss-Prot
  E7EPR0 UniProtKB/Swiss-Prot
  O43498 UniProtKB/Swiss-Prot
  O94770 UniProtKB/Swiss-Prot
  Q19QY8 UniProtKB/Swiss-Prot
  Q19QY9 UniProtKB/Swiss-Prot
  Q19QZ0 UniProtKB/Swiss-Prot
  Q19QZ1 UniProtKB/Swiss-Prot
  Q19QZ2 UniProtKB/Swiss-Prot
  Q19QZ3 UniProtKB/Swiss-Prot
  Q19QZ4 UniProtKB/Swiss-Prot
  Q19QZ5 UniProtKB/Swiss-Prot
  Q19QZ6 UniProtKB/Swiss-Prot
  Q19QZ7 UniProtKB/Swiss-Prot
  Q19QZ8 UniProtKB/Swiss-Prot
  Q19QZ9 UniProtKB/Swiss-Prot
  Q19R00 UniProtKB/Swiss-Prot
  Q19R01 UniProtKB/Swiss-Prot
  Q19R02 UniProtKB/Swiss-Prot
  Q19R03 UniProtKB/Swiss-Prot
  Q19R04 UniProtKB/Swiss-Prot
  Q19R05 UniProtKB/Swiss-Prot
  Q19R06 UniProtKB/Swiss-Prot
  Q19R07 UniProtKB/Swiss-Prot
  Q19R08 UniProtKB/Swiss-Prot
  Q19R09 UniProtKB/Swiss-Prot
  Q19R10 UniProtKB/Swiss-Prot
  Q19R11 UniProtKB/Swiss-Prot
  Q19R12 UniProtKB/Swiss-Prot
  Q19R13 UniProtKB/Swiss-Prot
  Q19R15 UniProtKB/Swiss-Prot
  Q19R16 UniProtKB/Swiss-Prot
  Q19R17 UniProtKB/Swiss-Prot
  Q19R18 UniProtKB/Swiss-Prot
  Q2TAC4 UniProtKB/Swiss-Prot
  Q9NYU4 UniProtKB/Swiss-Prot
  Q9NYU5 UniProtKB/Swiss-Prot
  Q9NYU6 UniProtKB/Swiss-Prot
  Q9NYU7 UniProtKB/Swiss-Prot
  Q9NYU8 UniProtKB/Swiss-Prot
  Q9NYU9 UniProtKB/Swiss-Prot
  Q9NYV0 UniProtKB/Swiss-Prot
  Q9NYV1 UniProtKB/Swiss-Prot
  Q9UHN9 UniProtKB/Swiss-Prot
  Q9UHP0 UniProtKB/Swiss-Prot
  Q9ULU6 UniProtKB/Swiss-Prot
  Q9UNG7 UniProtKB/Swiss-Prot
  Q9Y5T2 UniProtKB/Swiss-Prot
  Q9Y5T3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 CACNA1G  calcium voltage-gated channel subunit alpha1 G  CACNA1G  calcium channel, voltage-dependent, T type, alpha 1G subunit  Symbol and/or name change 5135510 APPROVED