CACNA1B (calcium voltage-gated channel subunit alpha1 B) - Rat Genome Database

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Gene: CACNA1B (calcium voltage-gated channel subunit alpha1 B) Homo sapiens
Analyze
Symbol: CACNA1B
Name: calcium voltage-gated channel subunit alpha1 B
RGD ID: 1347795
HGNC Page HGNC:1389
Description: Enables high voltage-gated calcium channel activity. Involved in modulation of chemical synaptic transmission and response to amyloid-beta. Predicted to be located in dendrite. Predicted to be part of voltage-gated calcium channel complex. Predicted to be active in several cellular components, including Schaffer collateral - CA1 synapse; glutamatergic synapse; and presynaptic active zone. Implicated in Lambert-Eaton myasthenic syndrome. Biomarker of brain edema and multiple sclerosis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BIII; brain calcium channel III; CACNL1A5; CACNN; calcium channel alpha12.2 subunit; calcium channel, L type, alpha-1 polypeptide; calcium channel, N type; calcium channel, voltage-dependent, alpha 1B subunit, N type; calcium channel, voltage-dependent, L type, alpha 1B subunit; calcium channel, voltage-dependent, N type, alpha 1B subunit; Cav2.2; Cav2.2 voltage-gated Ca2+ channel; DYT23; NEDNEH; voltage-dependent N-type calcium channel subunit alpha-1B; voltage-gated calcium channel alpha subunit Cav2.2; voltage-gated calcium channel subunit alpha Cav2.2
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
GRCh389137,877,782 - 138,124,619 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9137,877,782 - 138,124,624 (+)EnsemblGRCh38hg38GRCh38
GRCh379140,772,234 - 141,019,071 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369139,892,062 - 140,136,449 (+)NCBINCBI36Build 36hg18NCBI36
Build 349138,048,077 - 138,292,468NCBI
Cytogenetic Map9q34.3NCBI
HuRef9110,240,583 - 110,486,666 (+)NCBIHuRef
CHM1_19140,920,972 - 141,166,813 (+)NCBICHM1_1
T2T-CHM13v2.09150,142,926 - 150,389,904 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal corpus callosum morphology  (IAGP)
Abnormal involuntary eye movements  (IAGP)
Abnormal myelination  (IAGP)
Abnormality of coordination  (IAGP)
Abnormality of vision  (IAGP)
Absent speech  (IAGP)
Anteverted nares  (IAGP)
Ataxia  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Atypical behavior  (IAGP)
Autism  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Brain atrophy  (IAGP)
Bruxism  (IAGP)
Cerebral atrophy  (IAGP)
Cerebral visual impairment  (IAGP)
Childhood onset  (IAGP)
Choreoathetosis  (IAGP)
Conductive hearing impairment  (IAGP)
Decreased fetal movement  (IAGP)
Delayed speech and language development  (IAGP)
Developmental regression  (IAGP)
Difficulty walking  (IAGP)
Downslanted palpebral fissures  (IAGP)
Dyskinesia  (IAGP)
Dystonia  (IAGP)
EEG with multifocal slow activity  (IAGP)
Encephalopathy  (IAGP)
Epileptic encephalopathy  (IAGP)
Epileptic spasm  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
High forehead  (IAGP)
Hyperkinetic movements  (IAGP)
Hypodontia  (IAGP)
Hyporeflexia  (IAGP)
Hypotonia  (IAGP)
Hypsarrhythmia  (IAGP)
Impulsivity  (IAGP)
Inability to walk  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Involuntary movements  (IAGP)
Limb hypertonia  (IAGP)
Mental deterioration  (IAGP)
Microcephaly  (IAGP)
Myoclonic seizure  (IAGP)
Myoclonus  (IAGP)
Nystagmus  (IAGP)
Optic atrophy  (IAGP)
Poor head control  (IAGP)
Ptosis  (IAGP)
Recurrent respiratory infections  (IAGP)
Reduced tendon reflexes  (IAGP)
Retinal degeneration  (IAGP)
Rigidity  (IAGP)
Secondary microcephaly  (IAGP)
Seizure  (IAGP)
Short stature  (IAGP)
Spasticity  (IAGP)
Status epilepticus  (IAGP)
Stereotypical hand wringing  (IAGP)
Strabismus  (IAGP)
Talipes  (IAGP)
Tonic seizure  (IAGP)
Tremor  (IAGP)
Unsteady gait  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Differential role of N-type calcium channel splice isoforms in pain. Altier C, etal., J Neurosci. 2007 Jun 13;27(24):6363-73.
2. Voltage-gated calcium channels. Catterall WA Cold Spring Harb Perspect Biol. 2011 Aug 1;3(8):a003947. doi: 10.1101/cshperspect.a003947.
3. Human neuronal changes in brain edema and increased intracranial pressure. Faragó N, etal., Acta Neuropathol Commun. 2016 Aug 4;4(1):78. doi: 10.1186/s40478-016-0356-x.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. Distribution of a calcium channel subunit in dystrophic axons in multiple sclerosis and experimental autoimmune encephalomyelitis. Kornek B, etal., Brain. 2001 Jun;124(Pt 6):1114-24.
6. Phoneutria nigriventer omega-Phonetoxin IIA: a new tool for anti-calcium channel autoantibody assays in Lambert-Eaton myasthenic syndrome. Martin-Moutot N, etal., Neurobiol Dis. 2006 Apr;22(1):57-63. Epub 2005 Nov 11.
7. Ablation of the N-type calcium channel ameliorates diabetic nephropathy with improved glycemic control and reduced blood pressure. Ohno S, etal., Sci Rep. 2016 Jun 7;6:27192. doi: 10.1038/srep27192.
8. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
9. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
10. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
11. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
12. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1321501   PMID:8684604   PMID:8750830   PMID:8825650   PMID:9030575   PMID:9238069   PMID:10455105   PMID:11130074   PMID:11395521   PMID:11438518   PMID:12018859   PMID:12161429  
PMID:12177192   PMID:12414690   PMID:12435810   PMID:12477932   PMID:12665800   PMID:14602720   PMID:14684825   PMID:15166237   PMID:15607937   PMID:15728831   PMID:15953418   PMID:16382099  
PMID:16627564   PMID:16857708   PMID:17081983   PMID:18958281   PMID:19065143   PMID:20195357   PMID:20379614   PMID:20489179   PMID:21057379   PMID:21166801   PMID:21873635   PMID:22491326  
PMID:22590648   PMID:22613715   PMID:23376566   PMID:24566975   PMID:25225550   PMID:25296916   PMID:25483588   PMID:26157024   PMID:26218636   PMID:26507659   PMID:26511252   PMID:26514267  
PMID:28127114   PMID:28330839   PMID:28603497   PMID:29208674   PMID:29448101   PMID:30982612   PMID:31343991   PMID:33051750   PMID:33100116   PMID:33360835   PMID:34234349   PMID:34731621  
PMID:35777045   PMID:36137995   PMID:36724073  


Genomics

Comparative Map Data
CACNA1B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389137,877,782 - 138,124,619 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9137,877,782 - 138,124,624 (+)EnsemblGRCh38hg38GRCh38
GRCh379140,772,234 - 141,019,071 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369139,892,062 - 140,136,449 (+)NCBINCBI36Build 36hg18NCBI36
Build 349138,048,077 - 138,292,468NCBI
Cytogenetic Map9q34.3NCBI
HuRef9110,240,583 - 110,486,666 (+)NCBIHuRef
CHM1_19140,920,972 - 141,166,813 (+)NCBICHM1_1
T2T-CHM13v2.09150,142,926 - 150,389,904 (+)NCBIT2T-CHM13v2.0
Cacna1b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39224,493,872 - 24,653,210 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl224,493,899 - 24,653,164 (-)EnsemblGRCm39 Ensembl
GRCm38224,603,860 - 24,763,200 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl224,603,887 - 24,763,152 (-)EnsemblGRCm38mm10GRCm38
MGSCv37224,461,895 - 24,618,672 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36224,428,384 - 24,585,161 (-)NCBIMGSCv36mm8
Celera224,325,634 - 24,485,472 (-)NCBICelera
Cytogenetic Map2A3NCBI
cM Map216.58NCBI
Cacna1b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8327,779,133 - 27,944,292 (-)NCBIGRCr8
mRatBN7.237,380,892 - 7,546,104 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl37,380,922 - 7,546,091 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx310,484,372 - 10,649,772 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0319,070,601 - 19,236,001 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0317,260,424 - 17,425,831 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.031,740,026 - 1,924,959 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl31,740,024 - 1,924,827 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.031,727,915 - 1,910,475 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.432,842,948 - 3,039,747 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.132,873,390 - 3,039,747 (-)NCBI
Celera32,215,805 - 2,379,072 (-)NCBICelera
Cytogenetic Map3p13NCBI
Cacna1b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555135,654,238 - 5,824,386 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555135,654,915 - 5,823,094 (+)NCBIChiLan1.0ChiLan1.0
CACNA1B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2111,216,085 - 1,470,033 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan191,218,419 - 1,472,359 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v09108,989,621 - 109,256,841 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.19137,935,165 - 138,147,969 (+)NCBIpanpan1.1PanPan1.1panPan2
CACNA1B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1947,813,625 - 48,009,532 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl947,816,393 - 48,009,406 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha947,000,692 - 47,196,388 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0948,674,418 - 48,870,501 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1947,454,379 - 47,647,489 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0947,750,936 - 47,946,938 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0947,799,821 - 47,993,105 (-)NCBIUU_Cfam_GSD_1.0
Cacna1b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947203,066,422 - 203,243,631 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936669133,698 - 308,488 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936669133,488 - 308,623 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CACNA1B
(Sus scrofa - pig)		 No map positions available.
CACNA1B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11275,441 - 335,980 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1278,011 - 335,820 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660585,057,291 - 5,305,921 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cacna1b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476081,236 - 257,787 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476078,754 - 257,901 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CACNA1B
1356 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000718.4(CACNA1B):c.3862G>A (p.Val1288Ile) single nucleotide variant Dystonia 23 [RCV001331361] Chr9:138053900 [GRCh38]
Chr9:140948352 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6238G>A (p.Ala2080Thr) single nucleotide variant Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV001331362]|not provided [RCV002546467] Chr9:138120372 [GRCh38]
Chr9:141014824 [GRCh37]
Chr9:9q34.3		 uncertain significance
GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1 copy number loss See cases [RCV000050344] Chr9:136323974..138014606 [GRCh38]
Chr9:139218428..140909058 [GRCh37]
Chr9:138338249..140028879 [NCBI36]
Chr9:9q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q34.3(chr9:138041609-138100328)x3 copy number gain See cases [RCV000051031] Chr9:138041609..138100328 [GRCh38]
Chr9:140936061..140994780 [GRCh37]
Chr9:140055882..140114601 [NCBI36]
Chr9:9q34.3		 uncertain significance
GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3 copy number gain See cases [RCV000051040] Chr9:122792658..138124532 [GRCh38]
Chr9:125554937..141018984 [GRCh37]
Chr9:124594758..140138805 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9q34.3(chr9:136323974-138124532)x1 copy number loss See cases [RCV000051116] Chr9:136323974..138124532 [GRCh38]
Chr9:139218428..141018984 [GRCh37]
Chr9:138338249..140138805 [NCBI36]
Chr9:9q34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3 copy number gain See cases [RCV000051009] Chr9:121112395..138075224 [GRCh38]
Chr9:123874673..140969676 [GRCh37]
Chr9:122914494..140089497 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1 copy number loss See cases [RCV000052936] Chr9:134428674..138154922 [GRCh38]
Chr9:137320520..141049374 [GRCh37]
Chr9:136460341..140169195 [NCBI36]
Chr9:9q34.2-34.3		 pathogenic
GRCh38/hg38 9q34.3(chr9:137484248-138179445)x1 copy number loss See cases [RCV000052952] Chr9:137484248..138179445 [GRCh38]
Chr9:140378700..141073897 [GRCh37]
Chr9:139498521..140193718 [NCBI36]
Chr9:9q34.3		 pathogenic
GRCh38/hg38 9q34.3(chr9:137514943-138121473)x1 copy number loss See cases [RCV000052953] Chr9:137514943..138121473 [GRCh38]
Chr9:140409395..141015925 [GRCh37]
Chr9:139529216..140135746 [NCBI36]
Chr9:9q34.3		 pathogenic
GRCh38/hg38 9q34.3(chr9:137574369-138041809)x1 copy number loss See cases [RCV000052954] Chr9:137574369..138041809 [GRCh38]
Chr9:140468821..140936261 [GRCh37]
Chr9:139588642..140056082 [NCBI36]
Chr9:9q34.3		 pathogenic
GRCh38/hg38 9q34.3(chr9:137598355-138091769)x1 copy number loss See cases [RCV000052955] Chr9:137598355..138091769 [GRCh38]
Chr9:140492807..140986221 [GRCh37]
Chr9:139612628..140106042 [NCBI36]
Chr9:9q34.3		 pathogenic
GRCh38/hg38 9q34.3(chr9:137620211-137958459)x1 copy number loss See cases [RCV000052956] Chr9:137620211..137958459 [GRCh38]
Chr9:140514663..140852911 [GRCh37]
Chr9:139634484..139972732 [NCBI36]
Chr9:9q34.3		 pathogenic
GRCh38/hg38 9q34.3(chr9:136015976-138124532)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052938]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052938]|See cases [RCV000052938] Chr9:136015976..138124532 [GRCh38]
Chr9:138907822..141018984 [GRCh37]
Chr9:138047643..140138805 [NCBI36]
Chr9:9q34.3		 pathogenic
GRCh38/hg38 9q34.3(chr9:136926575-138114463)x1 copy number loss See cases [RCV000052940] Chr9:136926575..138114463 [GRCh38]
Chr9:139821027..141008915 [GRCh37]
Chr9:138940848..140128736 [NCBI36]
Chr9:9q34.3		 pathogenic
GRCh38/hg38 9q34.3(chr9:137215877-138138735)x1 copy number loss See cases [RCV000052941] Chr9:137215877..138138735 [GRCh38]
Chr9:140110329..141033187 [GRCh37]
Chr9:139230150..140153008 [NCBI36]
Chr9:9q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3 copy number gain See cases [RCV000053814] Chr9:134174698..138138735 [GRCh38]
Chr9:137091194..141033187 [GRCh37]
Chr9:136029641..140153008 [NCBI36]
Chr9:9q34.2-34.3		 pathogenic
GRCh38/hg38 9q34.3(chr9:137640712-137892491)x3 copy number gain See cases [RCV000053815] Chr9:137640712..137892491 [GRCh38]
Chr9:140535164..140786943 [GRCh37]
Chr9:139654985..139906764 [NCBI36]
Chr9:9q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121586837-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|See cases [RCV000053776] Chr9:121586837..138179445 [GRCh38]
Chr9:124349116..141073897 [GRCh37]
Chr9:123388937..140193718 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
NM_000718.3(CACNA1B):c.4480G>A (p.Asp1494Asn) single nucleotide variant Malignant melanoma [RCV000068601] Chr9:138059085 [GRCh38]
Chr9:140953537 [GRCh37]
Chr9:140073358 [NCBI36]
Chr9:9q34.3		 not provided
NM_000718.3(CACNA1B):c.4566C>T (p.Ile1522=) single nucleotide variant Malignant melanoma [RCV000068602] Chr9:138059171 [GRCh38]
Chr9:140953623 [GRCh37]
Chr9:140073444 [NCBI36]
Chr9:9q34.3		 not provided
NM_000718.4(CACNA1B):c.3422G>A (p.Arg1141His) single nucleotide variant not provided [RCV003104365] Chr9:138046912 [GRCh38]
Chr9:140941364 [GRCh37]
Chr9:9q34.3		 uncertain significance
GRCh38/hg38 9q34.3(chr9:137862611-138059695)x3 copy number gain See cases [RCV000133653] Chr9:137862611..138059695 [GRCh38]
Chr9:140757063..140954147 [GRCh37]
Chr9:139876884..140073968 [NCBI36]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.*80C>T single nucleotide variant Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV001554435]|not provided [RCV001694109] Chr9:138122079 [GRCh38]
Chr9:141016531 [GRCh37]
Chr9:9q34.3		 benign
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3 copy number gain See cases [RCV000133778] Chr9:130513207..138124532 [GRCh38]
Chr9:133388594..141018984 [GRCh37]
Chr9:132378415..140138805 [NCBI36]
Chr9:9q34.11-34.3		 pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3 copy number gain See cases [RCV000134916] Chr9:129068560..138179445 [GRCh38]
Chr9:131830839..141073897 [GRCh37]
Chr9:130870660..140193718 [NCBI36]
Chr9:9q34.11-34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3 copy number gain See cases [RCV000134920] Chr9:121073102..138179445 [GRCh38]
Chr9:123835380..141073897 [GRCh37]
Chr9:122875201..140193718 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9q34.3(chr9:137391682-138114463)x3 copy number gain See cases [RCV000136863] Chr9:137391682..138114463 [GRCh38]
Chr9:140286134..141008915 [GRCh37]
Chr9:139405955..140128736 [NCBI36]
Chr9:9q34.3		 pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3 copy number gain See cases [RCV000136790] Chr9:132986903..138114463 [GRCh38]
Chr9:135862290..141008915 [GRCh37]
Chr9:134852111..140128736 [NCBI36]
Chr9:9q34.13-34.3		 pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3 copy number gain See cases [RCV000137825] Chr9:133504071..138159073 [GRCh38]
Chr9:136324358..141053525 [GRCh37]
Chr9:135314179..140173346 [NCBI36]
Chr9:9q34.2-34.3		 pathogenic
GRCh38/hg38 9q34.3(chr9:137513120-138159073)x1 copy number loss See cases [RCV000137748] Chr9:137513120..138159073 [GRCh38]
Chr9:140407572..141053525 [GRCh37]
Chr9:139527393..140173346 [NCBI36]
Chr9:9q34.3		 uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q34.3(chr9:137830545-138124532)x3 copy number gain See cases [RCV000138243] Chr9:137830545..138124532 [GRCh38]
Chr9:140724997..141018984 [GRCh37]
Chr9:139844818..140138805 [NCBI36]
Chr9:9q34.3		 uncertain significance
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9q34.3(chr9:137810632-138104468)x3 copy number gain See cases [RCV000140439] Chr9:137810632..138104468 [GRCh38]
Chr9:140705084..140998920 [GRCh37]
Chr9:139824905..140118741 [NCBI36]
Chr9:9q34.3		 likely benign|uncertain significance
GRCh38/hg38 9q34.2-34.3(chr9:133996227-138124524)x3 copy number gain See cases [RCV000139807] Chr9:133996227..138124524 [GRCh38]
Chr9:136861349..141018976 [GRCh37]
Chr9:135851170..140138797 [NCBI36]
Chr9:9q34.2-34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:133918071-138159073)x3 copy number gain See cases [RCV000142955] Chr9:133918071..138159073 [GRCh38]
Chr9:136783193..141053525 [GRCh37]
Chr9:135773014..140173346 [NCBI36]
Chr9:9q34.2-34.3		 pathogenic
GRCh38/hg38 9q34.3(chr9:136877772-138124524)x1 copy number loss See cases [RCV000142978] Chr9:136877772..138124524 [GRCh38]
Chr9:139772224..141018976 [GRCh37]
Chr9:138892045..140138797 [NCBI36]
Chr9:9q34.3		 pathogenic
GRCh38/hg38 9q34.3(chr9:137763015-137902180)x3 copy number gain See cases [RCV000142761] Chr9:137763015..137902180 [GRCh38]
Chr9:140657467..140796632 [GRCh37]
Chr9:139777288..139916453 [NCBI36]
Chr9:9q34.3		 uncertain significance
GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3 copy number gain See cases [RCV000142636] Chr9:132386553..138059695 [GRCh38]
Chr9:135261940..140954147 [GRCh37]
Chr9:134251761..140073968 [NCBI36]
Chr9:9q34.13-34.3		 pathogenic
GRCh38/hg38 9q34.3(chr9:135704780-138125937)x4 copy number gain See cases [RCV000143394] Chr9:135704780..138125937 [GRCh38]
Chr9:138596626..141020389 [GRCh37]
Chr9:137736447..140140210 [NCBI36]
Chr9:9q34.3		 likely pathogenic
GRCh38/hg38 9q34.3(chr9:137345965-138159083)x1 copy number loss See cases [RCV000143327] Chr9:137345965..138159083 [GRCh38]
Chr9:140240417..141053535 [GRCh37]
Chr9:139360238..140173356 [NCBI36]
Chr9:9q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1 copy number loss See cases [RCV000148284] Chr9:136323974..138014606 [GRCh38]
Chr9:139218428..140909058 [GRCh37]
Chr9:138338249..140028879 [NCBI36]
Chr9:9q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_000718.4(CACNA1B):c.4166G>A (p.Arg1389His) single nucleotide variant Dystonia 23 [RCV000169631]|not provided [RCV002517629] Chr9:138058108 [GRCh38]
Chr9:140952560 [GRCh37]
Chr9:9q34.3		 pathogenic|uncertain significance|not provided
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q34.3(chr9:140712794-141018984)x3 copy number gain See cases [RCV000240012] Chr9:140712794..141018984 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4548G>A (p.Met1516Ile) single nucleotide variant not provided [RCV000488043] Chr9:138059153 [GRCh38]
Chr9:140953605 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5233A>G (p.Ser1745Gly) single nucleotide variant Dystonia 23 [RCV000625897] Chr9:138102721 [GRCh38]
Chr9:140997173 [GRCh37]
Chr9:9q34.3		 uncertain significance
GRCh37/hg19 9q34.3(chr9:140862504-140994780)x3 copy number gain not provided [RCV000415787] Chr9:140862504..140994780 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.30C>T (p.Gly10=) single nucleotide variant not provided [RCV000415880] Chr9:137877963 [GRCh38]
Chr9:140772415 [GRCh37]
Chr9:9q34.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 9q34.3(chr9:140866826-140928675)x1 copy number loss not provided [RCV000753261] Chr9:140866826..140928675 [GRCh37]
Chr9:9q34.3		 benign
GRCh37/hg19 9q34.3(chr9:140620020-140854178)x1 copy number loss See cases [RCV000449333] Chr9:140620020..140854178 [GRCh37]
Chr9:9q34.3		 pathogenic
GRCh37/hg19 9q34.3(chr9:140309120-141018925)x1 copy number loss See cases [RCV000449201] Chr9:140309120..141018925 [GRCh37]
Chr9:9q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q34.3(chr9:140859506-141020389)x3 copy number gain See cases [RCV000447272] Chr9:140859506..141020389 [GRCh37]
Chr9:9q34.3		 uncertain significance
GRCh37/hg19 9q34.3(chr9:140444759-140878805)x1 copy number loss See cases [RCV000446849] Chr9:140444759..140878805 [GRCh37]
Chr9:9q34.3		 pathogenic
GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3 copy number gain See cases [RCV000447080] Chr9:128652785..141044751 [GRCh37]
Chr9:9q33.3-34.3		 pathogenic
GRCh37/hg19 9q34.3(chr9:138222049-141018925)x1 copy number loss See cases [RCV000446074] Chr9:138222049..141018925 [GRCh37]
Chr9:9q34.3		 pathogenic
GRCh37/hg19 9q34.3(chr9:140043049-141020389)x1 copy number loss See cases [RCV000446191] Chr9:140043049..141020389 [GRCh37]
Chr9:9q34.3		 pathogenic
NM_000718.4(CACNA1B):c.6237C>T (p.Gly2079=) single nucleotide variant not provided [RCV000423736] Chr9:138120371 [GRCh38]
Chr9:141014823 [GRCh37]
Chr9:9q34.3		 uncertain significance
GRCh37/hg19 9q34.3(chr9:139282807-141020389)x1 copy number loss See cases [RCV000448743] Chr9:139282807..141020389 [GRCh37]
Chr9:9q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3 copy number gain See cases [RCV000448784] Chr9:124642754..141146461 [GRCh37]
Chr9:9q33.2-34.3		 pathogenic
GRCh37/hg19 9q34.3(chr9:138209358-141020389)x1 copy number loss See cases [RCV000510584] Chr9:138209358..141020389 [GRCh37]
Chr9:9q34.3		 pathogenic
GRCh37/hg19 9q34.3(chr9:138275621-141020389)x3 copy number gain See cases [RCV000511188] Chr9:138275621..141020389 [GRCh37]
Chr9:9q34.3		 likely pathogenic
GRCh37/hg19 9q34.3(chr9:140716758-141020389)x3 copy number gain See cases [RCV000511299] Chr9:140716758..141020389 [GRCh37]
Chr9:9q34.3		 uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3		 likely pathogenic
NM_000718.4(CACNA1B):c.5237A>G (p.Tyr1746Cys) single nucleotide variant Inborn genetic diseases [RCV003293079] Chr9:138102725 [GRCh38]
Chr9:140997177 [GRCh37]
Chr9:9q34.3		 uncertain significance
GRCh37/hg19 9q34.13-34.3(chr9:135377559-141213431)x1 copy number loss mTOR Inhibitor response [RCV000626442] Chr9:135377559..141213431 [GRCh37]
Chr9:9q34.13-34.3		 drug response
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_000718.4(CACNA1B):c.175T>C (p.Tyr59His) single nucleotide variant not provided [RCV000678357] Chr9:137878108 [GRCh38]
Chr9:140772560 [GRCh37]
Chr9:9q34.3		 uncertain significance
GRCh37/hg19 9q34.3(chr9:140366594-141020389)x1 copy number loss not provided [RCV000683137] Chr9:140366594..141020389 [GRCh37]
Chr9:9q34.3		 pathogenic
GRCh37/hg19 9q34.3(chr9:140706816-141020389)x3 copy number gain not provided [RCV000683111] Chr9:140706816..141020389 [GRCh37]
Chr9:9q34.3		 uncertain significance
GRCh37/hg19 9q34.3(chr9:140447917-141020389)x1 copy number loss not provided [RCV000683132] Chr9:140447917..141020389 [GRCh37]
Chr9:9q34.3		 pathogenic
GRCh37/hg19 9q34.3(chr9:140787390-141020389)x3 copy number gain not provided [RCV000683101] Chr9:140787390..141020389 [GRCh37]
Chr9:9q34.3		 uncertain significance
GRCh37/hg19 9q34.3(chr9:140688612-140781524)x1 copy number loss not provided [RCV000683071] Chr9:140688612..140781524 [GRCh37]
Chr9:9q34.3		 likely pathogenic
GRCh37/hg19 9q34.13-34.3(chr9:135105971-141020389)x3 copy number gain not provided [RCV000683160] Chr9:135105971..141020389 [GRCh37]
Chr9:9q34.13-34.3		 pathogenic
GRCh37/hg19 9q34.3(chr9:140912517-140928675)x1 copy number loss not provided [RCV000753263] Chr9:140912517..140928675 [GRCh37]
Chr9:9q34.3		 benign
GRCh37/hg19 9q34.3(chr9:140866689-140915980)x0 copy number loss not provided [RCV000753260] Chr9:140866689..140915980 [GRCh37]
Chr9:9q34.3		 benign
GRCh37/hg19 9q34.3(chr9:140912517-140913833)x0 copy number loss not provided [RCV000753262] Chr9:140912517..140913833 [GRCh37]
Chr9:9q34.3		 benign
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q34.3(chr9:140961469-141066491)x3 copy number gain not provided [RCV000753264] Chr9:140961469..141066491 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.4848C>T (p.Ile1616=) single nucleotide variant CACNA1B-related condition [RCV003892682]|not provided [RCV000954955]|not specified [RCV000736115] Chr9:138074057 [GRCh38]
Chr9:140968509 [GRCh37]
Chr9:9q34.3		 benign|likely benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q34.3(chr9:137816459-141114095)x1 copy number loss not provided [RCV000748787] Chr9:137816459..141114095 [GRCh37]
Chr9:9q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_000718.4(CACNA1B):c.3604-19G>T single nucleotide variant not provided [RCV001678659] Chr9:138049190 [GRCh38]
Chr9:140943642 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.391-42G>C single nucleotide variant not provided [RCV001611396] Chr9:137882702 [GRCh38]
Chr9:140777154 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.5649+73C>T single nucleotide variant not provided [RCV001707458] Chr9:138114563 [GRCh38]
Chr9:141009015 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.2298G>C (p.Ser766=) single nucleotide variant not provided [RCV000919031] Chr9:138023041 [GRCh38]
Chr9:140917493 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6831T>G (p.Thr2277=) single nucleotide variant Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV001554434]|not provided [RCV001658289] Chr9:138121810 [GRCh38]
Chr9:141016262 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.*300C>T single nucleotide variant not provided [RCV001681489] Chr9:138122299 [GRCh38]
Chr9:141016751 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.3808-189C>A single nucleotide variant not provided [RCV001648177] Chr9:138053657 [GRCh38]
Chr9:140948109 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.5094+177G>A single nucleotide variant not provided [RCV001692591] Chr9:138078435 [GRCh38]
Chr9:140972887 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.2268-195_2268-194dup duplication not provided [RCV001666320] Chr9:138022805..138022806 [GRCh38]
Chr9:140917257..140917258 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.1769+201C>T single nucleotide variant not provided [RCV001644427] Chr9:137984451 [GRCh38]
Chr9:140878903 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.3604-292C>A single nucleotide variant not provided [RCV001648832] Chr9:138048917 [GRCh38]
Chr9:140943369 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.276C>A (p.Thr92=) single nucleotide variant not provided [RCV000943369] Chr9:137878209 [GRCh38]
Chr9:140772661 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1054C>T (p.Leu352=) single nucleotide variant not provided [RCV000965127] Chr9:137952361 [GRCh38]
Chr9:140846813 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.385C>A (p.Arg129=) single nucleotide variant not provided [RCV000929206] Chr9:137879154 [GRCh38]
Chr9:140773606 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2709G>C (p.Arg903=) single nucleotide variant not provided [RCV000951106] Chr9:138023452 [GRCh38]
Chr9:140917904 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.381C>A (p.Ser127=) single nucleotide variant not provided [RCV000899226] Chr9:137879150 [GRCh38]
Chr9:140773602 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2093-4C>A single nucleotide variant Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV000988320]|not provided [RCV000949956] Chr9:138010006 [GRCh38]
Chr9:140904458 [GRCh37]
Chr9:9q34.3		 benign|likely benign
NM_000718.4(CACNA1B):c.2986A>G (p.Thr996Ala) single nucleotide variant not provided [RCV000949957] Chr9:138023729 [GRCh38]
Chr9:140918181 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.5031C>T (p.Thr1677=) single nucleotide variant not provided [RCV000903294] Chr9:138078195 [GRCh38]
Chr9:140972647 [GRCh37]
Chr9:9q34.3		 benign|likely benign
NM_000718.4(CACNA1B):c.7010A>G (p.His2337Arg) single nucleotide variant not provided [RCV000966215] Chr9:138121989 [GRCh38]
Chr9:141016441 [GRCh37]
Chr9:9q34.3		 benign|likely benign
NM_000718.4(CACNA1B):c.4020G>A (p.Gln1340=) single nucleotide variant not provided [RCV000970210] Chr9:138057783 [GRCh38]
Chr9:140952235 [GRCh37]
Chr9:9q34.3		 benign|likely benign
NM_000718.4(CACNA1B):c.1551A>G (p.Ala517=) single nucleotide variant not provided [RCV000925675] Chr9:137975914 [GRCh38]
Chr9:140870366 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6033C>T (p.Pro2011=) single nucleotide variant not provided [RCV000943192] Chr9:138120167 [GRCh38]
Chr9:141014619 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4959G>A (p.Thr1653=) single nucleotide variant not provided [RCV000905204] Chr9:138078123 [GRCh38]
Chr9:140972575 [GRCh37]
Chr9:9q34.3		 benign|likely benign
NM_000718.4(CACNA1B):c.1953C>T (p.Ala651=) single nucleotide variant not provided [RCV000966213] Chr9:137986833 [GRCh38]
Chr9:140881285 [GRCh37]
Chr9:9q34.3		 benign|likely benign
NM_000718.4(CACNA1B):c.4719G>A (p.Ala1573=) single nucleotide variant not provided [RCV000937246] Chr9:138073532 [GRCh38]
Chr9:140967984 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6889G>A (p.Val2297Met) single nucleotide variant CACNA1B-related condition [RCV003940442]|not provided [RCV000882013] Chr9:138121868 [GRCh38]
Chr9:141016320 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2235C>T (p.Ser745=) single nucleotide variant not provided [RCV000944066] Chr9:138013203 [GRCh38]
Chr9:140907655 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3279C>G (p.Val1093=) single nucleotide variant not provided [RCV000983484] Chr9:138025165 [GRCh38]
Chr9:140919617 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2925G>C (p.Pro975=) single nucleotide variant not provided [RCV000951285] Chr9:138023668 [GRCh38]
Chr9:140918120 [GRCh37]
Chr9:9q34.3		 benign|likely benign
NM_000718.4(CACNA1B):c.1147C>T (p.Arg383Ter) single nucleotide variant Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV000787347] Chr9:137955774 [GRCh38]
Chr9:140850226 [GRCh37]
Chr9:9q34.3		 pathogenic
NM_000718.4(CACNA1B):c.6095C>G (p.Thr2032Ser) single nucleotide variant CACNA1B-related condition [RCV003975698]|Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV003145230]|not provided [RCV000898255] Chr9:138120229 [GRCh38]
Chr9:141014681 [GRCh37]
Chr9:9q34.3		 likely benign|uncertain significance
NM_000718.4(CACNA1B):c.570A>G (p.Thr190=) single nucleotide variant not provided [RCV000883726] Chr9:137913219 [GRCh38]
Chr9:140807671 [GRCh37]
Chr9:9q34.3		 benign|likely benign
NM_000718.4(CACNA1B):c.9C>T (p.Arg3=) single nucleotide variant not provided [RCV000932869] Chr9:137877942 [GRCh38]
Chr9:140772394 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.967-8G>A single nucleotide variant Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV001262719]|not provided [RCV000954954] Chr9:137952266 [GRCh38]
Chr9:140846718 [GRCh37]
Chr9:9q34.3		 benign|likely benign|uncertain significance
NM_000718.4(CACNA1B):c.4950-10T>G single nucleotide variant not provided [RCV000925438] Chr9:138078104 [GRCh38]
Chr9:140972556 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3279C>T (p.Val1093=) single nucleotide variant CACNA1B-related condition [RCV003910613]|Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV002479017]|not provided [RCV000892244] Chr9:138025165 [GRCh38]
Chr9:140919617 [GRCh37]
Chr9:9q34.3		 benign|likely benign
NM_000718.4(CACNA1B):c.2718C>G (p.Arg906=) single nucleotide variant not provided [RCV000918580] Chr9:138023461 [GRCh38]
Chr9:140917913 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4044C>T (p.Tyr1348=) single nucleotide variant not provided [RCV000931521] Chr9:138057807 [GRCh38]
Chr9:140952259 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.375C>A (p.Pro125=) single nucleotide variant not provided [RCV000939397] Chr9:137879144 [GRCh38]
Chr9:140773596 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5649+9C>A single nucleotide variant Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV002505458]|not provided [RCV000966214] Chr9:138114499 [GRCh38]
Chr9:141008951 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.2751G>T (p.Arg917=) single nucleotide variant not provided [RCV000909167] Chr9:138023494 [GRCh38]
Chr9:140917946 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6552C>T (p.Arg2184=) single nucleotide variant not provided [RCV000900498] Chr9:138121531 [GRCh38]
Chr9:141015983 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1186+8C>T single nucleotide variant not provided [RCV000903293] Chr9:137955821 [GRCh38]
Chr9:140850273 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.372G>T (p.Thr124=) single nucleotide variant not provided [RCV000922171] Chr9:137879141 [GRCh38]
Chr9:140773593 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.390+1_390+2insACGACACGGAGCCCTATTTCATCGGGA insertion not provided [RCV000919220] Chr9:137879160..137879161 [GRCh38]
Chr9:140773612..140773613 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1187-101del deletion not provided [RCV002284614] Chr9:137956654 [GRCh38]
Chr9:140851106 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3852C>T (p.Asn1284=) single nucleotide variant not provided [RCV003312753] Chr9:138053890 [GRCh38]
Chr9:140948342 [GRCh37]
Chr9:9q34.3		 likely benign
GRCh37/hg19 9q34.3(chr9:140401671-141020389)x1 copy number loss not provided [RCV001006281] Chr9:140401671..141020389 [GRCh37]
Chr9:9q34.3		 pathogenic
NM_000718.4(CACNA1B):c.831C>T (p.Cys277=) single nucleotide variant not provided [RCV000959703] Chr9:137917296 [GRCh38]
Chr9:140811748 [GRCh37]
Chr9:9q34.3		 benign|likely benign
NM_000718.4(CACNA1B):c.3665del (p.Leu1222fs) deletion Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV000787344] Chr9:138049270 [GRCh38]
Chr9:140943722 [GRCh37]
Chr9:9q34.3		 pathogenic
NC_000009.12:g.137604238_138131469dup duplication 9q34 microduplication syndrome [RCV000851534] Chr9:137604238..138131469 [GRCh38]
Chr9:140498690..141025921 [GRCh37]
Chr9:9q34.3		 pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3		 pathogenic
NM_000718.4(CACNA1B):c.2986_3000del (p.Thr996_Glu1000del) deletion Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV000988321]|not provided [RCV001720270] Chr9:138023719..138023733 [GRCh38]
Chr9:140918171..140918185 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.4953C>A (p.Ser1651Arg) single nucleotide variant Dystonia 23 [RCV000791100] Chr9:138078117 [GRCh38]
Chr9:140972569 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3573_3574del (p.Gly1192fs) deletion Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV000787345] Chr9:138047428..138047429 [GRCh38]
Chr9:140941880..140941881 [GRCh37]
Chr9:9q34.3		 pathogenic
NM_000718.4(CACNA1B):c.4857+1G>C single nucleotide variant Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV000787346] Chr9:138074067 [GRCh38]
Chr9:140968519 [GRCh37]
Chr9:9q34.3		 pathogenic
NM_000718.4(CACNA1B):c.3441G>T (p.Val1147=) single nucleotide variant not provided [RCV000915688] Chr9:138046931 [GRCh38]
Chr9:140941383 [GRCh37]
Chr9:9q34.3		 benign|likely benign
NM_000718.4(CACNA1B):c.5370C>T (p.His1790=) single nucleotide variant not provided [RCV000898086] Chr9:138105749 [GRCh38]
Chr9:141000201 [GRCh37]
Chr9:9q34.3		 benign
GRCh37/hg19 9q34.3(chr9:140603912-141020389)x1 copy number loss not provided [RCV000846092] Chr9:140603912..141020389 [GRCh37]
Chr9:9q34.3		 pathogenic
GRCh37/hg19 9q34.3(chr9:140906174-141020389)x3 copy number gain not provided [RCV000847141] Chr9:140906174..141020389 [GRCh37]
Chr9:9q34.3		 uncertain significance
GRCh37/hg19 9q34.3(chr9:140781439-141020389)x3 copy number gain not provided [RCV000847736] Chr9:140781439..141020389 [GRCh37]
Chr9:9q34.3		 uncertain significance
GRCh37/hg19 9q34.3(chr9:140920430-141020389)x1 copy number loss not provided [RCV000847982] Chr9:140920430..141020389 [GRCh37]
Chr9:9q34.3		 uncertain significance
GRCh37/hg19 9q34.3(chr9:140859469-141020389)x3 copy number gain not provided [RCV000847998] Chr9:140859469..141020389 [GRCh37]
Chr9:9q34.3		 uncertain significance
GRCh37/hg19 9q34.3(chr9:140751593-140895208)x1 copy number loss not provided [RCV000847617] Chr9:140751593..140895208 [GRCh37]
Chr9:9q34.3		 uncertain significance
GRCh37/hg19 9q34.3(chr9:140622578-141020389)x1 copy number loss not provided [RCV001006283] Chr9:140622578..141020389 [GRCh37]
Chr9:9q34.3		 pathogenic
NM_000718.4(CACNA1B):c.501C>G (p.Asn167Lys) single nucleotide variant Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV000988319]|not provided [RCV001712843] Chr9:137882854 [GRCh38]
Chr9:140777306 [GRCh37]
Chr9:9q34.3		 benign
GRCh37/hg19 9q34.3(chr9:140657611-140781422)x1 copy number loss not provided [RCV000846719] Chr9:140657611..140781422 [GRCh37]
Chr9:9q34.3		 pathogenic
GRCh37/hg19 9q34.3(chr9:140533412-140793866)x3 copy number gain not provided [RCV000847760] Chr9:140533412..140793866 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.1222GAG[1] (p.Glu409del) microsatellite not specified [RCV003317780] Chr9:137956806..137956808 [GRCh38]
Chr9:140851258..140851260 [GRCh37]
Chr9:9q34.3		 uncertain significance
GRCh37/hg19 9q34.3(chr9:140391637-140964215)x3 copy number gain not provided [RCV000999306] Chr9:140391637..140964215 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2906C>T (p.Ala969Val) single nucleotide variant not provided [RCV001092468] Chr9:138023649 [GRCh38]
Chr9:140918101 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2826T>G (p.Asp942Glu) single nucleotide variant not provided [RCV003106277] Chr9:138023569 [GRCh38]
Chr9:140918021 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3403C>T (p.Pro1135Ser) single nucleotide variant not provided [RCV003104549] Chr9:138043890 [GRCh38]
Chr9:140938342 [GRCh37]
Chr9:9q34.3		 uncertain significance
NC_000009.11:g.(?_140907561)_(141016451_?)dup duplication not provided [RCV003105296] Chr9:140907561..141016451 [GRCh37]
Chr9:9q34.3		 uncertain significance
NC_000009.11:g.(?_141000131)_(141013240_?)dup duplication not provided [RCV003105300] Chr9:141000131..141013240 [GRCh37]
Chr9:9q34.3		 uncertain significance
NC_000009.11:g.(?_141000131)_(141016451_?)dup duplication not provided [RCV003105301] Chr9:141000131..141016451 [GRCh37]
Chr9:9q34.3		 uncertain significance
NC_000009.11:g.(?_139089171)_(141016451_?)del deletion Rafiq syndrome [RCV003122293]|not provided [RCV003105304] Chr9:139089171..141016451 [GRCh37]
Chr9:9q34.3		 pathogenic|no classifications from unflagged records
NC_000009.11:g.(?_140919387)_(140919644_?)del deletion not provided [RCV003105289] Chr9:140919387..140919644 [GRCh37]
Chr9:9q34.3		 pathogenic
NC_000009.11:g.(?_140964190)_(140964235_?)del deletion not provided [RCV003105290] Chr9:140964190..140964235 [GRCh37]
Chr9:9q34.3		 uncertain significance
NC_000009.11:g.(?_140646763)_(140881326_?)del deletion Kleefstra syndrome 1 [RCV003122292]|not provided [RCV003105291] Chr9:140646763..140881326 [GRCh37]
Chr9:9q34.3		 pathogenic|no classifications from unflagged records
NC_000009.11:g.(?_140807612)_(140811903_?)del deletion not provided [RCV003105292] Chr9:140807612..140811903 [GRCh37]
Chr9:9q34.3		 pathogenic
NC_000009.11:g.(?_140846706)_(140851299_?)del deletion not provided [RCV003105293] Chr9:140846706..140851299 [GRCh37]
Chr9:9q34.3		 pathogenic
NC_000009.11:g.(?_140901199)_(140972730_?)dup duplication not provided [RCV003105295] Chr9:140901199..140972730 [GRCh37]
Chr9:9q34.3		 uncertain significance
NC_000009.11:g.(?_140917443)_(141016451_?)dup duplication not provided [RCV003105297] Chr9:140917443..141016451 [GRCh37]
Chr9:9q34.3		 uncertain significance
NC_000009.11:g.(?_140972546)_(141000279_?)dup duplication not provided [RCV003105298] Chr9:140972546..141000279 [GRCh37]
Chr9:9q34.3		 likely pathogenic
NC_000009.11:g.(?_140990916)_(141016451_?)dup duplication not provided [RCV003105299] Chr9:140990916..141016451 [GRCh37]
Chr9:9q34.3		 uncertain significance
NC_000009.11:g.(?_141008810)_(141016451_?)dup duplication not provided [RCV003105302] Chr9:141008810..141016451 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.561C>T (p.Asp187=) single nucleotide variant not provided [RCV003106441] Chr9:137913210 [GRCh38]
Chr9:140807662 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5583C>T (p.Phe1861=) single nucleotide variant Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV001554433]|not provided [RCV001647435] Chr9:138114424 [GRCh38]
Chr9:141008876 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.5777+326C>A single nucleotide variant not provided [RCV001675034] Chr9:138116005 [GRCh38]
Chr9:141010457 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.285-144T>G single nucleotide variant not provided [RCV001598377] Chr9:137878910 [GRCh38]
Chr9:140773362 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.530+212C>T single nucleotide variant not provided [RCV001648435] Chr9:137883095 [GRCh38]
Chr9:140777547 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.49G>A (p.Gly17Ser) single nucleotide variant CACNA1B-related condition [RCV003983992]|not provided [RCV001598124] Chr9:137877982 [GRCh38]
Chr9:140772434 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.1770-270C>T single nucleotide variant not provided [RCV001609328] Chr9:137986143 [GRCh38]
Chr9:140880595 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.4473+43G>T single nucleotide variant not provided [RCV001663188] Chr9:138058776 [GRCh38]
Chr9:140953228 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.6490-34dup duplication not provided [RCV001641864] Chr9:138121417..138121418 [GRCh38]
Chr9:141015869..141015870 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.3414-277A>G single nucleotide variant not provided [RCV001669896] Chr9:138046627 [GRCh38]
Chr9:140941079 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.1070+331_1070+370del microsatellite not provided [RCV001682255] Chr9:137952652..137952691 [GRCh38]
Chr9:140847104..140847143 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.391-34G>T single nucleotide variant not provided [RCV001642060] Chr9:137882710 [GRCh38]
Chr9:140777162 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.4473+17G>A single nucleotide variant not provided [RCV001700605] Chr9:138058750 [GRCh38]
Chr9:140953202 [GRCh37]
Chr9:9q34.3		 benign|likely benign
NC_000009.12:g.137877547C>T single nucleotide variant not provided [RCV001710129] Chr9:137877547 [GRCh38]
Chr9:140771999 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.1543+145T>C single nucleotide variant not provided [RCV001685114] Chr9:137971737 [GRCh38]
Chr9:140866189 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.4413G>A (p.Pro1471=) single nucleotide variant not provided [RCV001673481] Chr9:138058673 [GRCh38]
Chr9:140953125 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.1656+207A>C single nucleotide variant not provided [RCV001595511] Chr9:137976226 [GRCh38]
Chr9:140870678 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.494G>T (p.Gly165Val) single nucleotide variant not provided [RCV001595581] Chr9:137882847 [GRCh38]
Chr9:140777299 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.6489+271A>G single nucleotide variant not provided [RCV001620748] Chr9:138121152 [GRCh38]
Chr9:141015604 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.3287-151C>T single nucleotide variant not provided [RCV001710653] Chr9:138043623 [GRCh38]
Chr9:140938075 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.1974+8A>C single nucleotide variant not provided [RCV001686218] Chr9:137986862 [GRCh38]
Chr9:140881314 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.4212C>T (p.Pro1404=) single nucleotide variant not provided [RCV001529873] Chr9:138058154 [GRCh38]
Chr9:140952606 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.391-91A>C single nucleotide variant not provided [RCV001539721] Chr9:137882653 [GRCh38]
Chr9:140777105 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.297T>C (p.Tyr99=) single nucleotide variant not provided [RCV000982702] Chr9:137879066 [GRCh38]
Chr9:140773518 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2220A>G (p.Glu740=) single nucleotide variant not provided [RCV000924936] Chr9:138013188 [GRCh38]
Chr9:140907640 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3495C>T (p.Ile1165=) single nucleotide variant not provided [RCV000936504] Chr9:138046985 [GRCh38]
Chr9:140941437 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4308+10C>T single nucleotide variant not provided [RCV000953614]|not specified [RCV001528966] Chr9:138058260 [GRCh38]
Chr9:140952712 [GRCh37]
Chr9:9q34.3		 benign|likely benign
NM_000718.4(CACNA1B):c.390+1_390+2insACGACACGGAGCCCTATTTCATCGGGATCTTTTGCTTCGAGGCAGGGATCAAAA insertion not provided [RCV000887986] Chr9:137879160..137879161 [GRCh38]
Chr9:140773612..140773613 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6192G>A (p.Gln2064=) single nucleotide variant not provided [RCV000909274] Chr9:138120326 [GRCh38]
Chr9:141014778 [GRCh37]
Chr9:9q34.3		 benign|likely benign
NM_000718.4(CACNA1B):c.4032C>T (p.Tyr1344=) single nucleotide variant not provided [RCV000970211] Chr9:138057795 [GRCh38]
Chr9:140952247 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.4122C>T (p.Ser1374=) single nucleotide variant not provided [RCV000907324] Chr9:138058064 [GRCh38]
Chr9:140952516 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.4858-4G>A single nucleotide variant not provided [RCV000907325] Chr9:138075815 [GRCh38]
Chr9:140970267 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.5000A>G (p.Asn1667Ser) single nucleotide variant not provided [RCV000907326] Chr9:138078164 [GRCh38]
Chr9:140972616 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6840C>T (p.Phe2280=) single nucleotide variant CACNA1B-related condition [RCV003972982]|Dystonia 23 [RCV001270072]|not provided [RCV000981224] Chr9:138121819 [GRCh38]
Chr9:141016271 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4308+7G>A single nucleotide variant not provided [RCV000907451] Chr9:138058257 [GRCh38]
Chr9:140952709 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4474-4G>A single nucleotide variant not provided [RCV000977862] Chr9:138059075 [GRCh38]
Chr9:140953527 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.918G>A (p.Thr306=) single nucleotide variant not provided [RCV000910484] Chr9:137917383 [GRCh38]
Chr9:140811835 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.6452C>T (p.Ser2151Leu) single nucleotide variant Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV003758993]|not provided [RCV001092469] Chr9:138120844 [GRCh38]
Chr9:141015296 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6449C>T (p.Thr2150Met) single nucleotide variant not provided [RCV000889816] Chr9:138120841 [GRCh38]
Chr9:141015293 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3673A>G (p.Ile1225Val) single nucleotide variant Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV002505274]|not provided [RCV000890905] Chr9:138049278 [GRCh38]
Chr9:140943730 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.2654GGCCGC[1] (p.885RP[1]) microsatellite not provided [RCV000999303] Chr9:138023395..138023400 [GRCh38]
Chr9:140917847..140917852 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2581C>T (p.Pro861Ser) single nucleotide variant Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV002501451]|not provided [RCV000889712] Chr9:138023324 [GRCh38]
Chr9:140917776 [GRCh37]
Chr9:9q34.3		 benign|likely benign
NM_000718.4(CACNA1B):c.1975-268G>A single nucleotide variant not provided [RCV001530897] Chr9:138006499 [GRCh38]
Chr9:140900951 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.5429-262_5429-261insATGCGCATGCACACAC insertion not provided [RCV001598030] Chr9:138112124..138112125 [GRCh38]
Chr9:141006576..141006577 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.3807+68_3807+69insCGTGTGTGTGTGTG microsatellite not provided [RCV001637588] Chr9:138052249..138052250 [GRCh38]
Chr9:140946701..140946702 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.4584+4C>T single nucleotide variant CACNA1B-related neurodevelopmental disorder [RCV001563588] Chr9:138059193 [GRCh38]
Chr9:140953645 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4309-105T>C single nucleotide variant not provided [RCV001621551] Chr9:138058464 [GRCh38]
Chr9:140952916 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.5778-334A>G single nucleotide variant not provided [RCV001662910] Chr9:138117612 [GRCh38]
Chr9:141012064 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.57G>A (p.Glu19=) single nucleotide variant CACNA1B-related condition [RCV003980821]|not provided [RCV001636016] Chr9:137877990 [GRCh38]
Chr9:140772442 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.3068+23T>A single nucleotide variant not provided [RCV002259514] Chr9:138023834 [GRCh38]
Chr9:140918286 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5223-141C>T single nucleotide variant not provided [RCV001720544] Chr9:138102570 [GRCh38]
Chr9:140997022 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.4296G>A (p.Leu1432=) single nucleotide variant not provided [RCV001676876] Chr9:138058238 [GRCh38]
Chr9:140952690 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.5320-231A>G single nucleotide variant not provided [RCV001659266] Chr9:138105468 [GRCh38]
Chr9:140999920 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.390+153C>G single nucleotide variant not provided [RCV001719313] Chr9:137879312 [GRCh38]
Chr9:140773764 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.2268-202G>T single nucleotide variant not provided [RCV001719322] Chr9:138022809 [GRCh38]
Chr9:140917261 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.5913+243C>G single nucleotide variant not provided [RCV001639621] Chr9:138118324 [GRCh38]
Chr9:141012776 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.4791+166C>T single nucleotide variant not provided [RCV001657639] Chr9:138073770 [GRCh38]
Chr9:140968222 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.3068+37G>C single nucleotide variant not provided [RCV001657344] Chr9:138023848 [GRCh38]
Chr9:140918300 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.4950-308G>C single nucleotide variant not provided [RCV001618998] Chr9:138077806 [GRCh38]
Chr9:140972258 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.1187-203C>T single nucleotide variant not provided [RCV001638943] Chr9:137956568 [GRCh38]
Chr9:140851020 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.2268-195_2268-194del deletion not provided [RCV001710563] Chr9:138022806..138022807 [GRCh38]
Chr9:140917258..140917259 [GRCh37]
Chr9:9q34.3		 benign
NC_000009.12:g.137877578C>A single nucleotide variant not provided [RCV001678453] Chr9:137877578 [GRCh38]
Chr9:140772030 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.4857+277C>T single nucleotide variant not provided [RCV001617606] Chr9:138074343 [GRCh38]
Chr9:140968795 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.1506G>A (p.Val502=) single nucleotide variant not provided [RCV001693704] Chr9:137971555 [GRCh38]
Chr9:140866007 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.4792-78A>G single nucleotide variant not provided [RCV001641119] Chr9:138073923 [GRCh38]
Chr9:140968375 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.391-218G>A single nucleotide variant not provided [RCV001637747] Chr9:137882526 [GRCh38]
Chr9:140776978 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.4473+112G>A single nucleotide variant not provided [RCV001656767] Chr9:138058845 [GRCh38]
Chr9:140953297 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.3544-45A>T single nucleotide variant not provided [RCV001698742] Chr9:138047354 [GRCh38]
Chr9:140941806 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.4950-239G>A single nucleotide variant not provided [RCV001676436] Chr9:138077875 [GRCh38]
Chr9:140972327 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.3287-43A>G single nucleotide variant not provided [RCV001598978] Chr9:138043731 [GRCh38]
Chr9:140938183 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.2268-72G>C single nucleotide variant not provided [RCV001638508] Chr9:138022939 [GRCh38]
Chr9:140917391 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.5222+296A>G single nucleotide variant not provided [RCV001659189] Chr9:138096907 [GRCh38]
Chr9:140991359 [GRCh37]
Chr9:9q34.3		 benign
GRCh37/hg19 9q34.3(chr9:140612478-141020389)x1 copy number loss not provided [RCV001006282] Chr9:140612478..141020389 [GRCh37]
Chr9:9q34.3		 pathogenic
NM_000718.4(CACNA1B):c.1683G>A (p.Val561=) single nucleotide variant not provided [RCV001690917] Chr9:137984164 [GRCh38]
Chr9:140878616 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.6239-64G>C single nucleotide variant not provided [RCV001645677] Chr9:138120567 [GRCh38]
Chr9:141015019 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.6489+270T>C single nucleotide variant not provided [RCV001671734] Chr9:138121151 [GRCh38]
Chr9:141015603 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.3069-45G>T single nucleotide variant not provided [RCV001684869] Chr9:138024910 [GRCh38]
Chr9:140919362 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.284+8GCCGGGCGGG[2] microsatellite not provided [RCV001651457] Chr9:137878225..137878234 [GRCh38]
Chr9:140772677..140772686 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.2268-197_2268-194del deletion not provided [RCV001613977] Chr9:138022806..138022809 [GRCh38]
Chr9:140917258..140917261 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.285-215C>G single nucleotide variant not provided [RCV001645706] Chr9:137878839 [GRCh38]
Chr9:140773291 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.1488A>T (p.Thr496=) single nucleotide variant not provided [RCV001679977] Chr9:137971537 [GRCh38]
Chr9:140865989 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.3603+203C>T single nucleotide variant not provided [RCV001614177] Chr9:138047661 [GRCh38]
Chr9:140942113 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.4674+66T>C single nucleotide variant not provided [RCV001693577] Chr9:138069829 [GRCh38]
Chr9:140964281 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.3603+197T>A single nucleotide variant not provided [RCV001644539] Chr9:138047655 [GRCh38]
Chr9:140942107 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.1657-24A>G single nucleotide variant not provided [RCV001696593] Chr9:137984114 [GRCh38]
Chr9:140878566 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.1310G>A (p.Arg437Gln) single nucleotide variant Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV001253724]|not provided [RCV002570538] Chr9:137957664 [GRCh38]
Chr9:140852116 [GRCh37]
Chr9:9q34.3		 uncertain significance
GRCh37/hg19 9q34.3(chr9:138225001-141015001) copy number loss Microcephaly [RCV001252947] Chr9:138225001..141015001 [GRCh37]
Chr9:9q34.3		 pathogenic
NC_000009.11:g.(?_139018777)_(141018984_?)del deletion Kleefstra syndrome 1 [RCV001267844] Chr9:139018777..141018984 [GRCh37]
Chr9:9q34.3		 pathogenic
NM_000718.4(CACNA1B):c.6260C>T (p.Pro2087Leu) single nucleotide variant Inborn genetic diseases [RCV002570605]|Seizure [RCV001256102]|not provided [RCV001458718] Chr9:138120652 [GRCh38]
Chr9:141015104 [GRCh37]
Chr9:9q34.3		 likely benign|uncertain significance
NM_000718.4(CACNA1B):c.79G>T (p.Gly27Cys) single nucleotide variant Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV001291660]|not provided [RCV001529644] Chr9:137878012 [GRCh38]
Chr9:140772464 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3421C>T (p.Arg1141Cys) single nucleotide variant Seizure [RCV001255077]|not provided [RCV002570579] Chr9:138046911 [GRCh38]
Chr9:140941363 [GRCh37]
Chr9:9q34.3		 uncertain significance
Single allele deletion Epilepsy [RCV001293379] Chr9:139764148..141066491 [GRCh37]
Chr9:9q34.3		 pathogenic
NM_000718.4(CACNA1B):c.6323G>A (p.Arg2108Gln) single nucleotide variant Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV001291682] Chr9:138120715 [GRCh38]
Chr9:141015167 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2636C>A (p.Pro879His) single nucleotide variant Dystonia 23 [RCV001334561]|Inborn genetic diseases [RCV002547328]|not provided [RCV002546688] Chr9:138023379 [GRCh38]
Chr9:140917831 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6314G>A (p.Arg2105Gln) single nucleotide variant Inborn genetic diseases [RCV003169761]|not provided [RCV001356381] Chr9:138120706 [GRCh38]
Chr9:141015158 [GRCh37]
Chr9:9q34.3		 uncertain significance
GRCh37/hg19 9q34.3(chr9:139284464-141018984) copy number loss Cryptorchidism [RCV001352666] Chr9:139284464..141018984 [GRCh37]
Chr9:9q34.3		 pathogenic
NM_000718.4(CACNA1B):c.390+1_390+2insACGACACGGAGCCCTATTTCATCGGGATCTTTTGCTTCGAGGCAGGGATCAAAATCA insertion not provided [RCV001354706] Chr9:137879160..137879161 [GRCh38]
Chr9:140773612..140773613 [GRCh37]
Chr9:9q34.3		 likely pathogenic
NM_000718.4(CACNA1B):c.5065G>A (p.Val1689Ile) single nucleotide variant not provided [RCV001356393] Chr9:138078229 [GRCh38]
Chr9:140972681 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.530+209T>C single nucleotide variant not provided [RCV001536678] Chr9:137883092 [GRCh38]
Chr9:140777544 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.3481G>A (p.Ala1161Thr) single nucleotide variant Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV001420521] Chr9:138046971 [GRCh38]
Chr9:140941423 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5649+45G>A single nucleotide variant not provided [RCV001534251] Chr9:138114535 [GRCh38]
Chr9:141008987 [GRCh37]
Chr9:9q34.3		 benign
NC_000009.11:g.(?_140513481)_(141016451_?)del deletion Kleefstra syndrome 1 [RCV001387112] Chr9:140513481..141016451 [GRCh37]
Chr9:9q34.3		 pathogenic
NC_000009.11:g.(?_140622791)_(141016451_?)del deletion Kleefstra syndrome 1 [RCV001387113] Chr9:140622791..141016451 [GRCh37]
Chr9:9q34.3		 pathogenic
NC_000009.12:g.137877642C>A single nucleotide variant not provided [RCV001541222] Chr9:137877642 [GRCh38]
Chr9:140772094 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.5429-183G>A single nucleotide variant not provided [RCV001725427] Chr9:138112215 [GRCh38]
Chr9:141006667 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.5429-194G>A single nucleotide variant not provided [RCV001616951] Chr9:138112204 [GRCh38]
Chr9:141006656 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.*166G>A single nucleotide variant not provided [RCV001686140] Chr9:138122165 [GRCh38]
Chr9:141016617 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.1243+66G>A single nucleotide variant not provided [RCV001694837] Chr9:137956893 [GRCh38]
Chr9:140851345 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.3807+68_3807+69insCGTGTGTGTGTGTGTG microsatellite not provided [RCV001648891] Chr9:138052249..138052250 [GRCh38]
Chr9:140946701..140946702 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.2268-194dup duplication not provided [RCV001715488] Chr9:138022805..138022806 [GRCh38]
Chr9:140917257..140917258 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.5650-163C>T single nucleotide variant not provided [RCV001611081] Chr9:138115389 [GRCh38]
Chr9:141009841 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.6490-34del deletion not provided [RCV001608753] Chr9:138121418 [GRCh38]
Chr9:141015870 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.3543+100G>C single nucleotide variant not provided [RCV001715320] Chr9:138047133 [GRCh38]
Chr9:140941585 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.3808-101G>A single nucleotide variant not provided [RCV001539253] Chr9:138053745 [GRCh38]
Chr9:140948197 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.2584G>T (p.Ala862Ser) single nucleotide variant not provided [RCV001617554] Chr9:138023327 [GRCh38]
Chr9:140917779 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.1070+127G>A single nucleotide variant not provided [RCV001647712] Chr9:137952504 [GRCh38]
Chr9:140846956 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.5777+226G>C single nucleotide variant not provided [RCV001674942] Chr9:138115905 [GRCh38]
Chr9:141010357 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.3603+147A>G single nucleotide variant not provided [RCV001618978] Chr9:138047605 [GRCh38]
Chr9:140942057 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.284+124G>C single nucleotide variant not provided [RCV001687971] Chr9:137878341 [GRCh38]
Chr9:140772793 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.2160+111G>A single nucleotide variant not provided [RCV001690308] Chr9:138010188 [GRCh38]
Chr9:140904640 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.1975-73A>G single nucleotide variant not provided [RCV001648353] Chr9:138006694 [GRCh38]
Chr9:140901146 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.6832C>A (p.Leu2278Ile) single nucleotide variant not provided [RCV001400720] Chr9:138121811 [GRCh38]
Chr9:141016263 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3370A>G (p.Ile1124Val) single nucleotide variant not provided [RCV003108558] Chr9:138043857 [GRCh38]
Chr9:140938309 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4391C>T (p.Thr1464Met) single nucleotide variant not provided [RCV003109150] Chr9:138058651 [GRCh38]
Chr9:140953103 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2256C>T (p.Ile752=) single nucleotide variant not provided [RCV003108422] Chr9:138013224 [GRCh38]
Chr9:140907676 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1653_1654delinsCT (p.Gly552Trp) indel not provided [RCV003107046] Chr9:137976016..137976017 [GRCh38]
Chr9:140870468..140870469 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2759G>A (p.Arg920Gln) single nucleotide variant not provided [RCV003109081] Chr9:138023502 [GRCh38]
Chr9:140917954 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5319+140C>A single nucleotide variant not provided [RCV001732522] Chr9:138102947 [GRCh38]
Chr9:140997399 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.5118G>A (p.Val1706=) single nucleotide variant not provided [RCV001727496] Chr9:138096507 [GRCh38]
Chr9:140990959 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1187-101dup duplication not provided [RCV001732938] Chr9:137956653..137956654 [GRCh38]
Chr9:140851105..140851106 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.6489+156G>A single nucleotide variant not provided [RCV001776390] Chr9:138121037 [GRCh38]
Chr9:141015489 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6025A>T (p.Thr2009Ser) single nucleotide variant not provided [RCV002244405] Chr9:138118763 [GRCh38]
Chr9:141013215 [GRCh37]
Chr9:9q34.3		 benign|likely benign
NM_000718.4(CACNA1B):c.*142C>A single nucleotide variant not provided [RCV001758922] Chr9:138122141 [GRCh38]
Chr9:141016593 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3710+120T>C single nucleotide variant not provided [RCV001758971] Chr9:138049435 [GRCh38]
Chr9:140943887 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4949+261C>T single nucleotide variant not provided [RCV001759019] Chr9:138076171 [GRCh38]
Chr9:140970623 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5537-189C>T single nucleotide variant not provided [RCV001759020] Chr9:138114189 [GRCh38]
Chr9:141008641 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3969-249C>T single nucleotide variant not provided [RCV001759042] Chr9:138057483 [GRCh38]
Chr9:140951935 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3543+100G>A single nucleotide variant not provided [RCV001759056] Chr9:138047133 [GRCh38]
Chr9:140941585 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1975-74C>A single nucleotide variant not provided [RCV001759098] Chr9:138006693 [GRCh38]
Chr9:140901145 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6031-105G>A single nucleotide variant not provided [RCV001759178] Chr9:138120060 [GRCh38]
Chr9:141014512 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2268-206T>G single nucleotide variant not provided [RCV001759189] Chr9:138022805 [GRCh38]
Chr9:140917257 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.285-140G>A single nucleotide variant not provided [RCV001774991] Chr9:137878914 [GRCh38]
Chr9:140773366 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3013G>A (p.Glu1005Lys) single nucleotide variant Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV001784164] Chr9:138023756 [GRCh38]
Chr9:140918208 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.1770-229G>T single nucleotide variant not provided [RCV001769881] Chr9:137986184 [GRCh38]
Chr9:140880636 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6030+42G>C single nucleotide variant not provided [RCV001769912] Chr9:138118810 [GRCh38]
Chr9:141013262 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2651A>T (p.Glu884Val) single nucleotide variant not specified [RCV002240090] Chr9:138023394 [GRCh38]
Chr9:140917846 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4584G>C (p.Leu1528=) single nucleotide variant not specified [RCV002240091] Chr9:138059189 [GRCh38]
Chr9:140953641 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2268-203G>T single nucleotide variant not provided [RCV001769934] Chr9:138022808 [GRCh38]
Chr9:140917260 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1543+13G>A single nucleotide variant See cases [RCV002252453]|not provided [RCV003101385] Chr9:137971605 [GRCh38]
Chr9:140866057 [GRCh37]
Chr9:9q34.3		 benign|uncertain significance
NM_000718.4(CACNA1B):c.92G>T (p.Gly31Val) single nucleotide variant not provided [RCV001759035] Chr9:137878025 [GRCh38]
Chr9:140772477 [GRCh37]
Chr9:9q34.3		 benign|likely benign
NM_000718.4(CACNA1B):c.5222+119G>A single nucleotide variant not provided [RCV001758881] Chr9:138096730 [GRCh38]
Chr9:140991182 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.228C>G (p.Phe76Leu) single nucleotide variant not provided [RCV001758978] Chr9:137878161 [GRCh38]
Chr9:140772613 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4584+119A>G single nucleotide variant not provided [RCV001786039] Chr9:138059308 [GRCh38]
Chr9:140953760 [GRCh37]
Chr9:9q34.3		 likely benign
NC_000009.12:g.137877731C>T single nucleotide variant not provided [RCV001786795] Chr9:137877731 [GRCh38]
Chr9:140772183 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2092+102C>T single nucleotide variant not provided [RCV001758919] Chr9:138006986 [GRCh38]
Chr9:140901438 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5455G>A (p.Ala1819Thr) single nucleotide variant Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV001785211]|not provided [RCV001815625] Chr9:138112424 [GRCh38]
Chr9:141006876 [GRCh37]
Chr9:9q34.3		 likely benign|uncertain significance
NM_000718.4(CACNA1B):c.4857+192dup duplication not provided [RCV001786298] Chr9:138074244..138074245 [GRCh38]
Chr9:140968696..140968697 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5914-196T>C single nucleotide variant not provided [RCV001786038] Chr9:138118456 [GRCh38]
Chr9:141012908 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1975-43G>T single nucleotide variant not provided [RCV001759203] Chr9:138006724 [GRCh38]
Chr9:140901176 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5777+158G>A single nucleotide variant not provided [RCV001759018] Chr9:138115837 [GRCh38]
Chr9:141010289 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5537-163C>G single nucleotide variant not provided [RCV001759044] Chr9:138114215 [GRCh38]
Chr9:141008667 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4584+228T>G single nucleotide variant not provided [RCV001759096] Chr9:138059417 [GRCh38]
Chr9:140953869 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5914-190G>T single nucleotide variant not provided [RCV001759179] Chr9:138118462 [GRCh38]
Chr9:141012914 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3413+87dup duplication not provided [RCV001762891] Chr9:138043986..138043987 [GRCh38]
Chr9:140938438..140938439 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.6490-98A>T single nucleotide variant not provided [RCV001794754] Chr9:138121371 [GRCh38]
Chr9:141015823 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5223-17C>T single nucleotide variant not provided [RCV001762919] Chr9:138102694 [GRCh38]
Chr9:140997146 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.2804_2805insGGTG (p.His935fs) insertion Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV001780707] Chr9:138023547..138023548 [GRCh38]
Chr9:140917999..140918000 [GRCh37]
Chr9:9q34.3		 likely pathogenic
NM_000718.4(CACNA1B):c.2798_2799del (p.Arg933fs) deletion Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV001780708] Chr9:138023541..138023542 [GRCh38]
Chr9:140917993..140917994 [GRCh37]
Chr9:9q34.3		 likely pathogenic
NM_000718.4(CACNA1B):c.3807+68_3807+69insCGTGTGTGTG microsatellite not provided [RCV001794742] Chr9:138052249..138052250 [GRCh38]
Chr9:140946701..140946702 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5537-150C>G single nucleotide variant not provided [RCV001794783] Chr9:138114228 [GRCh38]
Chr9:141008680 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1070+331A>T single nucleotide variant not provided [RCV001768075] Chr9:137952708 [GRCh38]
Chr9:140847160 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2092+69G>A single nucleotide variant not provided [RCV001769796] Chr9:138006953 [GRCh38]
Chr9:140901405 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3414-31G>A single nucleotide variant not provided [RCV001768139] Chr9:138046873 [GRCh38]
Chr9:140941325 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1470C>T (p.Cys490=) single nucleotide variant not provided [RCV001759016] Chr9:137971519 [GRCh38]
Chr9:140865971 [GRCh37]
Chr9:9q34.3		 benign|likely benign
NM_000718.4(CACNA1B):c.623-59C>A single nucleotide variant not provided [RCV001757602] Chr9:137914595 [GRCh38]
Chr9:140809047 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2988CACGGAGAAGGAGGC[1] (p.997TEKEA[1]) microsatellite not provided [RCV001794653]|not specified [RCV002246510] Chr9:138023730..138023744 [GRCh38]
Chr9:140918182..140918196 [GRCh37]
Chr9:9q34.3		 benign|likely benign
NM_000718.4(CACNA1B):c.967-11C>G single nucleotide variant not provided [RCV001759017] Chr9:137952263 [GRCh38]
Chr9:140846715 [GRCh37]
Chr9:9q34.3		 benign|likely benign
NM_000718.4(CACNA1B):c.775+300G>A single nucleotide variant not provided [RCV001759097] Chr9:137915106 [GRCh38]
Chr9:140809558 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1656+17A>T single nucleotide variant not provided [RCV001759202] Chr9:137976036 [GRCh38]
Chr9:140870488 [GRCh37]
Chr9:9q34.3		 benign|likely benign
NM_000718.4(CACNA1B):c.967-51G>A single nucleotide variant not provided [RCV001779889] Chr9:137952223 [GRCh38]
Chr9:140846675 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.775+41G>A single nucleotide variant not provided [RCV001786651] Chr9:137914847 [GRCh38]
Chr9:140809299 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.967-68G>T single nucleotide variant not provided [RCV001759319] Chr9:137952206 [GRCh38]
Chr9:140846658 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5319+93del deletion not provided [RCV001762896] Chr9:138102898 [GRCh38]
Chr9:140997350 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.3807+59T>C single nucleotide variant not provided [RCV001799890] Chr9:138052247 [GRCh38]
Chr9:140946699 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4309-50C>T single nucleotide variant not provided [RCV001797307] Chr9:138058519 [GRCh38]
Chr9:140952971 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1975-46G>T single nucleotide variant not provided [RCV001797308] Chr9:138006721 [GRCh38]
Chr9:140901173 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5320-305G>A single nucleotide variant not provided [RCV001753064] Chr9:138105394 [GRCh38]
Chr9:140999846 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1244-243T>G single nucleotide variant not provided [RCV001797312] Chr9:137957355 [GRCh38]
Chr9:140851807 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1187-313G>A single nucleotide variant not provided [RCV001797313] Chr9:137956458 [GRCh38]
Chr9:140850910 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4950-253G>T single nucleotide variant not provided [RCV001797384] Chr9:138077861 [GRCh38]
Chr9:140972313 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4858-193G>A single nucleotide variant not provided [RCV001797425] Chr9:138075626 [GRCh38]
Chr9:140970078 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.63C>T (p.Ala21=) single nucleotide variant CACNA1B-related condition [RCV003968571]|not provided [RCV001816524] Chr9:137877996 [GRCh38]
Chr9:140772448 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1187-102_1187-101dup duplication not provided [RCV001797440] Chr9:137956653..137956654 [GRCh38]
Chr9:140851105..140851106 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.775+210G>C single nucleotide variant not provided [RCV001776582] Chr9:137915016 [GRCh38]
Chr9:140809468 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.284_284+1insTCCATTCGAGT insertion not provided [RCV001776597] Chr9:137878217..137878218 [GRCh38]
Chr9:140772669..140772670 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2092+136G>A single nucleotide variant not provided [RCV001776625] Chr9:138007020 [GRCh38]
Chr9:140901472 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1901+74C>T single nucleotide variant not provided [RCV001757604] Chr9:137986618 [GRCh38]
Chr9:140881070 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4858-174G>A single nucleotide variant not provided [RCV001779595] Chr9:138075645 [GRCh38]
Chr9:140970097 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.18C>T (p.Asp6=) single nucleotide variant CACNA1B-related condition [RCV003911011]|not provided [RCV001779602] Chr9:137877951 [GRCh38]
Chr9:140772403 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4949+85C>T single nucleotide variant not provided [RCV001779621] Chr9:138075995 [GRCh38]
Chr9:140970447 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1543+174T>C single nucleotide variant not provided [RCV001757603] Chr9:137971766 [GRCh38]
Chr9:140866218 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1975-100C>T single nucleotide variant not provided [RCV001758879] Chr9:138006667 [GRCh38]
Chr9:140901119 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1656+70A>T single nucleotide variant not provided [RCV001758880] Chr9:137976089 [GRCh38]
Chr9:140870541 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3413+328C>T single nucleotide variant not provided [RCV001758891] Chr9:138044228 [GRCh38]
Chr9:140938680 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.967-20C>T single nucleotide variant not provided [RCV001758918] Chr9:137952254 [GRCh38]
Chr9:140846706 [GRCh37]
Chr9:9q34.3		 benign|likely benign
NM_000718.4(CACNA1B):c.1974+49C>G single nucleotide variant not provided [RCV001810368] Chr9:137986903 [GRCh38]
Chr9:140881355 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2267+15del deletion not provided [RCV001810370] Chr9:138013250 [GRCh38]
Chr9:140907702 [GRCh37]
Chr9:9q34.3		 benign|likely benign
NM_000718.4(CACNA1B):c.6298C>T (p.Arg2100Trp) single nucleotide variant not provided [RCV002045450] Chr9:138120690 [GRCh38]
Chr9:141015142 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4465A>C (p.Met1489Leu) single nucleotide variant not provided [RCV001915562] Chr9:138058725 [GRCh38]
Chr9:140953177 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2593G>A (p.Asp865Asn) single nucleotide variant Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV001837319] Chr9:138023336 [GRCh38]
Chr9:140917788 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5555G>A (p.Gly1852Glu) single nucleotide variant not provided [RCV001950663] Chr9:138114396 [GRCh38]
Chr9:141008848 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6879G>T (p.Arg2293Ser) single nucleotide variant not provided [RCV001988662] Chr9:138121858 [GRCh38]
Chr9:141016310 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.1116C>G (p.Phe372Leu) single nucleotide variant Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV001825201] Chr9:137955743 [GRCh38]
Chr9:140850195 [GRCh37]
Chr9:9q34.3		 not provided
NM_000718.4(CACNA1B):c.3106A>G (p.Thr1036Ala) single nucleotide variant not provided [RCV001896435] Chr9:138024992 [GRCh38]
Chr9:140919444 [GRCh37]
Chr9:9q34.3		 uncertain significance
GRCh37/hg19 9q34.3(chr9:140694542-140918479)x1 copy number loss not provided [RCV001827771] Chr9:140694542..140918479 [GRCh37]
Chr9:9q34.3		 pathogenic
NM_000718.4(CACNA1B):c.2848G>A (p.Ala950Thr) single nucleotide variant See cases [RCV002252735]|not provided [RCV001987396] Chr9:138023591 [GRCh38]
Chr9:140918043 [GRCh37]
Chr9:9q34.3		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_000718.4(CACNA1B):c.4601C>T (p.Ala1534Val) single nucleotide variant Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV001837302] Chr9:138059670 [GRCh38]
Chr9:140954122 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4585-59C>A single nucleotide variant not provided [RCV001837681] Chr9:138059595 [GRCh38]
Chr9:140954047 [GRCh37]
Chr9:9q34.3		 likely benign
GRCh37/hg19 9q34.3(chr9:138740078-141020389) copy number loss not specified [RCV002052850] Chr9:138740078..141020389 [GRCh37]
Chr9:9q34.3		 pathogenic
GRCh37/hg19 9q34.3(chr9:140043049-141020389) copy number loss not specified [RCV002052854] Chr9:140043049..141020389 [GRCh37]
Chr9:9q34.3		 pathogenic
GRCh37/hg19 9q34.3(chr9:140620020-140854178) copy number loss not specified [RCV002052858] Chr9:140620020..140854178 [GRCh37]
Chr9:9q34.3		 pathogenic
NM_000718.4(CACNA1B):c.3807+68_3807+69insCGTGTGTGTGTGTGTGTG microsatellite not provided [RCV001824535] Chr9:138052249..138052250 [GRCh38]
Chr9:140946701..140946702 [GRCh37]
Chr9:9q34.3		 likely benign
GRCh37/hg19 9q34.3(chr9:139282807-141020389) copy number loss not specified [RCV002052852] Chr9:139282807..141020389 [GRCh37]
Chr9:9q34.3		 pathogenic
GRCh37/hg19 9q34.3(chr9:140230197-140893129) copy number gain not specified [RCV002052855] Chr9:140230197..140893129 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6416C>T (p.Pro2139Leu) single nucleotide variant Inborn genetic diseases [RCV003355685]|not provided [RCV001968095] Chr9:138120808 [GRCh38]
Chr9:141015260 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3184C>T (p.Arg1062Trp) single nucleotide variant not provided [RCV002006745] Chr9:138025070 [GRCh38]
Chr9:140919522 [GRCh37]
Chr9:9q34.3		 uncertain significance
GRCh37/hg19 9q34.3(chr9:140475437-141020389)x3 copy number gain not provided [RCV001829215] Chr9:140475437..141020389 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6749C>T (p.Pro2250Leu) single nucleotide variant Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV001825200]|not provided [RCV002542770] Chr9:138121728 [GRCh38]
Chr9:141016180 [GRCh37]
Chr9:9q34.3		 uncertain significance|not provided
NM_000718.4(CACNA1B):c.3035A>T (p.Asp1012Val) single nucleotide variant not provided [RCV002039772] Chr9:138023778 [GRCh38]
Chr9:140918230 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.787G>A (p.Val263Met) single nucleotide variant not provided [RCV001944811] Chr9:137917252 [GRCh38]
Chr9:140811704 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2989A>G (p.Thr997Ala) single nucleotide variant not provided [RCV001925827] Chr9:138023732 [GRCh38]
Chr9:140918184 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6365C>T (p.Ser2122Leu) single nucleotide variant not provided [RCV001925948] Chr9:138120757 [GRCh38]
Chr9:141015209 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3995A>T (p.Glu1332Val) single nucleotide variant not provided [RCV001942437] Chr9:138057758 [GRCh38]
Chr9:140952210 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2851A>G (p.Lys951Glu) single nucleotide variant not provided [RCV001943343] Chr9:138023594 [GRCh38]
Chr9:140918046 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6261G>A (p.Pro2087=) single nucleotide variant not provided [RCV001961225] Chr9:138120653 [GRCh38]
Chr9:141015105 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5320-18G>A single nucleotide variant not provided [RCV001976549] Chr9:138105681 [GRCh38]
Chr9:141000133 [GRCh37]
Chr9:9q34.3		 likely benign|uncertain significance
NM_000718.4(CACNA1B):c.4977G>C (p.Glu1659Asp) single nucleotide variant Inborn genetic diseases [RCV002558432]|not provided [RCV001919260] Chr9:138078141 [GRCh38]
Chr9:140972593 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3229A>C (p.Ile1077Leu) single nucleotide variant not provided [RCV001916628] Chr9:138025115 [GRCh38]
Chr9:140919567 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4791+11C>T single nucleotide variant not provided [RCV001974177] Chr9:138073615 [GRCh38]
Chr9:140968067 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6601A>G (p.Ile2201Val) single nucleotide variant not provided [RCV001957825] Chr9:138121580 [GRCh38]
Chr9:141016032 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3050T>C (p.Leu1017Pro) single nucleotide variant not provided [RCV001903467] Chr9:138023793 [GRCh38]
Chr9:140918245 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6305G>A (p.Arg2102Gln) single nucleotide variant not provided [RCV001990562] Chr9:138120697 [GRCh38]
Chr9:141015149 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5834A>T (p.Gln1945Leu) single nucleotide variant not provided [RCV001934606] Chr9:138118002 [GRCh38]
Chr9:141012454 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6313C>T (p.Arg2105Trp) single nucleotide variant not provided [RCV001993778] Chr9:138120705 [GRCh38]
Chr9:141015157 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6559C>T (p.Arg2187Trp) single nucleotide variant Inborn genetic diseases [RCV002545541]|not provided [RCV002016331] Chr9:138121538 [GRCh38]
Chr9:141015990 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3958A>G (p.Arg1320Gly) single nucleotide variant not provided [RCV001924603] Chr9:138053996 [GRCh38]
Chr9:140948448 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.1218T>G (p.Asn406Lys) single nucleotide variant not provided [RCV002035190] Chr9:137956802 [GRCh38]
Chr9:140851254 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5965C>G (p.Pro1989Ala) single nucleotide variant Inborn genetic diseases [RCV003167051]|not provided [RCV001925042] Chr9:138118703 [GRCh38]
Chr9:141013155 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6030+3A>G single nucleotide variant not provided [RCV002014357] Chr9:138118771 [GRCh38]
Chr9:141013223 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5778-18_5778-15del deletion not provided [RCV002124666] Chr9:138117925..138117928 [GRCh38]
Chr9:141012377..141012380 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.1383G>A (p.Ser461=) single nucleotide variant not provided [RCV002075252] Chr9:137971432 [GRCh38]
Chr9:140865884 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5222+12G>A single nucleotide variant not provided [RCV002124836] Chr9:138096623 [GRCh38]
Chr9:140991075 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.5706G>A (p.Pro1902=) single nucleotide variant not provided [RCV002148059] Chr9:138115608 [GRCh38]
Chr9:141010060 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6017C>T (p.Ala2006Val) single nucleotide variant not provided [RCV002147078] Chr9:138118755 [GRCh38]
Chr9:141013207 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.4792-19C>A single nucleotide variant not provided [RCV002128929] Chr9:138073982 [GRCh38]
Chr9:140968434 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1770-5C>T single nucleotide variant not provided [RCV002109426] Chr9:137986408 [GRCh38]
Chr9:140880860 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3807+62GT[10] microsatellite not provided [RCV002247171] Chr9:138052249..138052250 [GRCh38]
Chr9:140946701..140946702 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6147G>A (p.Ser2049=) single nucleotide variant not provided [RCV002124959] Chr9:138120281 [GRCh38]
Chr9:141014733 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.6238+19G>A single nucleotide variant not provided [RCV002129128] Chr9:138120391 [GRCh38]
Chr9:141014843 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2663_2668dup (p.Pro888_His889dup) duplication CACNA1B-related condition [RCV003941274]|not provided [RCV002106993] Chr9:138023404..138023405 [GRCh38]
Chr9:140917856..140917857 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5649+10G>A single nucleotide variant not provided [RCV002188864] Chr9:138114500 [GRCh38]
Chr9:141008952 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2778G>A (p.Glu926=) single nucleotide variant not provided [RCV002149605] Chr9:138023521 [GRCh38]
Chr9:140917973 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6927C>T (p.Arg2309=) single nucleotide variant not provided [RCV002211823] Chr9:138121906 [GRCh38]
Chr9:141016358 [GRCh37]
Chr9:9q34.3		 benign
NC_000009.11:g.(?_140728781)_(141016451_?)dup duplication Kleefstra syndrome 1 [RCV002130990]|not provided [RCV003107965] Chr9:140728781..141016451 [GRCh37]
Chr9:9q34.3		 likely benign|uncertain significance|no classifications from unflagged records
NM_000718.4(CACNA1B):c.5223-18G>A single nucleotide variant not provided [RCV002092868] Chr9:138102693 [GRCh38]
Chr9:140997145 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5222+11C>T single nucleotide variant not provided [RCV002187239] Chr9:138096622 [GRCh38]
Chr9:140991074 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6238+18C>T single nucleotide variant not provided [RCV002171604] Chr9:138120390 [GRCh38]
Chr9:141014842 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6144G>A (p.Ser2048=) single nucleotide variant not provided [RCV002116868] Chr9:138120278 [GRCh38]
Chr9:141014730 [GRCh37]
Chr9:9q34.3		 benign|likely benign
NM_000718.4(CACNA1B):c.2544G>A (p.Pro848=) single nucleotide variant not provided [RCV002112359] Chr9:138023287 [GRCh38]
Chr9:140917739 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1187-8C>T single nucleotide variant not provided [RCV002093580] Chr9:137956763 [GRCh38]
Chr9:140851215 [GRCh37]
Chr9:9q34.3		 likely benign|conflicting interpretations of pathogenicity
NM_000718.4(CACNA1B):c.2055G>A (p.Ser685=) single nucleotide variant CACNA1B-related condition [RCV003903603]|not provided [RCV002191657] Chr9:138006847 [GRCh38]
Chr9:140901299 [GRCh37]
Chr9:9q34.3		 benign|likely benign
NM_000718.4(CACNA1B):c.5560G>A (p.Val1854Ile) single nucleotide variant CACNA1B-related condition [RCV003948883]|Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV003146504]|not provided [RCV002096752] Chr9:138114401 [GRCh38]
Chr9:141008853 [GRCh37]
Chr9:9q34.3		 likely benign|uncertain significance
NM_000718.4(CACNA1B):c.3324G>A (p.Lys1108=) single nucleotide variant not provided [RCV002093676] Chr9:138043811 [GRCh38]
Chr9:140938263 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3414-14G>A single nucleotide variant not provided [RCV002115675] Chr9:138046890 [GRCh38]
Chr9:140941342 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.5355G>C (p.Glu1785Asp) single nucleotide variant not provided [RCV002214506] Chr9:138105734 [GRCh38]
Chr9:141000186 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6088C>G (p.Arg2030Gly) single nucleotide variant not provided [RCV002214507] Chr9:138120222 [GRCh38]
Chr9:141014674 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6615G>A (p.Thr2205=) single nucleotide variant not provided [RCV002214508] Chr9:138121594 [GRCh38]
Chr9:141016046 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4071G>A (p.Thr1357=) single nucleotide variant CACNA1B-related condition [RCV003958762]|not provided [RCV002136856] Chr9:138057834 [GRCh38]
Chr9:140952286 [GRCh37]
Chr9:9q34.3		 benign|likely benign
NM_000718.4(CACNA1B):c.3710+13C>G single nucleotide variant not provided [RCV002203201] Chr9:138049328 [GRCh38]
Chr9:140943780 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5913+12dup duplication not provided [RCV002099535] Chr9:138118090..138118091 [GRCh38]
Chr9:141012542..141012543 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.2160+10G>A single nucleotide variant not provided [RCV002083370] Chr9:138010087 [GRCh38]
Chr9:140904539 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3710+14G>A single nucleotide variant not provided [RCV002202368] Chr9:138049329 [GRCh38]
Chr9:140943781 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1901+12C>T single nucleotide variant not provided [RCV002163897] Chr9:137986556 [GRCh38]
Chr9:140881008 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2093-60C>A single nucleotide variant not provided [RCV002244499] Chr9:138009950 [GRCh38]
Chr9:140904402 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3456C>T (p.Phe1152=) single nucleotide variant not provided [RCV002217434] Chr9:138046946 [GRCh38]
Chr9:140941398 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4950-223G>A single nucleotide variant not provided [RCV002255220] Chr9:138077891 [GRCh38]
Chr9:140972343 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4924T>C (p.Leu1642=) single nucleotide variant not provided [RCV002122623] Chr9:138075885 [GRCh38]
Chr9:140970337 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.6738G>C (p.Gln2246His) single nucleotide variant CACNA1B-related condition [RCV003970928]|not provided [RCV002117912] Chr9:138121717 [GRCh38]
Chr9:141016169 [GRCh37]
Chr9:9q34.3		 benign|likely benign
NM_000718.4(CACNA1B):c.6432C>T (p.Ser2144=) single nucleotide variant not provided [RCV002103662] Chr9:138120824 [GRCh38]
Chr9:141015276 [GRCh37]
Chr9:9q34.3		 benign|likely benign
NM_000718.4(CACNA1B):c.1530T>C (p.Leu510=) single nucleotide variant not provided [RCV002180993] Chr9:137971579 [GRCh38]
Chr9:140866031 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3255G>A (p.Thr1085=) single nucleotide variant CACNA1B-related condition [RCV003933585]|not provided [RCV002137946] Chr9:138025141 [GRCh38]
Chr9:140919593 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.6724G>C (p.Asp2242His) single nucleotide variant Inborn genetic diseases [RCV002555433]|not provided [RCV002183009] Chr9:138121703 [GRCh38]
Chr9:141016155 [GRCh37]
Chr9:9q34.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000718.4(CACNA1B):c.1983G>A (p.Thr661=) single nucleotide variant not provided [RCV002178389] Chr9:138006775 [GRCh38]
Chr9:140901227 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5869C>T (p.Arg1957Cys) single nucleotide variant not provided [RCV002137210] Chr9:138118037 [GRCh38]
Chr9:141012489 [GRCh37]
Chr9:9q34.3		 likely benign|conflicting interpretations of pathogenicity
NM_000718.4(CACNA1B):c.2886C>A (p.Pro962=) single nucleotide variant Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV002500385]|not provided [RCV002181124] Chr9:138023629 [GRCh38]
Chr9:140918081 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1187-10C>T single nucleotide variant not provided [RCV002123520] Chr9:137956761 [GRCh38]
Chr9:140851213 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6642C>T (p.Ala2214=) single nucleotide variant not provided [RCV002203843] Chr9:138121621 [GRCh38]
Chr9:141016073 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5214G>A (p.Pro1738=) single nucleotide variant not provided [RCV002081961] Chr9:138096603 [GRCh38]
Chr9:140991055 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.6072G>A (p.Thr2024=) single nucleotide variant Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV002498256]|not provided [RCV002219050] Chr9:138120206 [GRCh38]
Chr9:141014658 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.6147G>C (p.Ser2049=) single nucleotide variant not provided [RCV002183824] Chr9:138120281 [GRCh38]
Chr9:141014733 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.5223-92C>T single nucleotide variant not provided [RCV002221810]   likely benign
NM_000718.4(CACNA1B):c.6489+18A>G single nucleotide variant not provided [RCV002160649] Chr9:138120899 [GRCh38]
Chr9:141015351 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.6031-6C>T single nucleotide variant not provided [RCV002142741] Chr9:138120159 [GRCh38]
Chr9:141014611 [GRCh37]
Chr9:9q34.3		 benign|likely benign
NC_000009.11:g.(?_140040158)_(141016451_?)del deletion Intellectual disability, autosomal dominant 8 [RCV003109674]|Kleefstra syndrome 1 [RCV003116549] Chr9:140040158..141016451 [GRCh37]
Chr9:9q34.3		 pathogenic|uncertain significance
NC_000009.11:g.(?_138392557)_(141016451_?)del deletion Adams-Oliver syndrome 5 [RCV003119767]|Developmental and epileptic encephalopathy, 14 [RCV003109684]|Familial aplasia of the vermis [RCV003119768] Chr9:138392557..141016451 [GRCh37]
Chr9:9q34.3		 pathogenic|uncertain significance
NM_000718.4(CACNA1B):c.2940G>C (p.Arg980=) single nucleotide variant not provided [RCV003110340] Chr9:138023683 [GRCh38]
Chr9:140918135 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1242C>T (p.Asp414=) single nucleotide variant not provided [RCV003118039] Chr9:137956826 [GRCh38]
Chr9:140851278 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6474G>A (p.Pro2158=) single nucleotide variant not provided [RCV003115227] Chr9:138120866 [GRCh38]
Chr9:141015318 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6966G>A (p.Ser2322=) single nucleotide variant not provided [RCV003114154] Chr9:138121945 [GRCh38]
Chr9:141016397 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1943C>A (p.Thr648Asn) single nucleotide variant Inborn genetic diseases [RCV003162168]|not provided [RCV003115896] Chr9:137986823 [GRCh38]
Chr9:140881275 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2745C>T (p.Gly915=) single nucleotide variant not provided [RCV003116909] Chr9:138023488 [GRCh38]
Chr9:140917940 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5953_5954delinsTT (p.Pro1985Phe) indel not provided [RCV003118353] Chr9:138118691..138118692 [GRCh38]
Chr9:141013143..141013144 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.966+9C>G single nucleotide variant not provided [RCV003115999] Chr9:137917440 [GRCh38]
Chr9:140811892 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5870G>A (p.Arg1957His) single nucleotide variant not provided [RCV003118276] Chr9:138118038 [GRCh38]
Chr9:141012490 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.1110C>T (p.Arg370=) single nucleotide variant not provided [RCV003112659] Chr9:137955737 [GRCh38]
Chr9:140850189 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6117G>A (p.Pro2039=) single nucleotide variant not provided [RCV003115563] Chr9:138120251 [GRCh38]
Chr9:141014703 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2638G>A (p.Gly880Ser) single nucleotide variant not provided [RCV003116151] Chr9:138023381 [GRCh38]
Chr9:140917833 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5996C>T (p.Ala1999Val) single nucleotide variant not provided [RCV003116179] Chr9:138118734 [GRCh38]
Chr9:141013186 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2586G>A (p.Ala862=) single nucleotide variant not provided [RCV003112215] Chr9:138023329 [GRCh38]
Chr9:140917781 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2518G>A (p.Glu840Lys) single nucleotide variant not provided [RCV003112279] Chr9:138023261 [GRCh38]
Chr9:140917713 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2020G>A (p.Glu674Lys) single nucleotide variant Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV003143586]|not provided [RCV003112926] Chr9:138006812 [GRCh38]
Chr9:140901264 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6417G>A (p.Pro2139=) single nucleotide variant not provided [RCV003112999] Chr9:138120809 [GRCh38]
Chr9:141015261 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1536G>T (p.Thr512=) single nucleotide variant not provided [RCV003117965] Chr9:137971585 [GRCh38]
Chr9:140866037 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6518T>G (p.Leu2173Trp) single nucleotide variant not provided [RCV003118707] Chr9:138121497 [GRCh38]
Chr9:141015949 [GRCh37]
Chr9:9q34.3		 uncertain significance
NC_000009.11:g.(?_131087402)_(141016451_?)dup duplication Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome [RCV003119700] Chr9:131087402..141016451 [GRCh37]
Chr9:9q34.11-34.3		 uncertain significance
NC_000009.11:g.(?_140637803)_(141016451_?)dup duplication Kleefstra syndrome 1 [RCV003122718] Chr9:140637803..141016451 [GRCh37]
Chr9:9q34.3		 uncertain significance
NC_000009.11:g.(?_136218768)_(141016451_?)dup duplication Kleefstra syndrome 1 [RCV003122719] Chr9:136218768..141016451 [GRCh37]
Chr9:9q34.2-34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2085C>T (p.Phe695=) single nucleotide variant not provided [RCV003121742] Chr9:138006877 [GRCh38]
Chr9:140901329 [GRCh37]
Chr9:9q34.3		 likely benign
NC_000009.11:g.(?_140772386)_(140907707_?)dup duplication not provided [RCV003105294] Chr9:140772386..140907707 [GRCh37]
Chr9:9q34.3		 uncertain significance
NC_000009.11:g.(?_141014597)_(141016451_?)dup duplication not provided [RCV003105303] Chr9:141014597..141016451 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4858-103C>T single nucleotide variant not provided [RCV002245135] Chr9:138075716 [GRCh38]
Chr9:140970168 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5647C>T (p.Gln1883Ter) single nucleotide variant See cases [RCV002252454] Chr9:138114488 [GRCh38]
Chr9:141008940 [GRCh37]
Chr9:9q34.3		 likely pathogenic
NM_000718.4(CACNA1B):c.4950-52C>T single nucleotide variant not provided [RCV002279051] Chr9:138078062 [GRCh38]
Chr9:140972514 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.390+201G>A single nucleotide variant not provided [RCV002292066] Chr9:137879360 [GRCh38]
Chr9:140773812 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3518T>C (p.Val1173Ala) single nucleotide variant not provided [RCV002293213] Chr9:138047008 [GRCh38]
Chr9:140941460 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.1657-234G>T single nucleotide variant not provided [RCV002288191] Chr9:137983904 [GRCh38]
Chr9:140878356 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3414-36G>C single nucleotide variant not provided [RCV003129226] Chr9:138046868 [GRCh38]
Chr9:140941320 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6546C>T (p.Pro2182=) single nucleotide variant not provided [RCV002967897] Chr9:138121525 [GRCh38]
Chr9:141015977 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6841G>A (p.Glu2281Lys) single nucleotide variant not provided [RCV002613887] Chr9:138121820 [GRCh38]
Chr9:141016272 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5537-17C>T single nucleotide variant not provided [RCV002614015] Chr9:138114361 [GRCh38]
Chr9:141008813 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.149C>T (p.Ala50Val) single nucleotide variant Inborn genetic diseases [RCV002968258] Chr9:137878082 [GRCh38]
Chr9:140772534 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3908T>C (p.Leu1303Pro) single nucleotide variant not provided [RCV002304272] Chr9:138053946 [GRCh38]
Chr9:140948398 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6340C>T (p.Arg2114Trp) single nucleotide variant Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV002295370] Chr9:138120732 [GRCh38]
Chr9:141015184 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2744G>T (p.Gly915Val) single nucleotide variant not provided [RCV002304539] Chr9:138023487 [GRCh38]
Chr9:140917939 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6614C>T (p.Thr2205Met) single nucleotide variant not provided [RCV002295898] Chr9:138121593 [GRCh38]
Chr9:141016045 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.95C>T (p.Pro32Leu) single nucleotide variant Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV002295368] Chr9:137878028 [GRCh38]
Chr9:140772480 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6157C>A (p.His2053Asn) single nucleotide variant not provided [RCV002296390] Chr9:138120291 [GRCh38]
Chr9:141014743 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4323C>G (p.Asp1441Glu) single nucleotide variant not provided [RCV002301475] Chr9:138058583 [GRCh38]
Chr9:140953035 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6272C>G (p.Pro2091Arg) single nucleotide variant not provided [RCV002300499] Chr9:138120664 [GRCh38]
Chr9:141015116 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6379T>A (p.Phe2127Ile) single nucleotide variant not provided [RCV002296193] Chr9:138120771 [GRCh38]
Chr9:141015223 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2869C>T (p.Arg957Trp) single nucleotide variant Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV002295369] Chr9:138023612 [GRCh38]
Chr9:140918064 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4303A>G (p.Asn1435Asp) single nucleotide variant not provided [RCV002296203] Chr9:138058245 [GRCh38]
Chr9:140952697 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5778-157C>T single nucleotide variant not provided [RCV002306090] Chr9:138117789 [GRCh38]
Chr9:141012241 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3737C>G (p.Thr1246Ser) single nucleotide variant not provided [RCV002301290] Chr9:138052118 [GRCh38]
Chr9:140946570 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5813C>A (p.Ser1938Tyr) single nucleotide variant Inborn genetic diseases [RCV003269286]|not provided [RCV002775700] Chr9:138117981 [GRCh38]
Chr9:141012433 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.1059C>G (p.Gly353=) single nucleotide variant not provided [RCV003032393] Chr9:137952366 [GRCh38]
Chr9:140846818 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1769+11T>G single nucleotide variant not provided [RCV002858599] Chr9:137984261 [GRCh38]
Chr9:140878713 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2699C>T (p.Pro900Leu) single nucleotide variant not provided [RCV002971493] Chr9:138023442 [GRCh38]
Chr9:140917894 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.1415G>A (p.Arg472Gln) single nucleotide variant not provided [RCV002681546] Chr9:137971464 [GRCh38]
Chr9:140865916 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3346G>A (p.Val1116Met) single nucleotide variant Inborn genetic diseases [RCV003095368]|not provided [RCV003088464] Chr9:138043833 [GRCh38]
Chr9:140938285 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2818C>T (p.His940Tyr) single nucleotide variant Inborn genetic diseases [RCV002837184] Chr9:138023561 [GRCh38]
Chr9:140918013 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2160+1G>A single nucleotide variant not provided [RCV002862412] Chr9:138010078 [GRCh38]
Chr9:140904530 [GRCh37]
Chr9:9q34.3		 likely pathogenic
NM_000718.4(CACNA1B):c.6066C>T (p.Ile2022=) single nucleotide variant not provided [RCV002903481] Chr9:138120200 [GRCh38]
Chr9:141014652 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3287-17G>A single nucleotide variant not provided [RCV002838449] Chr9:138043757 [GRCh38]
Chr9:140938209 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2055G>T (p.Ser685=) single nucleotide variant not provided [RCV002614722] Chr9:138006847 [GRCh38]
Chr9:140901299 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6395G>A (p.Arg2132His) single nucleotide variant not provided [RCV002751189] Chr9:138120787 [GRCh38]
Chr9:141015239 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2583C>T (p.Pro861=) single nucleotide variant not provided [RCV002616946] Chr9:138023326 [GRCh38]
Chr9:140917778 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6335A>G (p.Gln2112Arg) single nucleotide variant not provided [RCV002837805] Chr9:138120727 [GRCh38]
Chr9:141015179 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5536+13G>A single nucleotide variant not provided [RCV002731410] Chr9:138112518 [GRCh38]
Chr9:141006970 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4949+7T>C single nucleotide variant not provided [RCV002858232] Chr9:138075917 [GRCh38]
Chr9:140970369 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.623-4C>G single nucleotide variant not provided [RCV002614620] Chr9:137914650 [GRCh38]
Chr9:140809102 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3521G>A (p.Arg1174His) single nucleotide variant not provided [RCV002617296] Chr9:138047011 [GRCh38]
Chr9:140941463 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2641G>A (p.Ala881Thr) single nucleotide variant not provided [RCV002861681] Chr9:138023384 [GRCh38]
Chr9:140917836 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4340A>G (p.Lys1447Arg) single nucleotide variant not provided [RCV002730180] Chr9:138058600 [GRCh38]
Chr9:140953052 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2025G>A (p.Ser675=) single nucleotide variant not provided [RCV002972562] Chr9:138006817 [GRCh38]
Chr9:140901269 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.390+1_390+2insACGACACGGAGCCCTATTTCATCGGGATCT insertion not provided [RCV002967856] Chr9:137879160..137879161 [GRCh38]
Chr9:140773612..140773613 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6383_6385del (p.Tyr2128del) deletion not provided [RCV002863056] Chr9:138120773..138120775 [GRCh38]
Chr9:141015225..141015227 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6268C>T (p.Pro2090Ser) single nucleotide variant not provided [RCV002839376] Chr9:138120660 [GRCh38]
Chr9:141015112 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6593G>A (p.Arg2198His) single nucleotide variant Inborn genetic diseases [RCV002995061]|not provided [RCV002988867] Chr9:138121572 [GRCh38]
Chr9:141016024 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2081T>C (p.Leu694Pro) single nucleotide variant not provided [RCV003014907] Chr9:138006873 [GRCh38]
Chr9:140901325 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3969-19C>T single nucleotide variant not provided [RCV002771509] Chr9:138057713 [GRCh38]
Chr9:140952165 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5772G>A (p.Gly1924=) single nucleotide variant not provided [RCV002993609] Chr9:138115674 [GRCh38]
Chr9:141010126 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3790C>T (p.Arg1264Trp) single nucleotide variant not provided [RCV002775668] Chr9:138052171 [GRCh38]
Chr9:140946623 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5736T>C (p.Leu1912=) single nucleotide variant not provided [RCV002904976] Chr9:138115638 [GRCh38]
Chr9:141010090 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3891C>T (p.Ala1297=) single nucleotide variant not provided [RCV002731138] Chr9:138053929 [GRCh38]
Chr9:140948381 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3543+20G>A single nucleotide variant not provided [RCV002614433] Chr9:138047053 [GRCh38]
Chr9:140941505 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2865C>T (p.Arg955=) single nucleotide variant not provided [RCV002615343] Chr9:138023608 [GRCh38]
Chr9:140918060 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1349G>A (p.Arg450His) single nucleotide variant not provided [RCV002776322] Chr9:137971398 [GRCh38]
Chr9:140865850 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3710+9C>T single nucleotide variant not provided [RCV002618055] Chr9:138049324 [GRCh38]
Chr9:140943776 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4894A>G (p.Ile1632Val) single nucleotide variant not provided [RCV002843638] Chr9:138075855 [GRCh38]
Chr9:140970307 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5531A>G (p.His1844Arg) single nucleotide variant Inborn genetic diseases [RCV002902001] Chr9:138112500 [GRCh38]
Chr9:141006952 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2035G>A (p.Val679Ile) single nucleotide variant Inborn genetic diseases [RCV002729662]|not provided [RCV003111759] Chr9:138006827 [GRCh38]
Chr9:140901279 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2959C>A (p.Pro987Thr) single nucleotide variant not provided [RCV002776420] Chr9:138023702 [GRCh38]
Chr9:140918154 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5564A>T (p.Tyr1855Phe) single nucleotide variant not provided [RCV002947233] Chr9:138114405 [GRCh38]
Chr9:141008857 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.1770-20C>A single nucleotide variant not provided [RCV002996987] Chr9:137986393 [GRCh38]
Chr9:140880845 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2065T>G (p.Phe689Val) single nucleotide variant not provided [RCV002996790] Chr9:138006857 [GRCh38]
Chr9:140901309 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6048C>A (p.Ser2016Arg) single nucleotide variant not provided [RCV002968063] Chr9:138120182 [GRCh38]
Chr9:141014634 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4352G>T (p.Arg1451Leu) single nucleotide variant not provided [RCV002904472] Chr9:138058612 [GRCh38]
Chr9:140953064 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4584+17del deletion not provided [RCV002866034] Chr9:138059204 [GRCh38]
Chr9:140953656 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5649+9C>T single nucleotide variant not provided [RCV002618729] Chr9:138114499 [GRCh38]
Chr9:141008951 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5765A>G (p.Asn1922Ser) single nucleotide variant not provided [RCV002755719] Chr9:138115667 [GRCh38]
Chr9:141010119 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6127C>T (p.Pro2043Ser) single nucleotide variant not provided [RCV003017565] Chr9:138120261 [GRCh38]
Chr9:141014713 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5220G>C (p.Ala1740=) single nucleotide variant not provided [RCV002947707] Chr9:138096609 [GRCh38]
Chr9:140991061 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6030+1G>C single nucleotide variant not provided [RCV003017730] Chr9:138118769 [GRCh38]
Chr9:141013221 [GRCh37]
Chr9:9q34.3		 likely pathogenic
NM_000718.4(CACNA1B):c.4107-3C>T single nucleotide variant not provided [RCV002819220] Chr9:138058046 [GRCh38]
Chr9:140952498 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.776-9T>C single nucleotide variant CACNA1B-related condition [RCV003926568]|not provided [RCV002948099] Chr9:137917232 [GRCh38]
Chr9:140811684 [GRCh37]
Chr9:9q34.3		 benign|likely benign
NM_000718.4(CACNA1B):c.5032G>A (p.Glu1678Lys) single nucleotide variant not provided [RCV002948118] Chr9:138078196 [GRCh38]
Chr9:140972648 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4474-20A>G single nucleotide variant not provided [RCV002617924] Chr9:138059059 [GRCh38]
Chr9:140953511 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4916G>A (p.Arg1639Gln) single nucleotide variant not provided [RCV002754976] Chr9:138075877 [GRCh38]
Chr9:140970329 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2662C>T (p.Pro888Ser) single nucleotide variant not provided [RCV002727163] Chr9:138023405 [GRCh38]
Chr9:140917857 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5889C>T (p.Ile1963=) single nucleotide variant not provided [RCV002755043] Chr9:138118057 [GRCh38]
Chr9:141012509 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.565C>T (p.Arg189Ter) single nucleotide variant not provided [RCV002947306] Chr9:137913214 [GRCh38]
Chr9:140807666 [GRCh37]
Chr9:9q34.3		 pathogenic
NM_000718.4(CACNA1B):c.3579C>G (p.Val1193=) single nucleotide variant not provided [RCV002636110] Chr9:138047434 [GRCh38]
Chr9:140941886 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.390+1_390+2insACGACACGGAGCCCTATTTCATCGGGATC insertion not provided [RCV002948147] Chr9:137879160..137879161 [GRCh38]
Chr9:140773612..140773613 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2695C>T (p.Pro899Ser) single nucleotide variant Inborn genetic diseases [RCV003167717]|not provided [RCV002756071] Chr9:138023438 [GRCh38]
Chr9:140917890 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4585-4C>G single nucleotide variant not provided [RCV002967700] Chr9:138059650 [GRCh38]
Chr9:140954102 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5705C>T (p.Pro1902Leu) single nucleotide variant not provided [RCV002751342] Chr9:138115607 [GRCh38]
Chr9:141010059 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3603+18C>T single nucleotide variant not provided [RCV002863786] Chr9:138047476 [GRCh38]
Chr9:140941928 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6394C>T (p.Arg2132Cys) single nucleotide variant Inborn genetic diseases [RCV003250675]|not provided [RCV002972484] Chr9:138120786 [GRCh38]
Chr9:141015238 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6855C>T (p.Ala2285=) single nucleotide variant not provided [RCV002816039] Chr9:138121834 [GRCh38]
Chr9:141016286 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5845C>T (p.His1949Tyr) single nucleotide variant Inborn genetic diseases [RCV002817094] Chr9:138118013 [GRCh38]
Chr9:141012465 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6550C>T (p.Arg2184Cys) single nucleotide variant not provided [RCV002615159] Chr9:138121529 [GRCh38]
Chr9:141015981 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2503C>T (p.Arg835Ter) single nucleotide variant not provided [RCV002904636] Chr9:138023246 [GRCh38]
Chr9:140917698 [GRCh37]
Chr9:9q34.3		 pathogenic
NM_000718.4(CACNA1B):c.3438C>G (p.Ile1146Met) single nucleotide variant not provided [RCV002686382] Chr9:138046928 [GRCh38]
Chr9:140941380 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5161C>T (p.Leu1721=) single nucleotide variant not provided [RCV002994509] Chr9:138096550 [GRCh38]
Chr9:140991002 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6476G>A (p.Gly2159Glu) single nucleotide variant Inborn genetic diseases [RCV002859766] Chr9:138120868 [GRCh38]
Chr9:141015320 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.1050G>A (p.Leu350=) single nucleotide variant not provided [RCV002838351] Chr9:137952357 [GRCh38]
Chr9:140846809 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5975G>C (p.Gly1992Ala) single nucleotide variant not provided [RCV002681582] Chr9:138118713 [GRCh38]
Chr9:141013165 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.762C>T (p.Phe254=) single nucleotide variant not provided [RCV002904131] Chr9:137914793 [GRCh38]
Chr9:140809245 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4779C>T (p.Val1593=) single nucleotide variant not provided [RCV002731616] Chr9:138073592 [GRCh38]
Chr9:140968044 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3949G>A (p.Glu1317Lys) single nucleotide variant not provided [RCV002904707] Chr9:138053987 [GRCh38]
Chr9:140948439 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6490-19C>G single nucleotide variant not provided [RCV002617487] Chr9:138121450 [GRCh38]
Chr9:141015902 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3489C>T (p.Ser1163=) single nucleotide variant not provided [RCV002616949] Chr9:138046979 [GRCh38]
Chr9:140941431 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6003C>T (p.Ser2001=) single nucleotide variant not provided [RCV003033162] Chr9:138118741 [GRCh38]
Chr9:141013193 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.584G>A (p.Arg195His) single nucleotide variant not provided [RCV003033485] Chr9:137913233 [GRCh38]
Chr9:140807685 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4851C>T (p.Gly1617=) single nucleotide variant not provided [RCV002617506] Chr9:138074060 [GRCh38]
Chr9:140968512 [GRCh37]
Chr9:9q34.3		 likely benign|uncertain significance
NM_000718.4(CACNA1B):c.1289A>G (p.His430Arg) single nucleotide variant not provided [RCV002681967] Chr9:137957643 [GRCh38]
Chr9:140852095 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.1764C>T (p.Val588=) single nucleotide variant not provided [RCV002903480] Chr9:137984245 [GRCh38]
Chr9:140878697 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6140C>T (p.Ala2047Val) single nucleotide variant Inborn genetic diseases [RCV002642210]|not provided [RCV002614696] Chr9:138120274 [GRCh38]
Chr9:141014726 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.148G>T (p.Ala50Ser) single nucleotide variant Inborn genetic diseases [RCV002730036] Chr9:137878081 [GRCh38]
Chr9:140772533 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.1266G>A (p.Lys422=) single nucleotide variant not provided [RCV002616370] Chr9:137957620 [GRCh38]
Chr9:140852072 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1907A>G (p.Asn636Ser) single nucleotide variant not provided [RCV002614165] Chr9:137986787 [GRCh38]
Chr9:140881239 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5320-12G>C single nucleotide variant not provided [RCV002816477] Chr9:138105687 [GRCh38]
Chr9:141000139 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6793G>C (p.Asp2265His) single nucleotide variant not provided [RCV002616889] Chr9:138121772 [GRCh38]
Chr9:141016224 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4738C>T (p.Arg1580Cys) single nucleotide variant not provided [RCV002971254] Chr9:138073551 [GRCh38]
Chr9:140968003 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.1533C>T (p.Thr511=) single nucleotide variant not provided [RCV002971712] Chr9:137971582 [GRCh38]
Chr9:140866034 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6611A>G (p.Lys2204Arg) single nucleotide variant not provided [RCV003014738] Chr9:138121590 [GRCh38]
Chr9:141016042 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2592G>A (p.Gly864=) single nucleotide variant not provided [RCV002839443] Chr9:138023335 [GRCh38]
Chr9:140917787 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2161-6A>C single nucleotide variant not provided [RCV002862630] Chr9:138013123 [GRCh38]
Chr9:140907575 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2267+11T>A single nucleotide variant not provided [RCV002816545] Chr9:138013246 [GRCh38]
Chr9:140907698 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2160+9C>T single nucleotide variant not provided [RCV002996050] Chr9:138010086 [GRCh38]
Chr9:140904538 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4759A>G (p.Ile1587Val) single nucleotide variant Inborn genetic diseases [RCV002794755] Chr9:138073572 [GRCh38]
Chr9:140968024 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4669-8A>C single nucleotide variant not provided [RCV002775985] Chr9:138069750 [GRCh38]
Chr9:140964202 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6179G>T (p.Arg2060Met) single nucleotide variant not provided [RCV003016699] Chr9:138120313 [GRCh38]
Chr9:141014765 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6965C>T (p.Ser2322Leu) single nucleotide variant Inborn genetic diseases [RCV002689306] Chr9:138121944 [GRCh38]
Chr9:141016396 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2696C>T (p.Pro899Leu) single nucleotide variant Inborn genetic diseases [RCV002794424] Chr9:138023439 [GRCh38]
Chr9:140917891 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.1606C>T (p.Leu536=) single nucleotide variant not provided [RCV003076716] Chr9:137975969 [GRCh38]
Chr9:140870421 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2817G>T (p.Arg939=) single nucleotide variant not provided [RCV002881486] Chr9:138023560 [GRCh38]
Chr9:140918012 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3080G>A (p.Cys1027Tyr) single nucleotide variant not provided [RCV002996327] Chr9:138024966 [GRCh38]
Chr9:140919418 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3052del (p.Arg1018fs) deletion not provided [RCV002967410] Chr9:138023794 [GRCh38]
Chr9:140918246 [GRCh37]
Chr9:9q34.3		 pathogenic
NM_000718.4(CACNA1B):c.6238+9G>A single nucleotide variant not provided [RCV002613393] Chr9:138120381 [GRCh38]
Chr9:141014833 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1925C>T (p.Pro642Leu) single nucleotide variant not provided [RCV002754900] Chr9:137986805 [GRCh38]
Chr9:140881257 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.1635C>A (p.Ser545=) single nucleotide variant not provided [RCV002755541] Chr9:137975998 [GRCh38]
Chr9:140870450 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1109G>A (p.Arg370His) single nucleotide variant not provided [RCV002681134] Chr9:137955736 [GRCh38]
Chr9:140850188 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3462G>A (p.Val1154=) single nucleotide variant not provided [RCV002615019] Chr9:138046952 [GRCh38]
Chr9:140941404 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2254A>G (p.Ile752Val) single nucleotide variant not provided [RCV002615792] Chr9:138013222 [GRCh38]
Chr9:140907674 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4074G>C (p.Leu1358=) single nucleotide variant not provided [RCV002904642] Chr9:138057837 [GRCh38]
Chr9:140952289 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4949+3G>A single nucleotide variant not provided [RCV002996346] Chr9:138075913 [GRCh38]
Chr9:140970365 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.622+2T>G single nucleotide variant not provided [RCV002838839] Chr9:137913273 [GRCh38]
Chr9:140807725 [GRCh37]
Chr9:9q34.3		 likely pathogenic
NM_000718.4(CACNA1B):c.6407G>A (p.Arg2136His) single nucleotide variant not provided [RCV003095760] Chr9:138120799 [GRCh38]
Chr9:141015251 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4749C>T (p.Tyr1583=) single nucleotide variant not provided [RCV003011772] Chr9:138073562 [GRCh38]
Chr9:140968014 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5769C>T (p.Gly1923=) single nucleotide variant not provided [RCV002970762] Chr9:138115671 [GRCh38]
Chr9:141010123 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6712del (p.Leu2238fs) deletion not provided [RCV003034929] Chr9:138121689 [GRCh38]
Chr9:141016141 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6295C>T (p.Arg2099Trp) single nucleotide variant Inborn genetic diseases [RCV002959259]|not provided [RCV002971629] Chr9:138120687 [GRCh38]
Chr9:141015139 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.1611G>T (p.Gly537=) single nucleotide variant not provided [RCV002862179] Chr9:137975974 [GRCh38]
Chr9:140870426 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5726G>A (p.Arg1909Gln) single nucleotide variant not provided [RCV002731224] Chr9:138115628 [GRCh38]
Chr9:141010080 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4791+9G>C single nucleotide variant not provided [RCV002863531] Chr9:138073613 [GRCh38]
Chr9:140968065 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2313G>C (p.Arg771=) single nucleotide variant not provided [RCV003034825] Chr9:138023056 [GRCh38]
Chr9:140917508 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2113C>T (p.Leu705=) single nucleotide variant not provided [RCV002908851] Chr9:138010030 [GRCh38]
Chr9:140904482 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.786C>T (p.Pro262=) single nucleotide variant not provided [RCV002616169] Chr9:137917251 [GRCh38]
Chr9:140811703 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6328C>T (p.Arg2110Trp) single nucleotide variant not provided [RCV002907701] Chr9:138120720 [GRCh38]
Chr9:141015172 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6341G>A (p.Arg2114Gln) single nucleotide variant not provided [RCV002613798] Chr9:138120733 [GRCh38]
Chr9:141015185 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5292G>C (p.Lys1764Asn) single nucleotide variant not provided [RCV002730648] Chr9:138102780 [GRCh38]
Chr9:140997232 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2856C>A (p.Gly952=) single nucleotide variant not provided [RCV002685997] Chr9:138023599 [GRCh38]
Chr9:140918051 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3186G>A (p.Arg1062=) single nucleotide variant CACNA1B-related condition [RCV003943649]|not provided [RCV002975007] Chr9:138025072 [GRCh38]
Chr9:140919524 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.966+15G>A single nucleotide variant not provided [RCV002995334] Chr9:137917446 [GRCh38]
Chr9:140811898 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.390+1_390+2insACGACACGGAGCCCTATTTCATCGGGATCTTTTGCTTCGAGGCAGGGATCAAAATCATCGCTCTGGGCTTTGTCTTCCACAAGGGCTCT insertion not provided [RCV002907969] Chr9:137879160..137879161 [GRCh38]
Chr9:140773612..140773613 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3593T>C (p.Met1198Thr) single nucleotide variant not provided [RCV002755899] Chr9:138047448 [GRCh38]
Chr9:140941900 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3414-9C>G single nucleotide variant not provided [RCV002967947] Chr9:138046895 [GRCh38]
Chr9:140941347 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.588G>A (p.Val196=) single nucleotide variant not provided [RCV003014883] Chr9:137913237 [GRCh38]
Chr9:140807689 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6976G>A (p.Ala2326Thr) single nucleotide variant not provided [RCV002616315] Chr9:138121955 [GRCh38]
Chr9:141016407 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5352C>T (p.Asn1784=) single nucleotide variant not provided [RCV002756106] Chr9:138105731 [GRCh38]
Chr9:141000183 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.390+1_390+2insACGACACGGAGCCCTA insertion not provided [RCV002975092] Chr9:137879160..137879161 [GRCh38]
Chr9:140773612..140773613 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4273A>G (p.Lys1425Glu) single nucleotide variant not provided [RCV002843319] Chr9:138058215 [GRCh38]
Chr9:140952667 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6973C>T (p.Arg2325Ter) single nucleotide variant not provided [RCV002820436] Chr9:138121952 [GRCh38]
Chr9:141016404 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5305C>T (p.Arg1769Ter) single nucleotide variant not provided [RCV002975977] Chr9:138102793 [GRCh38]
Chr9:140997245 [GRCh37]
Chr9:9q34.3		 pathogenic
NM_000718.4(CACNA1B):c.6748C>T (p.Pro2250Ser) single nucleotide variant not provided [RCV002740386] Chr9:138121727 [GRCh38]
Chr9:141016179 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5381C>T (p.Thr1794Met) single nucleotide variant not provided [RCV002638343] Chr9:138105760 [GRCh38]
Chr9:141000212 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2274G>A (p.Gln758=) single nucleotide variant not provided [RCV002913089] Chr9:138023017 [GRCh38]
Chr9:140917469 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2739G>A (p.Glu913=) single nucleotide variant not provided [RCV002662376] Chr9:138023482 [GRCh38]
Chr9:140917934 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2847C>A (p.Gly949=) single nucleotide variant not provided [RCV002593039] Chr9:138023590 [GRCh38]
Chr9:140918042 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1334-13C>T single nucleotide variant not provided [RCV002591065] Chr9:137971370 [GRCh38]
Chr9:140865822 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3429C>A (p.Cys1143Ter) single nucleotide variant not provided [RCV002848372] Chr9:138046919 [GRCh38]
Chr9:140941371 [GRCh37]
Chr9:9q34.3		 pathogenic
NM_000718.4(CACNA1B):c.4474-7C>T single nucleotide variant not provided [RCV002593198] Chr9:138059072 [GRCh38]
Chr9:140953524 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2839_2840delinsGT (p.Cys947Val) indel not provided [RCV002593204] Chr9:138023582..138023583 [GRCh38]
Chr9:140918034..140918035 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4245C>T (p.Ile1415=) single nucleotide variant not provided [RCV002662931] Chr9:138058187 [GRCh38]
Chr9:140952639 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4351C>T (p.Arg1451Trp) single nucleotide variant not provided [RCV002662538] Chr9:138058611 [GRCh38]
Chr9:140953063 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.1071-14C>A single nucleotide variant not provided [RCV002592836] Chr9:137955684 [GRCh38]
Chr9:140850136 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2851_2875del (p.Lys951fs) deletion not provided [RCV003036411] Chr9:138023592..138023616 [GRCh38]
Chr9:140918044..140918068 [GRCh37]
Chr9:9q34.3		 pathogenic
NM_000718.4(CACNA1B):c.2806C>A (p.Arg936Ser) single nucleotide variant not provided [RCV003053004] Chr9:138023549 [GRCh38]
Chr9:140918001 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.1770-4G>A single nucleotide variant not provided [RCV002949521] Chr9:137986409 [GRCh38]
Chr9:140880861 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1005C>T (p.Tyr335=) single nucleotide variant not provided [RCV002593423] Chr9:137952312 [GRCh38]
Chr9:140846764 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5220G>A (p.Ala1740=) single nucleotide variant not provided [RCV003002106] Chr9:138096609 [GRCh38]
Chr9:140991061 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2538C>T (p.Asp846=) single nucleotide variant not provided [RCV002927765] Chr9:138023281 [GRCh38]
Chr9:140917733 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6639C>T (p.Phe2213=) single nucleotide variant not provided [RCV002800517] Chr9:138121618 [GRCh38]
Chr9:141016070 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4803C>T (p.Tyr1601=) single nucleotide variant not provided [RCV002696290] Chr9:138074012 [GRCh38]
Chr9:140968464 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5902T>C (p.Ser1968Pro) single nucleotide variant not provided [RCV002825557] Chr9:138118070 [GRCh38]
Chr9:141012522 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5145G>A (p.Thr1715=) single nucleotide variant not provided [RCV002622817] Chr9:138096534 [GRCh38]
Chr9:140990986 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6936C>T (p.Asn2312=) single nucleotide variant not provided [RCV002800452] Chr9:138121915 [GRCh38]
Chr9:141016367 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6745G>A (p.Ala2249Thr) single nucleotide variant not provided [RCV002800379]|not specified [RCV003317622] Chr9:138121724 [GRCh38]
Chr9:141016176 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5320-13T>G single nucleotide variant not provided [RCV002618948] Chr9:138105686 [GRCh38]
Chr9:141000138 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2871G>A (p.Arg957=) single nucleotide variant not provided [RCV002909902] Chr9:138023614 [GRCh38]
Chr9:140918066 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5439GCA[1] (p.Gln1814del) microsatellite not provided [RCV002663008] Chr9:138112407..138112409 [GRCh38]
Chr9:141006859..141006861 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.978G>A (p.Ala326=) single nucleotide variant not provided [RCV002637676] Chr9:137952285 [GRCh38]
Chr9:140846737 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5899C>T (p.Arg1967Trp) single nucleotide variant not provided [RCV002572052] Chr9:138118067 [GRCh38]
Chr9:141012519 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6304C>T (p.Arg2102Ter) single nucleotide variant not provided [RCV002593330] Chr9:138120696 [GRCh38]
Chr9:141015148 [GRCh37]
Chr9:9q34.3		 pathogenic
NM_000718.4(CACNA1B):c.3414-16G>C single nucleotide variant not provided [RCV003054416] Chr9:138046888 [GRCh38]
Chr9:140941340 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3069-18G>A single nucleotide variant not provided [RCV002571045] Chr9:138024937 [GRCh38]
Chr9:140919389 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6479C>A (p.Pro2160His) single nucleotide variant not provided [RCV002620390] Chr9:138120871 [GRCh38]
Chr9:141015323 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3438C>T (p.Ile1146=) single nucleotide variant not provided [RCV002640498] Chr9:138046928 [GRCh38]
Chr9:140941380 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2938C>T (p.Arg980Trp) single nucleotide variant not provided [RCV002662845] Chr9:138023681 [GRCh38]
Chr9:140918133 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3320G>A (p.Gly1107Glu) single nucleotide variant not provided [RCV002706394] Chr9:138043807 [GRCh38]
Chr9:140938259 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.967-4C>T single nucleotide variant not provided [RCV002622449] Chr9:137952270 [GRCh38]
Chr9:140846722 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.768C>T (p.Asn256=) single nucleotide variant not provided [RCV002953003] Chr9:137914799 [GRCh38]
Chr9:140809251 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3363C>T (p.Pro1121=) single nucleotide variant not provided [RCV002571810] Chr9:138043850 [GRCh38]
Chr9:140938302 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2369A>T (p.Glu790Val) single nucleotide variant not provided [RCV002867016] Chr9:138023112 [GRCh38]
Chr9:140917564 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6022G>A (p.Glu2008Lys) single nucleotide variant CACNA1B-related condition [RCV003916662]|not provided [RCV002953510] Chr9:138118760 [GRCh38]
Chr9:141013212 [GRCh37]
Chr9:9q34.3		 benign|likely benign
NM_000718.4(CACNA1B):c.1185G>A (p.Ala395=) single nucleotide variant not provided [RCV002914072] Chr9:137955812 [GRCh38]
Chr9:140850264 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3808-19T>C single nucleotide variant not provided [RCV002590496] Chr9:138053827 [GRCh38]
Chr9:140948279 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2268-7C>T single nucleotide variant not provided [RCV002658880] Chr9:138023004 [GRCh38]
Chr9:140917456 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6947G>A (p.Cys2316Tyr) single nucleotide variant not provided [RCV002846461] Chr9:138121926 [GRCh38]
Chr9:141016378 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.623-13G>A single nucleotide variant not provided [RCV002638758] Chr9:137914641 [GRCh38]
Chr9:140809093 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1071-18C>T single nucleotide variant not provided [RCV003017914] Chr9:137955680 [GRCh38]
Chr9:140850132 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6121C>T (p.Arg2041Cys) single nucleotide variant not provided [RCV002637121] Chr9:138120255 [GRCh38]
Chr9:141014707 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2122G>A (p.Ala708Thr) single nucleotide variant not provided [RCV002659406] Chr9:138010039 [GRCh38]
Chr9:140904491 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.7020G>A (p.Ter2340=) single nucleotide variant not provided [RCV002976205] Chr9:138121999 [GRCh38]
Chr9:141016451 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3236A>G (p.His1079Arg) single nucleotide variant not provided [RCV003036154] Chr9:138025122 [GRCh38]
Chr9:140919574 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2109C>T (p.Val703=) single nucleotide variant not provided [RCV002976583] Chr9:138010026 [GRCh38]
Chr9:140904478 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.390+1_390+2insACGACACGGAGCCCTATTTCATCG microsatellite not provided [RCV002886563] Chr9:137879159..137879160 [GRCh38]
Chr9:140773611..140773612 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.977C>T (p.Ala326Val) single nucleotide variant not provided [RCV002999270] Chr9:137952284 [GRCh38]
Chr9:140846736 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3969-9C>T single nucleotide variant not provided [RCV002694927] Chr9:138057723 [GRCh38]
Chr9:140952175 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6236G>A (p.Gly2079Asp) single nucleotide variant not provided [RCV002590492] Chr9:138120370 [GRCh38]
Chr9:141014822 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2507C>T (p.Pro836Leu) single nucleotide variant not provided [RCV002735349] Chr9:138023250 [GRCh38]
Chr9:140917702 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.1854G>A (p.Leu618=) single nucleotide variant not provided [RCV002638949] Chr9:137986497 [GRCh38]
Chr9:140880949 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5914-17G>A single nucleotide variant not provided [RCV002690779] Chr9:138118635 [GRCh38]
Chr9:141013087 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1187-5C>T single nucleotide variant not provided [RCV002923550] Chr9:137956766 [GRCh38]
Chr9:140851218 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1134G>A (p.Gln378=) single nucleotide variant not provided [RCV002735161] Chr9:137955761 [GRCh38]
Chr9:140850213 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5342C>T (p.Pro1781Leu) single nucleotide variant not provided [RCV002795377] Chr9:138105721 [GRCh38]
Chr9:141000173 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.1257G>A (p.Ala419=) single nucleotide variant not provided [RCV002886031] Chr9:137957611 [GRCh38]
Chr9:140852063 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2899C>T (p.Arg967Trp) single nucleotide variant not provided [RCV002979175] Chr9:138023642 [GRCh38]
Chr9:140918094 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2265C>T (p.Ala755=) single nucleotide variant CACNA1B-related condition [RCV003926720]|not provided [RCV002591790] Chr9:138013233 [GRCh38]
Chr9:140907685 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2678G>A (p.Ser893Asn) single nucleotide variant not provided [RCV002756977] Chr9:138023421 [GRCh38]
Chr9:140917873 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.775+10G>A single nucleotide variant not provided [RCV002976341] Chr9:137914816 [GRCh38]
Chr9:140809268 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.6149ACC[6] (p.His2054_Arg2055insHis) microsatellite not provided [RCV003078485] Chr9:138120281..138120282 [GRCh38]
Chr9:141014733..141014734 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4188C>T (p.Tyr1396=) single nucleotide variant not provided [RCV002621052] Chr9:138058130 [GRCh38]
Chr9:140952582 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2092+19G>A single nucleotide variant not provided [RCV002638935] Chr9:138006903 [GRCh38]
Chr9:140901355 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5641C>T (p.Leu1881Phe) single nucleotide variant not provided [RCV002591239] Chr9:138114482 [GRCh38]
Chr9:141008934 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4308+12C>T single nucleotide variant not provided [RCV002705514] Chr9:138058262 [GRCh38]
Chr9:140952714 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3585C>T (p.Thr1195=) single nucleotide variant not provided [RCV002636257] Chr9:138047440 [GRCh38]
Chr9:140941892 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3197G>A (p.Arg1066His) single nucleotide variant not provided [RCV003019355] Chr9:138025083 [GRCh38]
Chr9:140919535 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3533C>T (p.Pro1178Leu) single nucleotide variant not provided [RCV003019888] Chr9:138047023 [GRCh38]
Chr9:140941475 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4668+11_4668+22del deletion not provided [RCV003017807] Chr9:138059748..138059759 [GRCh38]
Chr9:140954200..140954211 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1543+15C>T single nucleotide variant not provided [RCV002736493] Chr9:137971607 [GRCh38]
Chr9:140866059 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6239-14T>C single nucleotide variant not provided [RCV002866973] Chr9:138120617 [GRCh38]
Chr9:141015069 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4306G>A (p.Glu1436Lys) single nucleotide variant not provided [RCV002690615] Chr9:138058248 [GRCh38]
Chr9:140952700 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3612C>T (p.Asp1204=) single nucleotide variant not provided [RCV002948500] Chr9:138049217 [GRCh38]
Chr9:140943669 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1839C>G (p.Leu613=) single nucleotide variant not provided [RCV002975890] Chr9:137986482 [GRCh38]
Chr9:140880934 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6030+7G>T single nucleotide variant not provided [RCV002705252] Chr9:138118775 [GRCh38]
Chr9:141013227 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6617C>T (p.Ala2206Val) single nucleotide variant not provided [RCV002846371] Chr9:138121596 [GRCh38]
Chr9:141016048 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5320-3del deletion not provided [RCV003080329] Chr9:138105696 [GRCh38]
Chr9:141000148 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.390+1_390+2insACGACACGGAGCCCTATTTCATCGGGATCTTTTGCTTCGAGGCAGGGATCAAAATCATCGCTC insertion not provided [RCV002913152] Chr9:137879160..137879161 [GRCh38]
Chr9:140773612..140773613 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.1521G>A (p.Pro507=) single nucleotide variant not provided [RCV002949506] Chr9:137971570 [GRCh38]
Chr9:140866022 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2121C>T (p.Ile707=) single nucleotide variant not provided [RCV002706013] Chr9:138010038 [GRCh38]
Chr9:140904490 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4106+6T>G single nucleotide variant not provided [RCV003054670] Chr9:138057875 [GRCh38]
Chr9:140952327 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4392G>A (p.Thr1464=) single nucleotide variant not provided [RCV002999148] Chr9:138058652 [GRCh38]
Chr9:140953104 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6248G>A (p.Ser2083Asn) single nucleotide variant not provided [RCV002910081] Chr9:138120640 [GRCh38]
Chr9:141015092 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.1524G>T (p.Arg508=) single nucleotide variant not provided [RCV002639547] Chr9:137971573 [GRCh38]
Chr9:140866025 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3520C>T (p.Arg1174Cys) single nucleotide variant Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV003143492]|not provided [RCV003080936] Chr9:138047010 [GRCh38]
Chr9:140941462 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4589A>G (p.Tyr1530Cys) single nucleotide variant not provided [RCV003020171] Chr9:138059658 [GRCh38]
Chr9:140954110 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5457G>A (p.Ala1819=) single nucleotide variant not provided [RCV002979959] Chr9:138112426 [GRCh38]
Chr9:141006878 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5992C>T (p.Arg1998Ter) single nucleotide variant not provided [RCV002999179] Chr9:138118730 [GRCh38]
Chr9:141013182 [GRCh37]
Chr9:9q34.3		 pathogenic
NM_000718.4(CACNA1B):c.2912G>A (p.Ser971Asn) single nucleotide variant not provided [RCV003036234] Chr9:138023655 [GRCh38]
Chr9:140918107 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6438C>T (p.Ser2146=) single nucleotide variant not provided [RCV002948955] Chr9:138120830 [GRCh38]
Chr9:141015282 [GRCh37]
Chr9:9q34.3		 benign|likely benign
NM_000718.4(CACNA1B):c.4491T>C (p.Tyr1497=) single nucleotide variant not provided [RCV002923245] Chr9:138059096 [GRCh38]
Chr9:140953548 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2262C>T (p.Ile754=) single nucleotide variant not provided [RCV002735567] Chr9:138013230 [GRCh38]
Chr9:140907682 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5944C>T (p.Arg1982Trp) single nucleotide variant not provided [RCV002999480] Chr9:138118682 [GRCh38]
Chr9:141013134 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2642C>T (p.Ala881Val) single nucleotide variant not provided [RCV002706063] Chr9:138023385 [GRCh38]
Chr9:140917837 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2247C>T (p.Ala749=) single nucleotide variant not provided [RCV002999505] Chr9:138013215 [GRCh38]
Chr9:140907667 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4710T>C (p.Phe1570=) single nucleotide variant not provided [RCV002736669] Chr9:138073523 [GRCh38]
Chr9:140967975 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1334-11C>T single nucleotide variant not provided [RCV003054152] Chr9:137971372 [GRCh38]
Chr9:140865824 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.488G>A (p.Arg163Gln) single nucleotide variant Inborn genetic diseases [RCV002739150] Chr9:137882841 [GRCh38]
Chr9:140777293 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2924C>A (p.Pro975Gln) single nucleotide variant Inborn genetic diseases [RCV002690596]|not provided [RCV002690595] Chr9:138023667 [GRCh38]
Chr9:140918119 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2248G>A (p.Ala750Thr) single nucleotide variant Inborn genetic diseases [RCV002739152] Chr9:138013216 [GRCh38]
Chr9:140907668 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4954G>A (p.Ala1652Thr) single nucleotide variant not provided [RCV002662351] Chr9:138078118 [GRCh38]
Chr9:140972570 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4839C>T (p.Tyr1613=) single nucleotide variant not provided [RCV002695717] Chr9:138074048 [GRCh38]
Chr9:140968500 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4581G>T (p.Val1527=) single nucleotide variant not provided [RCV002846872] Chr9:138059186 [GRCh38]
Chr9:140953638 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4464G>A (p.Leu1488=) single nucleotide variant not provided [RCV002662357] Chr9:138058724 [GRCh38]
Chr9:140953176 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4425C>T (p.Tyr1475=) single nucleotide variant not provided [RCV002591092] Chr9:138058685 [GRCh38]
Chr9:140953137 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4474-13A>G single nucleotide variant not provided [RCV003053965] Chr9:138059066 [GRCh38]
Chr9:140953518 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2025G>T (p.Ser675=) single nucleotide variant not provided [RCV002705722] Chr9:138006817 [GRCh38]
Chr9:140901269 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4539G>A (p.Met1513Ile) single nucleotide variant not provided [RCV002592174] Chr9:138059144 [GRCh38]
Chr9:140953596 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.1822T>C (p.Ser608Pro) single nucleotide variant not provided [RCV002695374] Chr9:137986465 [GRCh38]
Chr9:140880917 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2379C>T (p.Pro793=) single nucleotide variant not provided [RCV002639308] Chr9:138023122 [GRCh38]
Chr9:140917574 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4373A>C (p.Gln1458Pro) single nucleotide variant Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV003146715]|not provided [RCV003002307] Chr9:138058633 [GRCh38]
Chr9:140953085 [GRCh37]
Chr9:9q34.3		 likely benign|uncertain significance
NM_000718.4(CACNA1B):c.1161G>A (p.Gly387=) single nucleotide variant not provided [RCV003017921] Chr9:137955788 [GRCh38]
Chr9:140850240 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3388A>G (p.Met1130Val) single nucleotide variant not provided [RCV002695046] Chr9:138043875 [GRCh38]
Chr9:140938327 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6034G>A (p.Val2012Ile) single nucleotide variant not provided [RCV002795398] Chr9:138120168 [GRCh38]
Chr9:141014620 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5491A>C (p.Asn1831His) single nucleotide variant not provided [RCV002846428] Chr9:138112460 [GRCh38]
Chr9:141006912 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5429-8T>C single nucleotide variant not provided [RCV002569898] Chr9:138112390 [GRCh38]
Chr9:141006842 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6501C>T (p.Ser2167=) single nucleotide variant CACNA1B-related condition [RCV003926673]|not provided [RCV003081280] Chr9:138121480 [GRCh38]
Chr9:141015932 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.801C>A (p.Pro267=) single nucleotide variant not provided [RCV002999202] Chr9:137917266 [GRCh38]
Chr9:140811718 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1346C>T (p.Ala449Val) single nucleotide variant not provided [RCV002824119] Chr9:137971395 [GRCh38]
Chr9:140865847 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3364C>T (p.Arg1122Trp) single nucleotide variant not provided [RCV002639349] Chr9:138043851 [GRCh38]
Chr9:140938303 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5571T>C (p.Ala1857=) single nucleotide variant not provided [RCV002636644] Chr9:138114412 [GRCh38]
Chr9:141008864 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.967-8G>C single nucleotide variant not provided [RCV002590452] Chr9:137952266 [GRCh38]
Chr9:140846718 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2713G>A (p.Glu905Lys) single nucleotide variant Inborn genetic diseases [RCV003161998]|not provided [RCV002620640] Chr9:138023456 [GRCh38]
Chr9:140917908 [GRCh37]
Chr9:9q34.3		 likely benign|uncertain significance
NM_000718.4(CACNA1B):c.623-13G>T single nucleotide variant not provided [RCV002639546] Chr9:137914641 [GRCh38]
Chr9:140809093 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6176G>A (p.Arg2059His) single nucleotide variant Inborn genetic diseases [RCV002757209] Chr9:138120310 [GRCh38]
Chr9:141014762 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2263G>A (p.Ala755Thr) single nucleotide variant not provided [RCV002570995] Chr9:138013231 [GRCh38]
Chr9:140907683 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6679C>T (p.Arg2227Trp) single nucleotide variant not provided [RCV002695863] Chr9:138121658 [GRCh38]
Chr9:141016110 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3226A>G (p.Thr1076Ala) single nucleotide variant Inborn genetic diseases [RCV002739099] Chr9:138025112 [GRCh38]
Chr9:140919564 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1384T>C (p.Ser462Pro) single nucleotide variant Inborn genetic diseases [RCV002739114] Chr9:137971433 [GRCh38]
Chr9:140865885 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6928G>A (p.Val2310Met) single nucleotide variant not provided [RCV003002706] Chr9:138121907 [GRCh38]
Chr9:141016359 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5428+17C>T single nucleotide variant not provided [RCV002781385] Chr9:138105824 [GRCh38]
Chr9:141000276 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2531G>T (p.Gly844Val) single nucleotide variant not provided [RCV003001836] Chr9:138023274 [GRCh38]
Chr9:140917726 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4721G>A (p.Arg1574Gln) single nucleotide variant not provided [RCV002691146] Chr9:138073534 [GRCh38]
Chr9:140967986 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3007G>C (p.Glu1003Gln) single nucleotide variant Inborn genetic diseases [RCV002782203] Chr9:138023750 [GRCh38]
Chr9:140918202 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4751C>T (p.Thr1584Ile) single nucleotide variant not provided [RCV002976346] Chr9:138073564 [GRCh38]
Chr9:140968016 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.1543+4C>T single nucleotide variant not provided [RCV002976335] Chr9:137971596 [GRCh38]
Chr9:140866048 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.390+1_390+2insACGACACGGAGCCCTATTTCATCGGGATCTTTTGCTTCGAGGCAGGGATCAAAATCATCGCTCTGGGCTTTGTCT insertion not provided [RCV002885784] Chr9:137879160..137879161 [GRCh38]
Chr9:140773612..140773613 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5222+12GTG[3] microsatellite not provided [RCV002870940] Chr9:138096622..138096623 [GRCh38]
Chr9:140991074..140991075 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4080A>C (p.Thr1360=) single nucleotide variant not provided [RCV002735590] Chr9:138057843 [GRCh38]
Chr9:140952295 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6269C>T (p.Pro2090Leu) single nucleotide variant not provided [RCV002796429] Chr9:138120661 [GRCh38]
Chr9:141015113 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6709G>A (p.Ala2237Thr) single nucleotide variant Inborn genetic diseases [RCV003089452]|not provided [RCV003078532] Chr9:138121688 [GRCh38]
Chr9:141016140 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.1334-8C>A single nucleotide variant not provided [RCV002979866] Chr9:137971375 [GRCh38]
Chr9:140865827 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1197G>A (p.Met399Ile) single nucleotide variant not provided [RCV002927114] Chr9:137956781 [GRCh38]
Chr9:140851233 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6984C>T (p.His2328=) single nucleotide variant not provided [RCV003000061] Chr9:138121963 [GRCh38]
Chr9:141016415 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1787G>A (p.Arg596Gln) single nucleotide variant not provided [RCV002658611] Chr9:137986430 [GRCh38]
Chr9:140880882 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6172C>T (p.Arg2058Cys) single nucleotide variant not provided [RCV003056517] Chr9:138120306 [GRCh38]
Chr9:141014758 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3280G>A (p.Val1094Ile) single nucleotide variant not provided [RCV002574526] Chr9:138025166 [GRCh38]
Chr9:140919618 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3052C>T (p.Arg1018Trp) single nucleotide variant not provided [RCV002643963] Chr9:138023795 [GRCh38]
Chr9:140918247 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4950-6_4950-4del microsatellite not provided [RCV002596109] Chr9:138078103..138078105 [GRCh38]
Chr9:140972555..140972557 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2291C>G (p.Ala764Gly) single nucleotide variant not provided [RCV002594612] Chr9:138023034 [GRCh38]
Chr9:140917486 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2769C>T (p.Ser923=) single nucleotide variant not provided [RCV002666843] Chr9:138023512 [GRCh38]
Chr9:140917964 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3674T>C (p.Ile1225Thr) single nucleotide variant not provided [RCV003082591] Chr9:138049279 [GRCh38]
Chr9:140943731 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.7006G>C (p.Asp2336His) single nucleotide variant not provided [RCV002710794] Chr9:138121985 [GRCh38]
Chr9:141016437 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3222G>C (p.Pro1074=) single nucleotide variant not provided [RCV002576398] Chr9:138025108 [GRCh38]
Chr9:140919560 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2247C>G (p.Ala749=) single nucleotide variant not provided [RCV002626188] Chr9:138013215 [GRCh38]
Chr9:140907667 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5858C>T (p.Pro1953Leu) single nucleotide variant Inborn genetic diseases [RCV003367992]|not provided [RCV003084724] Chr9:138118026 [GRCh38]
Chr9:141012478 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3350T>C (p.Met1117Thr) single nucleotide variant not provided [RCV003026259] Chr9:138043837 [GRCh38]
Chr9:140938289 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2269A>G (p.Arg757Gly) single nucleotide variant not provided [RCV002914798] Chr9:138023012 [GRCh38]
Chr9:140917464 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2721C>G (p.Gly907=) single nucleotide variant not provided [RCV002594213] Chr9:138023464 [GRCh38]
Chr9:140917916 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3480C>T (p.Ile1160=) single nucleotide variant not provided [RCV002982740] Chr9:138046970 [GRCh38]
Chr9:140941422 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.5860C>A (p.Pro1954Thr) single nucleotide variant not provided [RCV003005279] Chr9:138118028 [GRCh38]
Chr9:141012480 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5913+20A>G single nucleotide variant not provided [RCV003057576] Chr9:138118101 [GRCh38]
Chr9:141012553 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2825A>C (p.Asp942Ala) single nucleotide variant not provided [RCV002667993] Chr9:138023568 [GRCh38]
Chr9:140918020 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4858-7A>T single nucleotide variant not provided [RCV002745737] Chr9:138075812 [GRCh38]
Chr9:140970264 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3604-20C>T single nucleotide variant not provided [RCV002805920] Chr9:138049189 [GRCh38]
Chr9:140943641 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1194C>T (p.Val398=) single nucleotide variant not provided [RCV002890260] Chr9:137956778 [GRCh38]
Chr9:140851230 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4473+8G>T single nucleotide variant not provided [RCV003085322] Chr9:138058741 [GRCh38]
Chr9:140953193 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1071-15G>T single nucleotide variant not provided [RCV002830019] Chr9:137955683 [GRCh38]
Chr9:140850135 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1974+9C>T single nucleotide variant not provided [RCV002645715] Chr9:137986863 [GRCh38]
Chr9:140881315 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3006G>A (p.Thr1002=) single nucleotide variant not provided [RCV003005357] Chr9:138023749 [GRCh38]
Chr9:140918201 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3543C>T (p.Asn1181=) single nucleotide variant not provided [RCV002700813] Chr9:138047033 [GRCh38]
Chr9:140941485 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.1902-8T>C single nucleotide variant not provided [RCV003007732] Chr9:137986774 [GRCh38]
Chr9:140881226 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6207G>A (p.Lys2069=) single nucleotide variant not provided [RCV002766847] Chr9:138120341 [GRCh38]
Chr9:141014793 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5064C>T (p.Phe1688=) single nucleotide variant not provided [RCV002576355] Chr9:138078228 [GRCh38]
Chr9:140972680 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6788G>A (p.Arg2263His) single nucleotide variant Inborn genetic diseases [RCV002767784] Chr9:138121767 [GRCh38]
Chr9:141016219 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6272C>T (p.Pro2091Leu) single nucleotide variant not provided [RCV002933338] Chr9:138120664 [GRCh38]
Chr9:141015116 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3295G>A (p.Val1099Met) single nucleotide variant Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV003146685]|not provided [RCV002914979] Chr9:138043782 [GRCh38]
Chr9:140938234 [GRCh37]
Chr9:9q34.3		 benign|uncertain significance
NM_000718.4(CACNA1B):c.3045G>C (p.Lys1015Asn) single nucleotide variant not provided [RCV002741917] Chr9:138023788 [GRCh38]
Chr9:140918240 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4674+12G>A single nucleotide variant not provided [RCV002626352] Chr9:138069775 [GRCh38]
Chr9:140964227 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3240C>T (p.Ile1080=) single nucleotide variant not provided [RCV002597198] Chr9:138025126 [GRCh38]
Chr9:140919578 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6699C>T (p.Ser2233=) single nucleotide variant not provided [RCV003085592] Chr9:138121678 [GRCh38]
Chr9:141016130 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5429-15A>G single nucleotide variant not provided [RCV002805908] Chr9:138112383 [GRCh38]
Chr9:141006835 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6082C>T (p.Arg2028Trp) single nucleotide variant not provided [RCV002741941] Chr9:138120216 [GRCh38]
Chr9:141014668 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6174C>T (p.Arg2058=) single nucleotide variant not provided [RCV003041122] Chr9:138120308 [GRCh38]
Chr9:141014760 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5674C>T (p.Pro1892Ser) single nucleotide variant not provided [RCV002710163] Chr9:138115576 [GRCh38]
Chr9:141010028 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5465G>A (p.Arg1822Lys) single nucleotide variant not provided [RCV002667287] Chr9:138112434 [GRCh38]
Chr9:141006886 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4792-13C>A single nucleotide variant not provided [RCV002596554] Chr9:138073988 [GRCh38]
Chr9:140968440 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5724C>T (p.Ala1908=) single nucleotide variant not provided [RCV003041685] Chr9:138115626 [GRCh38]
Chr9:141010078 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1734G>T (p.Arg578=) single nucleotide variant not provided [RCV002917494] Chr9:137984215 [GRCh38]
Chr9:140878667 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3596T>G (p.Val1199Gly) single nucleotide variant not provided [RCV003008050] Chr9:138047451 [GRCh38]
Chr9:140941903 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5931G>A (p.Met1977Ile) single nucleotide variant not provided [RCV003057375] Chr9:138118669 [GRCh38]
Chr9:141013121 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5537-20A>G single nucleotide variant not provided [RCV002625711] Chr9:138114358 [GRCh38]
Chr9:141008810 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3373G>A (p.Val1125Ile) single nucleotide variant not provided [RCV002931847] Chr9:138043860 [GRCh38]
Chr9:140938312 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6490-13C>T single nucleotide variant not provided [RCV002663284] Chr9:138121456 [GRCh38]
Chr9:141015908 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2267+16G>A single nucleotide variant not provided [RCV002741744] Chr9:138013251 [GRCh38]
Chr9:140907703 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3541A>G (p.Asn1181Asp) single nucleotide variant not provided [RCV002699984] Chr9:138047031 [GRCh38]
Chr9:140941483 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4279A>T (p.Met1427Leu) single nucleotide variant not provided [RCV003022774] Chr9:138058221 [GRCh38]
Chr9:140952673 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2796C>T (p.Pro932=) single nucleotide variant not provided [RCV002982827] Chr9:138023539 [GRCh38]
Chr9:140917991 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4949+8_4949+10del microsatellite not provided [RCV002700471] Chr9:138075914..138075916 [GRCh38]
Chr9:140970366..140970368 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3058C>T (p.His1020Tyr) single nucleotide variant not provided [RCV003042179] Chr9:138023801 [GRCh38]
Chr9:140918253 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5482G>A (p.Val1828Met) single nucleotide variant not provided [RCV003022570] Chr9:138112451 [GRCh38]
Chr9:141006903 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6021C>T (p.Ala2007=) single nucleotide variant not provided [RCV003082734] Chr9:138118759 [GRCh38]
Chr9:141013211 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6813C>T (p.His2271=) single nucleotide variant not provided [RCV002595902] Chr9:138121792 [GRCh38]
Chr9:141016244 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1024A>G (p.Ile342Val) single nucleotide variant not provided [RCV002710273] Chr9:137952331 [GRCh38]
Chr9:140846783 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3710+13C>T single nucleotide variant not provided [RCV002800786] Chr9:138049328 [GRCh38]
Chr9:140943780 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4326C>T (p.Phe1442=) single nucleotide variant CACNA1B-related condition [RCV003898616]|not provided [RCV002928600] Chr9:138058586 [GRCh38]
Chr9:140953038 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5819G>A (p.Gly1940Asp) single nucleotide variant Inborn genetic diseases [RCV002916176] Chr9:138117987 [GRCh38]
Chr9:141012439 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5855G>T (p.Arg1952Met) single nucleotide variant not provided [RCV002624807] Chr9:138118023 [GRCh38]
Chr9:141012475 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2425A>G (p.Met809Val) single nucleotide variant not provided [RCV002828552] Chr9:138023168 [GRCh38]
Chr9:140917620 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2708G>T (p.Arg903Leu) single nucleotide variant Inborn genetic diseases [RCV002930331] Chr9:138023451 [GRCh38]
Chr9:140917903 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.979G>T (p.Ala327Ser) single nucleotide variant not provided [RCV002593722] Chr9:137952286 [GRCh38]
Chr9:140846738 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.390+1_390+2insACGACACGGAGCCCTATTTCATCGGGATCTTTTGCTTCGAGGCAGGGATCAAAATCATCGCTCTGGGCTTTGTC insertion not provided [RCV002801131] Chr9:137879160..137879161 [GRCh38]
Chr9:140773612..140773613 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4481A>C (p.Asp1494Ala) single nucleotide variant not provided [RCV003041613] Chr9:138059086 [GRCh38]
Chr9:140953538 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.1044C>T (p.Leu348=) single nucleotide variant not provided [RCV002786188] Chr9:137952351 [GRCh38]
Chr9:140846803 [GRCh37]
Chr9:9q34.3		 benign|likely benign
NM_000718.4(CACNA1B):c.6470A>G (p.Glu2157Gly) single nucleotide variant Inborn genetic diseases [RCV003269489]|not provided [RCV002623316] Chr9:138120862 [GRCh38]
Chr9:141015314 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4490A>G (p.Tyr1497Cys) single nucleotide variant not provided [RCV002800885] Chr9:138059095 [GRCh38]
Chr9:140953547 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6868C>T (p.Arg2290Cys) single nucleotide variant Inborn genetic diseases [RCV003340502]|not provided [RCV002572276] Chr9:138121847 [GRCh38]
Chr9:141016299 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2267C>T (p.Ala756Val) single nucleotide variant not provided [RCV002982757] Chr9:138013235 [GRCh38]
Chr9:140907687 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6640G>A (p.Ala2214Thr) single nucleotide variant not provided [RCV002800668] Chr9:138121619 [GRCh38]
Chr9:141016071 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4377G>A (p.Ser1459=) single nucleotide variant not provided [RCV002928264] Chr9:138058637 [GRCh38]
Chr9:140953089 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.4308+9A>T single nucleotide variant not provided [RCV002801181] Chr9:138058259 [GRCh38]
Chr9:140952711 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5449T>C (p.Cys1817Arg) single nucleotide variant not provided [RCV003041922] Chr9:138112418 [GRCh38]
Chr9:141006870 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.1692G>A (p.Ala564=) single nucleotide variant not provided [RCV002594529] Chr9:137984173 [GRCh38]
Chr9:140878625 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6816C>T (p.Ala2272=) single nucleotide variant not provided [RCV003005136] Chr9:138121795 [GRCh38]
Chr9:141016247 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5778-14C>A single nucleotide variant not provided [RCV002573787] Chr9:138117932 [GRCh38]
Chr9:141012384 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5507C>G (p.Thr1836Ser) single nucleotide variant not provided [RCV002596532] Chr9:138112476 [GRCh38]
Chr9:141006928 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2579C>T (p.Thr860Ile) single nucleotide variant not provided [RCV002894893] Chr9:138023322 [GRCh38]
Chr9:140917774 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4974C>T (p.His1658=) single nucleotide variant not provided [RCV003082192] Chr9:138078138 [GRCh38]
Chr9:140972590 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4370G>A (p.Arg1457Gln) single nucleotide variant not provided [RCV002594972] Chr9:138058630 [GRCh38]
Chr9:140953082 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.1237T>C (p.Leu413=) single nucleotide variant not provided [RCV002625473] Chr9:137956821 [GRCh38]
Chr9:140851273 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3604-18T>A single nucleotide variant not provided [RCV002576195] Chr9:138049191 [GRCh38]
Chr9:140943643 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5803G>A (p.Glu1935Lys) single nucleotide variant Inborn genetic diseases [RCV002827990] Chr9:138117971 [GRCh38]
Chr9:141012423 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5274G>A (p.Pro1758=) single nucleotide variant not provided [RCV002625506] Chr9:138102762 [GRCh38]
Chr9:140997214 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5638G>A (p.Gly1880Ser) single nucleotide variant Inborn genetic diseases [RCV003250766]|not provided [RCV003082761] Chr9:138114479 [GRCh38]
Chr9:141008931 [GRCh37]
Chr9:9q34.3		 likely benign|uncertain significance
NM_000718.4(CACNA1B):c.6830_6831delinsTG (p.Thr2277Met) indel not provided [RCV002596013] Chr9:138121809..138121810 [GRCh38]
Chr9:141016261..141016262 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5659G>T (p.Val1887Leu) single nucleotide variant not provided [RCV003041554] Chr9:138115561 [GRCh38]
Chr9:141010013 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2595C>A (p.Asp865Glu) single nucleotide variant not provided [RCV002663396] Chr9:138023338 [GRCh38]
Chr9:140917790 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4602C>T (p.Ala1534=) single nucleotide variant not provided [RCV003006380] Chr9:138059671 [GRCh38]
Chr9:140954123 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5351A>G (p.Asn1784Ser) single nucleotide variant not provided [RCV002791090] Chr9:138105730 [GRCh38]
Chr9:141000182 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4179C>T (p.Ser1393=) single nucleotide variant not provided [RCV002595788] Chr9:138058121 [GRCh38]
Chr9:140952573 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1186+11G>A single nucleotide variant not provided [RCV002791102] Chr9:137955824 [GRCh38]
Chr9:140850276 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3287-13T>C single nucleotide variant not provided [RCV002572915] Chr9:138043761 [GRCh38]
Chr9:140938213 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2385G>C (p.Glu795Asp) single nucleotide variant Inborn genetic diseases [RCV003170976]|not provided [RCV003041355] Chr9:138023128 [GRCh38]
Chr9:140917580 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4962G>A (p.Gly1654=) single nucleotide variant not provided [RCV002917883] Chr9:138078126 [GRCh38]
Chr9:140972578 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.545C>T (p.Ala182Val) single nucleotide variant not provided [RCV002917908] Chr9:137913194 [GRCh38]
Chr9:140807646 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.1543+9C>T single nucleotide variant not provided [RCV002594905] Chr9:137971601 [GRCh38]
Chr9:140866053 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1766C>T (p.Thr589Met) single nucleotide variant not provided [RCV002890216] Chr9:137984247 [GRCh38]
Chr9:140878699 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2881G>A (p.Gly961Ser) single nucleotide variant not provided [RCV002954408] Chr9:138023624 [GRCh38]
Chr9:140918076 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2268-6C>T single nucleotide variant not provided [RCV003023663] Chr9:138023005 [GRCh38]
Chr9:140917457 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6173G>A (p.Arg2058His) single nucleotide variant Inborn genetic diseases [RCV003348851]|Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV003146580]|not provided [RCV002576057] Chr9:138120307 [GRCh38]
Chr9:141014759 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.1770-19C>G single nucleotide variant not provided [RCV002850972] Chr9:137986394 [GRCh38]
Chr9:140880846 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6116C>T (p.Pro2039Leu) single nucleotide variant Inborn genetic diseases [RCV003250511]|not provided [RCV002572275] Chr9:138120250 [GRCh38]
Chr9:141014702 [GRCh37]
Chr9:9q34.3		 likely benign|uncertain significance
NM_000718.4(CACNA1B):c.2239A>G (p.Met747Val) single nucleotide variant not provided [RCV002957318] Chr9:138013207 [GRCh38]
Chr9:140907659 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6711C>G (p.Ala2237=) single nucleotide variant not provided [RCV003024649] Chr9:138121690 [GRCh38]
Chr9:141016142 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3068+3G>A single nucleotide variant not provided [RCV003022268] Chr9:138023814 [GRCh38]
Chr9:140918266 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5574G>A (p.Leu1858=) single nucleotide variant not provided [RCV002741131] Chr9:138114415 [GRCh38]
Chr9:141008867 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1535C>T (p.Thr512Met) single nucleotide variant not provided [RCV003083052] Chr9:137971584 [GRCh38]
Chr9:140866036 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6083G>A (p.Arg2028Gln) single nucleotide variant Inborn genetic diseases [RCV003274098]|not provided [RCV002958362] Chr9:138120217 [GRCh38]
Chr9:141014669 [GRCh37]
Chr9:9q34.3		 likely benign|uncertain significance
NM_000718.4(CACNA1B):c.2894_2895delinsAA (p.Gly965Glu) indel not provided [RCV002667669] Chr9:138023637..138023638 [GRCh38]
Chr9:140918089..140918090 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3825G>T (p.Val1275=) single nucleotide variant not provided [RCV003024650] Chr9:138053863 [GRCh38]
Chr9:140948315 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1337C>T (p.Ser446Phe) single nucleotide variant not provided [RCV003059419] Chr9:137971386 [GRCh38]
Chr9:140865838 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6391G>A (p.Asp2131Asn) single nucleotide variant Inborn genetic diseases [RCV002765076] Chr9:138120783 [GRCh38]
Chr9:141015235 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3460G>A (p.Val1154Met) single nucleotide variant not provided [RCV002790153] Chr9:138046950 [GRCh38]
Chr9:140941402 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.1333+15G>A single nucleotide variant not provided [RCV002894068] Chr9:137957702 [GRCh38]
Chr9:140852154 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3543+19C>T single nucleotide variant not provided [RCV002576008] Chr9:138047052 [GRCh38]
Chr9:140941504 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.2092+10T>C single nucleotide variant CACNA1B-related condition [RCV003906351]|not provided [RCV002928405] Chr9:138006894 [GRCh38]
Chr9:140901346 [GRCh37]
Chr9:9q34.3		 benign|likely benign
NM_000718.4(CACNA1B):c.5223-19C>T single nucleotide variant not provided [RCV002572481] Chr9:138102692 [GRCh38]
Chr9:140997144 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1769+13C>T single nucleotide variant not provided [RCV002575211] Chr9:137984263 [GRCh38]
Chr9:140878715 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6547G>A (p.Gly2183Ser) single nucleotide variant not provided [RCV002958624] Chr9:138121526 [GRCh38]
Chr9:141015978 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6502G>A (p.Val2168Met) single nucleotide variant not provided [RCV003082592] Chr9:138121481 [GRCh38]
Chr9:141015933 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6224C>T (p.Ala2075Val) single nucleotide variant not provided [RCV003039974] Chr9:138120358 [GRCh38]
Chr9:141014810 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2162A>G (p.Asp721Gly) single nucleotide variant not provided [RCV002958052] Chr9:138013130 [GRCh38]
Chr9:140907582 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2631G>A (p.Gly877=) single nucleotide variant not provided [RCV002710399] Chr9:138023374 [GRCh38]
Chr9:140917826 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1939G>A (p.Asp647Asn) single nucleotide variant not provided [RCV002626167] Chr9:137986819 [GRCh38]
Chr9:140881271 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3436A>G (p.Ile1146Val) single nucleotide variant not provided [RCV002666835] Chr9:138046926 [GRCh38]
Chr9:140941378 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6849T>A (p.Ala2283=) single nucleotide variant not provided [RCV002643670] Chr9:138121828 [GRCh38]
Chr9:141016280 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3544-8G>A single nucleotide variant not provided [RCV002575462] Chr9:138047391 [GRCh38]
Chr9:140941843 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.1543+12C>T single nucleotide variant not provided [RCV002573021] Chr9:137971604 [GRCh38]
Chr9:140866056 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3147G>T (p.Gln1049His) single nucleotide variant not provided [RCV002917284] Chr9:138025033 [GRCh38]
Chr9:140919485 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5240A>G (p.Asn1747Ser) single nucleotide variant not provided [RCV002954281] Chr9:138102728 [GRCh38]
Chr9:140997180 [GRCh37]
Chr9:9q34.3		 likely benign|conflicting interpretations of pathogenicity
NM_000718.4(CACNA1B):c.5122A>G (p.Met1708Val) single nucleotide variant not provided [RCV002740973] Chr9:138096511 [GRCh38]
Chr9:140990963 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4049A>G (p.Asn1350Ser) single nucleotide variant not provided [RCV002596759] Chr9:138057812 [GRCh38]
Chr9:140952264 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3333G>A (p.Val1111=) single nucleotide variant not provided [RCV002593905] Chr9:138043820 [GRCh38]
Chr9:140938272 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2553C>T (p.His851=) single nucleotide variant not provided [RCV002594804] Chr9:138023296 [GRCh38]
Chr9:140917748 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3969-18C>G single nucleotide variant not provided [RCV003057708] Chr9:138057714 [GRCh38]
Chr9:140952166 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5223-11C>T single nucleotide variant not provided [RCV002790063] Chr9:138102700 [GRCh38]
Chr9:140997152 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1070+10C>A single nucleotide variant not provided [RCV002667201] Chr9:137952387 [GRCh38]
Chr9:140846839 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2827C>A (p.Pro943Thr) single nucleotide variant not provided [RCV002917357] Chr9:138023570 [GRCh38]
Chr9:140918022 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4992C>T (p.Cys1664=) single nucleotide variant not provided [RCV002699979] Chr9:138078156 [GRCh38]
Chr9:140972608 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2479dup (p.Arg827fs) duplication not provided [RCV002893984] Chr9:138023221..138023222 [GRCh38]
Chr9:140917673..140917674 [GRCh37]
Chr9:9q34.3		 pathogenic
NM_000718.4(CACNA1B):c.4949+12G>A single nucleotide variant not provided [RCV002786658] Chr9:138075922 [GRCh38]
Chr9:140970374 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1330G>A (p.Val444Ile) single nucleotide variant not provided [RCV003024673] Chr9:137957684 [GRCh38]
Chr9:140852136 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2685G>C (p.Glu895Asp) single nucleotide variant not provided [RCV002745306] Chr9:138023428 [GRCh38]
Chr9:140917880 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3531G>C (p.Ser1177=) single nucleotide variant not provided [RCV003056908] Chr9:138047021 [GRCh38]
Chr9:140941473 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2692G>A (p.Gly898Arg) single nucleotide variant Inborn genetic diseases [RCV003269387]|not provided [RCV003005128] Chr9:138023435 [GRCh38]
Chr9:140917887 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6018G>A (p.Ala2006=) single nucleotide variant not provided [RCV002593541] Chr9:138118756 [GRCh38]
Chr9:141013208 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4949+9T>C single nucleotide variant not provided [RCV002700395] Chr9:138075919 [GRCh38]
Chr9:140970371 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.622+20G>A single nucleotide variant not provided [RCV002786777] Chr9:137913291 [GRCh38]
Chr9:140807743 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5816G>C (p.Trp1939Ser) single nucleotide variant not provided [RCV002632317] Chr9:138117984 [GRCh38]
Chr9:141012436 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.1628G>A (p.Arg543Gln) single nucleotide variant not provided [RCV002631769] Chr9:137975991 [GRCh38]
Chr9:140870443 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3200T>C (p.Met1067Thr) single nucleotide variant not provided [RCV002806131] Chr9:138025086 [GRCh38]
Chr9:140919538 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2092+13G>A single nucleotide variant not provided [RCV002600906] Chr9:138006897 [GRCh38]
Chr9:140901349 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3078C>T (p.His1026=) single nucleotide variant not provided [RCV002720040] Chr9:138024964 [GRCh38]
Chr9:140919416 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1344C>T (p.Phe448=) single nucleotide variant not provided [RCV003049138] Chr9:137971393 [GRCh38]
Chr9:140865845 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.1366G>A (p.Gly456Arg) single nucleotide variant not provided [RCV002580032] Chr9:137971415 [GRCh38]
Chr9:140865867 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6253G>A (p.Val2085Met) single nucleotide variant CACNA1B-related condition [RCV003898747]|not provided [RCV003065678] Chr9:138120645 [GRCh38]
Chr9:141015097 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2142C>T (p.Asn714=) single nucleotide variant not provided [RCV002580253] Chr9:138010059 [GRCh38]
Chr9:140904511 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5913+13G>A single nucleotide variant not provided [RCV002601754] Chr9:138118094 [GRCh38]
Chr9:141012546 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6366G>A (p.Ser2122=) single nucleotide variant not provided [RCV003009365] Chr9:138120758 [GRCh38]
Chr9:141015210 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4327G>A (p.Ala1443Thr) single nucleotide variant not provided [RCV002632049] Chr9:138058587 [GRCh38]
Chr9:140953039 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5270C>G (p.Ser1757Cys) single nucleotide variant not provided [RCV003048330] Chr9:138102758 [GRCh38]
Chr9:140997210 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.1017C>T (p.Leu339=) single nucleotide variant not provided [RCV003046504] Chr9:137952324 [GRCh38]
Chr9:140846776 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.262G>C (p.Ala88Pro) single nucleotide variant Inborn genetic diseases [RCV002836024] Chr9:137878195 [GRCh38]
Chr9:140772647 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2674C>T (p.His892Tyr) single nucleotide variant not provided [RCV002632065] Chr9:138023417 [GRCh38]
Chr9:140917869 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3384C>A (p.Ser1128Arg) single nucleotide variant not provided [RCV002967044] Chr9:138043871 [GRCh38]
Chr9:140938323 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5244C>T (p.Asp1748=) single nucleotide variant not provided [RCV002937683] Chr9:138102732 [GRCh38]
Chr9:140997184 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6553G>A (p.Gly2185Ser) single nucleotide variant not provided [RCV003092101] Chr9:138121532 [GRCh38]
Chr9:141015984 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6081G>A (p.Gln2027=) single nucleotide variant not provided [RCV002720413] Chr9:138120215 [GRCh38]
Chr9:141014667 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2093-1G>T single nucleotide variant not provided [RCV002811094] Chr9:138010009 [GRCh38]
Chr9:140904461 [GRCh37]
Chr9:9q34.3		 likely pathogenic
NM_000718.4(CACNA1B):c.3808-17C>T single nucleotide variant not provided [RCV002631963] Chr9:138053829 [GRCh38]
Chr9:140948281 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2417G>A (p.Arg806Gln) single nucleotide variant not provided [RCV002720166] Chr9:138023160 [GRCh38]
Chr9:140917612 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.1527G>T (p.Arg509=) single nucleotide variant not provided [RCV002651092] Chr9:137971576 [GRCh38]
Chr9:140866028 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1691C>T (p.Ala564Val) single nucleotide variant Inborn genetic diseases [RCV002669911] Chr9:137984172 [GRCh38]
Chr9:140878624 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4369C>T (p.Arg1457Trp) single nucleotide variant not provided [RCV003090365] Chr9:138058629 [GRCh38]
Chr9:140953081 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2941G>T (p.Ala981Ser) single nucleotide variant not provided [RCV002597840] Chr9:138023684 [GRCh38]
Chr9:140918136 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.967-12C>G single nucleotide variant not provided [RCV002716374] Chr9:137952262 [GRCh38]
Chr9:140846714 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1323C>G (p.Leu441=) single nucleotide variant not provided [RCV003045963] Chr9:137957677 [GRCh38]
Chr9:140852129 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4668G>A (p.Ala1556=) single nucleotide variant not provided [RCV002967340] Chr9:138059737 [GRCh38]
Chr9:140954189 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4092A>C (p.Gly1364=) single nucleotide variant not provided [RCV002720623] Chr9:138057855 [GRCh38]
Chr9:140952307 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1152G>A (p.Glu384=) single nucleotide variant not provided [RCV003091738] Chr9:137955779 [GRCh38]
Chr9:140850231 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4478A>G (p.Tyr1493Cys) single nucleotide variant not provided [RCV002670911] Chr9:138059083 [GRCh38]
Chr9:140953535 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2574C>A (p.Asp858Glu) single nucleotide variant not provided [RCV003030218] Chr9:138023317 [GRCh38]
Chr9:140917769 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4901G>A (p.Arg1634His) single nucleotide variant not provided [RCV002632541] Chr9:138075862 [GRCh38]
Chr9:140970314 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3318G>A (p.Glu1106=) single nucleotide variant CACNA1B-related condition [RCV003973567]|not provided [RCV002939037] Chr9:138043805 [GRCh38]
Chr9:140938257 [GRCh37]
Chr9:9q34.3		 benign|likely benign
NM_000718.4(CACNA1B):c.2223G>A (p.Val741=) single nucleotide variant not provided [RCV002898736] Chr9:138013191 [GRCh38]
Chr9:140907643 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2246C>T (p.Ala749Val) single nucleotide variant not provided [RCV002580498] Chr9:138013214 [GRCh38]
Chr9:140907666 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.1937T>G (p.Phe646Cys) single nucleotide variant not provided [RCV002812053] Chr9:137986817 [GRCh38]
Chr9:140881269 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4953C>T (p.Ser1651=) single nucleotide variant not provided [RCV002602429] Chr9:138078117 [GRCh38]
Chr9:140972569 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4488C>G (p.Pro1496=) single nucleotide variant not provided [RCV002632485] Chr9:138059093 [GRCh38]
Chr9:140953545 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5716C>T (p.Arg1906Ter) single nucleotide variant not provided [RCV002833448] Chr9:138115618 [GRCh38]
Chr9:141010070 [GRCh37]
Chr9:9q34.3		 pathogenic
NM_000718.4(CACNA1B):c.3948G>A (p.Lys1316=) single nucleotide variant not provided [RCV003031731] Chr9:138053986 [GRCh38]
Chr9:140948438 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2980A>G (p.Lys994Glu) single nucleotide variant not provided [RCV002961994] Chr9:138023723 [GRCh38]
Chr9:140918175 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5778-18T>G single nucleotide variant not provided [RCV002579808] Chr9:138117928 [GRCh38]
Chr9:141012380 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1059C>T (p.Gly353=) single nucleotide variant not provided [RCV002628559] Chr9:137952366 [GRCh38]
Chr9:140846818 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6226G>A (p.Asp2076Asn) single nucleotide variant not provided [RCV003086347] Chr9:138120360 [GRCh38]
Chr9:141014812 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1974+12G>C single nucleotide variant not provided [RCV003027320] Chr9:137986866 [GRCh38]
Chr9:140881318 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1111G>A (p.Ala371Thr) single nucleotide variant not provided [RCV003027248] Chr9:137955738 [GRCh38]
Chr9:140850190 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.1244-20C>T single nucleotide variant not provided [RCV002598354] Chr9:137957578 [GRCh38]
Chr9:140852030 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6142T>G (p.Ser2048Ala) single nucleotide variant not provided [RCV002577123] Chr9:138120276 [GRCh38]
Chr9:141014728 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.390+1_390+2insCCGACACGGAGCCC insertion not provided [RCV002938176] Chr9:137879160..137879161 [GRCh38]
Chr9:140773612..140773613 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2034C>T (p.Gly678=) single nucleotide variant not provided [RCV003061056] Chr9:138006826 [GRCh38]
Chr9:140901278 [GRCh37]
Chr9:9q34.3		 likely benign|uncertain significance
NM_000718.4(CACNA1B):c.6010C>T (p.Arg2004Cys) single nucleotide variant not provided [RCV002646668] Chr9:138118748 [GRCh38]
Chr9:141013200 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6349C>T (p.Pro2117Ser) single nucleotide variant not provided [RCV002598238] Chr9:138120741 [GRCh38]
Chr9:141015193 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4085C>T (p.Ser1362Phe) single nucleotide variant not provided [RCV002715993] Chr9:138057848 [GRCh38]
Chr9:140952300 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6210G>T (p.Gly2070=) single nucleotide variant not provided [RCV002647572] Chr9:138120344 [GRCh38]
Chr9:141014796 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.779C>T (p.Ala260Val) single nucleotide variant not provided [RCV002671572] Chr9:137917244 [GRCh38]
Chr9:140811696 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2161-11T>G single nucleotide variant not provided [RCV002646195] Chr9:138013118 [GRCh38]
Chr9:140907570 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5805G>A (p.Glu1935=) single nucleotide variant not provided [RCV002717176] Chr9:138117973 [GRCh38]
Chr9:141012425 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1464G>A (p.Val488=) single nucleotide variant not provided [RCV002627552] Chr9:137971513 [GRCh38]
Chr9:140865965 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1769+7C>T single nucleotide variant not provided [RCV003010139] Chr9:137984257 [GRCh38]
Chr9:140878709 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2644C>T (p.Arg882Trp) single nucleotide variant not provided [RCV002649385] Chr9:138023387 [GRCh38]
Chr9:140917839 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2608G>A (p.Glu870Lys) single nucleotide variant not provided [RCV002899452] Chr9:138023351 [GRCh38]
Chr9:140917803 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2566_2568delinsCAG (p.Asp856Gln) indel not provided [RCV002938093] Chr9:138023309..138023311 [GRCh38]
Chr9:140917761..140917763 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2268-4G>A single nucleotide variant not provided [RCV002877559] Chr9:138023007 [GRCh38]
Chr9:140917459 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6357C>A (p.Ser2119=) single nucleotide variant not provided [RCV002937616] Chr9:138120749 [GRCh38]
Chr9:141015201 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2491G>A (p.Gly831Arg) single nucleotide variant not provided [RCV002599952] Chr9:138023234 [GRCh38]
Chr9:140917686 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2160+18G>A single nucleotide variant not provided [RCV002576673] Chr9:138010095 [GRCh38]
Chr9:140904547 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.6450G>A (p.Thr2150=) single nucleotide variant not provided [RCV003088465] Chr9:138120842 [GRCh38]
Chr9:141015294 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2768C>T (p.Ser923Phe) single nucleotide variant not provided [RCV002895626] Chr9:138023511 [GRCh38]
Chr9:140917963 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6175C>T (p.Arg2059Cys) single nucleotide variant Inborn genetic diseases [RCV003089315]|not provided [RCV003089314] Chr9:138120309 [GRCh38]
Chr9:141014761 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5650-12C>T single nucleotide variant not provided [RCV002646528] Chr9:138115540 [GRCh38]
Chr9:141009992 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5922C>T (p.Asp1974=) single nucleotide variant not provided [RCV002922378] Chr9:138118660 [GRCh38]
Chr9:141013112 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.6311G>A (p.Arg2104His) single nucleotide variant not provided [RCV002599196] Chr9:138120703 [GRCh38]
Chr9:141015155 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.390+1_390+2insACGACACGGAGCCCTATTTCATCGGGATCTTT insertion not provided [RCV002877612] Chr9:137879160..137879161 [GRCh38]
Chr9:140773612..140773613 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3372C>T (p.Ile1124=) single nucleotide variant not provided [RCV002629288] Chr9:138043859 [GRCh38]
Chr9:140938311 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3891C>G (p.Ala1297=) single nucleotide variant not provided [RCV002578496] Chr9:138053929 [GRCh38]
Chr9:140948381 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5649+13C>T single nucleotide variant not provided [RCV003046085] Chr9:138114503 [GRCh38]
Chr9:141008955 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6514C>A (p.Pro2172Thr) single nucleotide variant not provided [RCV002791620] Chr9:138121493 [GRCh38]
Chr9:141015945 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5001C>T (p.Asn1667=) single nucleotide variant not provided [RCV002576709] Chr9:138078165 [GRCh38]
Chr9:140972617 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1459G>A (p.Val487Met) single nucleotide variant Inborn genetic diseases [RCV002934831] Chr9:137971508 [GRCh38]
Chr9:140865960 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5456C>T (p.Ala1819Val) single nucleotide variant not provided [RCV002598804] Chr9:138112425 [GRCh38]
Chr9:141006877 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5997G>T (p.Ala1999=) single nucleotide variant not provided [RCV002646349] Chr9:138118735 [GRCh38]
Chr9:141013187 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4461G>A (p.Val1487=) single nucleotide variant not provided [RCV002647478] Chr9:138058721 [GRCh38]
Chr9:140953173 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5965C>A (p.Pro1989Thr) single nucleotide variant not provided [RCV002647973] Chr9:138118703 [GRCh38]
Chr9:141013155 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.1767G>A (p.Thr589=) single nucleotide variant not provided [RCV003086989] Chr9:137984248 [GRCh38]
Chr9:140878700 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5319+7C>T single nucleotide variant not provided [RCV002876939] Chr9:138102814 [GRCh38]
Chr9:140997266 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5457G>C (p.Ala1819=) single nucleotide variant not provided [RCV003061064] Chr9:138112426 [GRCh38]
Chr9:141006878 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3255G>C (p.Thr1085=) single nucleotide variant not provided [RCV002671239] Chr9:138025141 [GRCh38]
Chr9:140919593 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2882G>A (p.Gly961Asp) single nucleotide variant not provided [RCV002600821] Chr9:138023625 [GRCh38]
Chr9:140918077 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6974G>C (p.Arg2325Pro) single nucleotide variant not provided [RCV002988404] Chr9:138121953 [GRCh38]
Chr9:141016405 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6653C>T (p.Thr2218Ile) single nucleotide variant not provided [RCV002598166] Chr9:138121632 [GRCh38]
Chr9:141016084 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6179G>A (p.Arg2060Lys) single nucleotide variant not provided [RCV002579073] Chr9:138120313 [GRCh38]
Chr9:141014765 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3471C>T (p.Leu1157=) single nucleotide variant not provided [RCV002600075] Chr9:138046961 [GRCh38]
Chr9:140941413 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5329C>T (p.Arg1777Cys) single nucleotide variant not provided [RCV002649546] Chr9:138105708 [GRCh38]
Chr9:141000160 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6923G>A (p.Arg2308His) single nucleotide variant not provided [RCV002600839] Chr9:138121902 [GRCh38]
Chr9:141016354 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5559G>A (p.Lys1853=) single nucleotide variant not provided [RCV003048485] Chr9:138114400 [GRCh38]
Chr9:141008852 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4926G>A (p.Leu1642=) single nucleotide variant not provided [RCV003009897] Chr9:138075887 [GRCh38]
Chr9:140970339 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3786C>T (p.Ile1262=) single nucleotide variant not provided [RCV002627973] Chr9:138052167 [GRCh38]
Chr9:140946619 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.543G>A (p.Thr181=) single nucleotide variant not provided [RCV002720385] Chr9:137913192 [GRCh38]
Chr9:140807644 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3414-5C>A single nucleotide variant not provided [RCV003088525] Chr9:138046899 [GRCh38]
Chr9:140941351 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5913+12C>T single nucleotide variant not provided [RCV002600150] Chr9:138118093 [GRCh38]
Chr9:141012545 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1334-12C>T single nucleotide variant not provided [RCV002671341] Chr9:137971371 [GRCh38]
Chr9:140865823 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3339G>A (p.Ala1113=) single nucleotide variant not provided [RCV002599763] Chr9:138043826 [GRCh38]
Chr9:140938278 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2527G>A (p.Glu843Lys) single nucleotide variant not provided [RCV002580623] Chr9:138023270 [GRCh38]
Chr9:140917722 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5442G>T (p.Gln1814His) single nucleotide variant not provided [RCV002806332] Chr9:138112411 [GRCh38]
Chr9:141006863 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4800C>T (p.Pro1600=) single nucleotide variant not provided [RCV003044375] Chr9:138074009 [GRCh38]
Chr9:140968461 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4496A>G (p.Tyr1499Cys) single nucleotide variant not provided [RCV003045134] Chr9:138059101 [GRCh38]
Chr9:140953553 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.1526G>A (p.Arg509Gln) single nucleotide variant not provided [RCV002629918] Chr9:137971575 [GRCh38]
Chr9:140866027 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6881C>G (p.Thr2294Ser) single nucleotide variant not provided [RCV002600913] Chr9:138121860 [GRCh38]
Chr9:141016312 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3643T>C (p.Phe1215Leu) single nucleotide variant not provided [RCV002720041] Chr9:138049248 [GRCh38]
Chr9:140943700 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3900G>A (p.Ala1300=) single nucleotide variant not provided [RCV003061216] Chr9:138053938 [GRCh38]
Chr9:140948390 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5792G>A (p.Ser1931Asn) single nucleotide variant Inborn genetic diseases [RCV002897816] Chr9:138117960 [GRCh38]
Chr9:141012412 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3604-4C>G single nucleotide variant not provided [RCV002720068] Chr9:138049205 [GRCh38]
Chr9:140943657 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2732_2737dup (p.Pro912_Glu913insGlyPro) duplication not provided [RCV002895404] Chr9:138023473..138023474 [GRCh38]
Chr9:140917925..140917926 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4950-11C>T single nucleotide variant not provided [RCV002600329] Chr9:138078103 [GRCh38]
Chr9:140972555 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4683C>A (p.Phe1561Leu) single nucleotide variant not provided [RCV002601192] Chr9:138073496 [GRCh38]
Chr9:140967948 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4858-13T>C single nucleotide variant not provided [RCV002745915] Chr9:138075806 [GRCh38]
Chr9:140970258 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2365del (p.Ser789fs) deletion not provided [RCV003026276] Chr9:138023108 [GRCh38]
Chr9:140917560 [GRCh37]
Chr9:9q34.3		 pathogenic
NM_000718.4(CACNA1B):c.5700del (p.Gln1901fs) deletion Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV003448465]|not provided [RCV002717239] Chr9:138115602 [GRCh38]
Chr9:141010054 [GRCh37]
Chr9:9q34.3		 pathogenic|likely pathogenic
NM_000718.4(CACNA1B):c.5945G>A (p.Arg1982Gln) single nucleotide variant CACNA1B-related condition [RCV003395538]|not provided [RCV002938337] Chr9:138118683 [GRCh38]
Chr9:141013135 [GRCh37]
Chr9:9q34.3		 likely benign|uncertain significance
NM_000718.4(CACNA1B):c.3185G>A (p.Arg1062Gln) single nucleotide variant not provided [RCV002631627] Chr9:138025071 [GRCh38]
Chr9:140919523 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.1994G>A (p.Trp665Ter) single nucleotide variant not provided [RCV002898987] Chr9:138006786 [GRCh38]
Chr9:140901238 [GRCh37]
Chr9:9q34.3		 pathogenic
NM_000718.4(CACNA1B):c.1070+20A>T single nucleotide variant not provided [RCV002746172] Chr9:137952397 [GRCh38]
Chr9:140846849 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3287-19G>C single nucleotide variant not provided [RCV002580481] Chr9:138043755 [GRCh38]
Chr9:140938207 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.981C>T (p.Ala327=) single nucleotide variant not provided [RCV002631683] Chr9:137952288 [GRCh38]
Chr9:140846740 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5283G>A (p.Gly1761=) single nucleotide variant not provided [RCV002899075] Chr9:138102771 [GRCh38]
Chr9:140997223 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2612C>T (p.Ala871Val) single nucleotide variant not provided [RCV003030038] Chr9:138023355 [GRCh38]
Chr9:140917807 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2330T>C (p.Leu777Pro) single nucleotide variant not provided [RCV002810349] Chr9:138023073 [GRCh38]
Chr9:140917525 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6089G>A (p.Arg2030His) single nucleotide variant Inborn genetic diseases [RCV003161752]|not provided [RCV003086114] Chr9:138120223 [GRCh38]
Chr9:141014675 [GRCh37]
Chr9:9q34.3		 likely benign|uncertain significance
NM_000718.4(CACNA1B):c.5684C>G (p.Ala1895Gly) single nucleotide variant not provided [RCV003029890] Chr9:138115586 [GRCh38]
Chr9:141010038 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2959C>T (p.Pro987Ser) single nucleotide variant not provided [RCV003031223] Chr9:138023702 [GRCh38]
Chr9:140918154 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.1350C>T (p.Arg450=) single nucleotide variant CACNA1B-related condition [RCV003953908]|not provided [RCV002602551] Chr9:137971399 [GRCh38]
Chr9:140865851 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6578C>T (p.Thr2193Met) single nucleotide variant not provided [RCV002627582] Chr9:138121557 [GRCh38]
Chr9:141016009 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.1244-16C>T single nucleotide variant not provided [RCV002715532] Chr9:137957582 [GRCh38]
Chr9:140852034 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5536+8T>A single nucleotide variant not provided [RCV003088447] Chr9:138112513 [GRCh38]
Chr9:141006965 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3413+17G>A single nucleotide variant not provided [RCV002581402] Chr9:138043917 [GRCh38]
Chr9:140938369 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.847T>C (p.Cys283Arg) single nucleotide variant not provided [RCV002746598] Chr9:137917312 [GRCh38]
Chr9:140811764 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5944C>A (p.Arg1982=) single nucleotide variant not provided [RCV002649982] Chr9:138118682 [GRCh38]
Chr9:141013134 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4308+16G>A single nucleotide variant not provided [RCV002579807] Chr9:138058266 [GRCh38]
Chr9:140952718 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.390+1_390+2insACGACACGGAGCCCTATT insertion not provided [RCV002966721] Chr9:137879160..137879161 [GRCh38]
Chr9:140773612..140773613 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3609C>T (p.Ile1203=) single nucleotide variant not provided [RCV002646534] Chr9:138049214 [GRCh38]
Chr9:140943666 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6296G>A (p.Arg2099Gln) single nucleotide variant not provided [RCV002647139] Chr9:138120688 [GRCh38]
Chr9:141015140 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.662T>C (p.Val221Ala) single nucleotide variant not provided [RCV002629412] Chr9:137914693 [GRCh38]
Chr9:140809145 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2908G>A (p.Glu970Lys) single nucleotide variant Inborn genetic diseases [RCV003161871]|not provided [RCV002579186] Chr9:138023651 [GRCh38]
Chr9:140918103 [GRCh37]
Chr9:9q34.3		 likely benign|uncertain significance
NM_000718.4(CACNA1B):c.2180A>C (p.Glu727Ala) single nucleotide variant Inborn genetic diseases [RCV002747179] Chr9:138013148 [GRCh38]
Chr9:140907600 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3699G>A (p.Ala1233=) single nucleotide variant not provided [RCV002599764] Chr9:138049304 [GRCh38]
Chr9:140943756 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5454C>T (p.Asp1818=) single nucleotide variant CACNA1B-related condition [RCV003926710]|not provided [RCV003088565] Chr9:138112423 [GRCh38]
Chr9:141006875 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6926G>A (p.Arg2309His) single nucleotide variant not provided [RCV003090943] Chr9:138121905 [GRCh38]
Chr9:141016357 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3666G>A (p.Leu1222=) single nucleotide variant not provided [RCV002600220] Chr9:138049271 [GRCh38]
Chr9:140943723 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2249C>T (p.Ala750Val) single nucleotide variant not provided [RCV002581072] Chr9:138013217 [GRCh38]
Chr9:140907669 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2914G>A (p.Gly972Arg) single nucleotide variant not provided [RCV002601063] Chr9:138023657 [GRCh38]
Chr9:140918109 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6299G>C (p.Arg2100Pro) single nucleotide variant not provided [RCV002646933] Chr9:138120691 [GRCh38]
Chr9:141015143 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.390+1_390+2insACGACACGGAGCCCTATTTCATCGGGATCTTTTGCTTCGAGGCAGGGATCAAAATCATCGCTCTGGGCTTTGTCTTCCACAAGGGCTC insertion not provided [RCV002857082] Chr9:137879160..137879161 [GRCh38]
Chr9:140773612..140773613 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4949+6T>G single nucleotide variant not provided [RCV002580701] Chr9:138075916 [GRCh38]
Chr9:140970368 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2616G>A (p.Pro872=) single nucleotide variant not provided [RCV002601897] Chr9:138023359 [GRCh38]
Chr9:140917811 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6572C>T (p.Pro2191Leu) single nucleotide variant not provided [RCV002602321] Chr9:138121551 [GRCh38]
Chr9:141016003 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2553C>G (p.His851Gln) single nucleotide variant not provided [RCV002598273] Chr9:138023296 [GRCh38]
Chr9:140917748 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3868A>G (p.Met1290Val) single nucleotide variant not provided [RCV002962069] Chr9:138053906 [GRCh38]
Chr9:140948358 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.837C>T (p.Gly279=) single nucleotide variant not provided [RCV002598253] Chr9:137917302 [GRCh38]
Chr9:140811754 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6778C>T (p.Leu2260=) single nucleotide variant not provided [RCV002630479] Chr9:138121757 [GRCh38]
Chr9:141016209 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5762G>C (p.Ser1921Thr) single nucleotide variant not provided [RCV002580741] Chr9:138115664 [GRCh38]
Chr9:141010116 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.622+5G>A single nucleotide variant not provided [RCV003048882] Chr9:137913276 [GRCh38]
Chr9:140807728 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2697C>A (p.Pro899=) single nucleotide variant not provided [RCV002597819] Chr9:138023440 [GRCh38]
Chr9:140917892 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1414C>T (p.Arg472Trp) single nucleotide variant not provided [RCV003027468] Chr9:137971463 [GRCh38]
Chr9:140865915 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6869G>T (p.Arg2290Leu) single nucleotide variant Inborn genetic diseases [RCV003250564]|not provided [RCV002671881] Chr9:138121848 [GRCh38]
Chr9:141016300 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3339G>C (p.Ala1113=) single nucleotide variant not provided [RCV002877397] Chr9:138043826 [GRCh38]
Chr9:140938278 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1902-12T>C single nucleotide variant not provided [RCV002671908] Chr9:137986770 [GRCh38]
Chr9:140881222 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1382C>T (p.Ser461Leu) single nucleotide variant not provided [RCV002578985] Chr9:137971431 [GRCh38]
Chr9:140865883 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4221C>T (p.Phe1407=) single nucleotide variant CACNA1B-related condition [RCV003963635]|not provided [RCV003086633] Chr9:138058163 [GRCh38]
Chr9:140952615 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2861G>T (p.Arg954Leu) single nucleotide variant not provided [RCV002646396] Chr9:138023604 [GRCh38]
Chr9:140918056 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2266G>A (p.Ala756Thr) single nucleotide variant not provided [RCV002966055] Chr9:138013234 [GRCh38]
Chr9:140907686 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6160C>T (p.His2054Tyr) single nucleotide variant not provided [RCV002962556] Chr9:138120294 [GRCh38]
Chr9:141014746 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5649+5C>T single nucleotide variant not provided [RCV002633731] Chr9:138114495 [GRCh38]
Chr9:141008947 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5223-11dup duplication not provided [RCV002582770] Chr9:138102699..138102700 [GRCh38]
Chr9:140997151..140997152 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3019G>A (p.Glu1007Lys) single nucleotide variant not provided [RCV002942777] Chr9:138023762 [GRCh38]
Chr9:140918214 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6443A>G (p.His2148Arg) single nucleotide variant not provided [RCV002603958] Chr9:138120835 [GRCh38]
Chr9:141015287 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5398C>T (p.Arg1800Trp) single nucleotide variant not provided [RCV003052081] Chr9:138105777 [GRCh38]
Chr9:141000229 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.1523G>A (p.Arg508Gln) single nucleotide variant not provided [RCV002633371] Chr9:137971572 [GRCh38]
Chr9:140866024 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.1374A>G (p.Thr458=) single nucleotide variant not provided [RCV003050833] Chr9:137971423 [GRCh38]
Chr9:140865875 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2521G>T (p.Ala841Ser) single nucleotide variant not provided [RCV002604319] Chr9:138023264 [GRCh38]
Chr9:140917716 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6978A>C (p.Ala2326=) single nucleotide variant not provided [RCV002943522] Chr9:138121957 [GRCh38]
Chr9:141016409 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6058C>T (p.Arg2020Cys) single nucleotide variant not provided [RCV002605517] Chr9:138120192 [GRCh38]
Chr9:141014644 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.607G>C (p.Val203Leu) single nucleotide variant not provided [RCV003052259] Chr9:137913256 [GRCh38]
Chr9:140807708 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5424C>T (p.Ala1808=) single nucleotide variant not provided [RCV002606340] Chr9:138105803 [GRCh38]
Chr9:141000255 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1657-8C>T single nucleotide variant not provided [RCV002584248] Chr9:137984130 [GRCh38]
Chr9:140878582 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.824G>A (p.Arg275Gln) single nucleotide variant not provided [RCV003068474] Chr9:137917289 [GRCh38]
Chr9:140811741 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6950C>T (p.Thr2317Ile) single nucleotide variant not provided [RCV002942406] Chr9:138121929 [GRCh38]
Chr9:141016381 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3345C>T (p.Asp1115=) single nucleotide variant not provided [RCV002943074] Chr9:138043832 [GRCh38]
Chr9:140938284 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2990C>T (p.Thr997Met) single nucleotide variant not provided [RCV002944087] Chr9:138023733 [GRCh38]
Chr9:140918185 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1071-17C>T single nucleotide variant not provided [RCV002583745] Chr9:137955681 [GRCh38]
Chr9:140850133 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1662C>T (p.Ile554=) single nucleotide variant not provided [RCV003051960] Chr9:137984143 [GRCh38]
Chr9:140878595 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6490-12A>G single nucleotide variant not provided [RCV002634992] Chr9:138121457 [GRCh38]
Chr9:141015909 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5377T>A (p.Ser1793Thr) single nucleotide variant not provided [RCV002583342] Chr9:138105756 [GRCh38]
Chr9:141000208 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3588T>C (p.Phe1196=) single nucleotide variant not provided [RCV002726150] Chr9:138047443 [GRCh38]
Chr9:140941895 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3338C>T (p.Ala1113Val) single nucleotide variant not provided [RCV002604790] Chr9:138043825 [GRCh38]
Chr9:140938277 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.5391C>G (p.Ala1797=) single nucleotide variant not provided [RCV002657829] Chr9:138105770 [GRCh38]
Chr9:141000222 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3531G>A (p.Ser1177=) single nucleotide variant not provided [RCV002605975] Chr9:138047021 [GRCh38]
Chr9:140941473 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6468G>A (p.Gln2156=) single nucleotide variant not provided [RCV003093645] Chr9:138120860 [GRCh38]
Chr9:141015312 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.6489+14G>C single nucleotide variant not provided [RCV002586551] Chr9:138120895 [GRCh38]
Chr9:141015347 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2895G>T (p.Gly965=) single nucleotide variant not provided [RCV002609196] Chr9:138023638 [GRCh38]
Chr9:140918090 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5757C>T (p.Ser1919=) single nucleotide variant not provided [RCV002585718] Chr9:138115659 [GRCh38]
Chr9:141010111 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2730A>G (p.Pro910=) single nucleotide variant not provided [RCV002586615] Chr9:138023473 [GRCh38]
Chr9:140917925 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2691G>A (p.Ala897=) single nucleotide variant not provided [RCV002681065] Chr9:138023434 [GRCh38]
Chr9:140917886 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6406C>T (p.Arg2136Cys) single nucleotide variant not provided [RCV002607420] Chr9:138120798 [GRCh38]
Chr9:141015250 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6390C>T (p.Cys2130=) single nucleotide variant not provided [RCV002943539] Chr9:138120782 [GRCh38]
Chr9:141015234 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1656+10_1656+11del microsatellite not provided [RCV002588979] Chr9:137976026..137976027 [GRCh38]
Chr9:140870478..140870479 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4555G>A (p.Val1519Met) single nucleotide variant not provided [RCV003070327] Chr9:138059160 [GRCh38]
Chr9:140953612 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5777+20A>T single nucleotide variant not provided [RCV002589209] Chr9:138115699 [GRCh38]
Chr9:141010151 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3307A>G (p.Ser1103Gly) single nucleotide variant not provided [RCV002603912] Chr9:138043794 [GRCh38]
Chr9:140938246 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3543+11C>T single nucleotide variant not provided [RCV002585939] Chr9:138047044 [GRCh38]
Chr9:140941496 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6489+7G>A single nucleotide variant not provided [RCV002609832] Chr9:138120888 [GRCh38]
Chr9:141015340 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1126C>T (p.Arg376Cys) single nucleotide variant not provided [RCV002726133] Chr9:137955753 [GRCh38]
Chr9:140850205 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3705T>C (p.Ala1235=) single nucleotide variant not provided [RCV002608539] Chr9:138049310 [GRCh38]
Chr9:140943762 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5222+14G>A single nucleotide variant not provided [RCV002584408] Chr9:138096625 [GRCh38]
Chr9:140991077 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4524C>T (p.Ile1508=) single nucleotide variant not provided [RCV002608603] Chr9:138059129 [GRCh38]
Chr9:140953581 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5478C>T (p.Ser1826=) single nucleotide variant not provided [RCV002610012] Chr9:138112447 [GRCh38]
Chr9:141006899 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1544-10C>T single nucleotide variant not provided [RCV002606788] Chr9:137975897 [GRCh38]
Chr9:140870349 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2483G>A (p.Gly828Glu) single nucleotide variant not provided [RCV002586120] Chr9:138023226 [GRCh38]
Chr9:140917678 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4546A>G (p.Met1516Val) single nucleotide variant not provided [RCV002607717] Chr9:138059151 [GRCh38]
Chr9:140953603 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5875C>G (p.His1959Asp) single nucleotide variant not provided [RCV002587015] Chr9:138118043 [GRCh38]
Chr9:141012495 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6831_6832inv (p.Leu2278Ile) inversion not provided [RCV002585224] Chr9:138121810..138121811 [GRCh38]
Chr9:141016262..141016263 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6088C>T (p.Arg2030Cys) single nucleotide variant Inborn genetic diseases [RCV002606881]|not provided [RCV002606880] Chr9:138120222 [GRCh38]
Chr9:141014674 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.1334-23_1334-17del deletion not provided [RCV002604106] Chr9:137971360..137971366 [GRCh38]
Chr9:140865812..140865818 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.1334-15T>C single nucleotide variant not provided [RCV002604107] Chr9:137971368 [GRCh38]
Chr9:140865820 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5024A>G (p.Asn1675Ser) single nucleotide variant not provided [RCV002654325] Chr9:138078188 [GRCh38]
Chr9:140972640 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4584+9T>C single nucleotide variant not provided [RCV002603541] Chr9:138059198 [GRCh38]
Chr9:140953650 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5863C>G (p.Leu1955Val) single nucleotide variant not provided [RCV002608870] Chr9:138118031 [GRCh38]
Chr9:141012483 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6689G>A (p.Arg2230His) single nucleotide variant not provided [RCV002603081] Chr9:138121668 [GRCh38]
Chr9:141016120 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6831T>A (p.Thr2277=) single nucleotide variant not provided [RCV002603601] Chr9:138121810 [GRCh38]
Chr9:141016262 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3294C>T (p.Asn1098=) single nucleotide variant not provided [RCV003068958] Chr9:138043781 [GRCh38]
Chr9:140938233 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2681A>T (p.Lys894Met) single nucleotide variant CACNA1B-related condition [RCV003973653]|Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV003143472]|not provided [RCV003072234] Chr9:138023424 [GRCh38]
Chr9:140917876 [GRCh37]
Chr9:9q34.3		 benign|uncertain significance
NM_000718.4(CACNA1B):c.3413+10C>T single nucleotide variant not provided [RCV002588306] Chr9:138043910 [GRCh38]
Chr9:140938362 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2864_2872del (p.Arg955_Arg957del) deletion not provided [RCV002610830] Chr9:138023602..138023610 [GRCh38]
Chr9:140918054..140918062 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.1365C>T (p.Ser455=) single nucleotide variant not provided [RCV002582350] Chr9:137971414 [GRCh38]
Chr9:140865866 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6164G>A (p.Arg2055His) single nucleotide variant not provided [RCV002606291] Chr9:138120298 [GRCh38]
Chr9:141014750 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3543+12G>A single nucleotide variant not provided [RCV002586488] Chr9:138047045 [GRCh38]
Chr9:140941497 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.966+9C>T single nucleotide variant not provided [RCV002609121] Chr9:137917440 [GRCh38]
Chr9:140811892 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4667C>T (p.Ala1556Val) single nucleotide variant not provided [RCV002942363] Chr9:138059736 [GRCh38]
Chr9:140954188 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6888C>T (p.Tyr2296=) single nucleotide variant not provided [RCV002604351] Chr9:138121867 [GRCh38]
Chr9:141016319 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2079A>G (p.Thr693=) single nucleotide variant not provided [RCV003092558] Chr9:138006871 [GRCh38]
Chr9:140901323 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3214C>T (p.Pro1072Ser) single nucleotide variant not provided [RCV002588542] Chr9:138025100 [GRCh38]
Chr9:140919552 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2477C>T (p.Ala826Val) single nucleotide variant not provided [RCV002613129] Chr9:138023220 [GRCh38]
Chr9:140917672 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4174C>A (p.Leu1392Met) single nucleotide variant not provided [RCV003052393] Chr9:138058116 [GRCh38]
Chr9:140952568 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5712G>A (p.Val1904=) single nucleotide variant not provided [RCV002726110] Chr9:138115614 [GRCh38]
Chr9:141010066 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4397C>T (p.Thr1466Ile) single nucleotide variant not provided [RCV002588568] Chr9:138058657 [GRCh38]
Chr9:140953109 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5320-19C>T single nucleotide variant not provided [RCV002613177] Chr9:138105680 [GRCh38]
Chr9:141000132 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2093-7C>A single nucleotide variant not provided [RCV002613217] Chr9:138010003 [GRCh38]
Chr9:140904455 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2891C>T (p.Ala964Val) single nucleotide variant not provided [RCV002582665] Chr9:138023634 [GRCh38]
Chr9:140918086 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.1746G>A (p.Leu582=) single nucleotide variant not provided [RCV002607578] Chr9:137984227 [GRCh38]
Chr9:140878679 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6238+5G>A single nucleotide variant not provided [RCV002814593] Chr9:138120377 [GRCh38]
Chr9:141014829 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3221C>T (p.Pro1074Leu) single nucleotide variant Inborn genetic diseases [RCV003161883]|not provided [RCV002585177] Chr9:138025107 [GRCh38]
Chr9:140919559 [GRCh37]
Chr9:9q34.3		 likely benign|uncertain significance
NM_000718.4(CACNA1B):c.2286C>G (p.Ala762=) single nucleotide variant not provided [RCV002585272] Chr9:138023029 [GRCh38]
Chr9:140917481 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5639G>T (p.Gly1880Val) single nucleotide variant not provided [RCV002611453] Chr9:138114480 [GRCh38]
Chr9:141008932 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3357C>T (p.Ser1119=) single nucleotide variant not provided [RCV002604777] Chr9:138043844 [GRCh38]
Chr9:140938296 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.903G>C (p.Leu301=) single nucleotide variant not provided [RCV002606097] Chr9:137917368 [GRCh38]
Chr9:140811820 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4212C>G (p.Pro1404=) single nucleotide variant not provided [RCV002611568] Chr9:138058154 [GRCh38]
Chr9:140952606 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5529C>T (p.Pro1843=) single nucleotide variant not provided [RCV002635214] Chr9:138112498 [GRCh38]
Chr9:141006950 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1170G>A (p.Glu390=) single nucleotide variant not provided [RCV002653538] Chr9:137955797 [GRCh38]
Chr9:140850249 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6122G>A (p.Arg2041His) single nucleotide variant not provided [RCV002585619] Chr9:138120256 [GRCh38]
Chr9:141014708 [GRCh37]
Chr9:9q34.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000718.4(CACNA1B):c.6974G>A (p.Arg2325Gln) single nucleotide variant not provided [RCV002589344] Chr9:138121953 [GRCh38]
Chr9:141016405 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3414-16G>A single nucleotide variant not provided [RCV002589380] Chr9:138046888 [GRCh38]
Chr9:140941340 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5646C>A (p.Ser1882=) single nucleotide variant not provided [RCV002589452] Chr9:138114487 [GRCh38]
Chr9:141008939 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4669-19A>G single nucleotide variant not provided [RCV002589574] Chr9:138069739 [GRCh38]
Chr9:140964191 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6372G>A (p.Lys2124=) single nucleotide variant not provided [RCV002725537] Chr9:138120764 [GRCh38]
Chr9:141015216 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6213C>T (p.Pro2071=) single nucleotide variant CACNA1B-related condition [RCV003973704]|not provided [RCV002612102] Chr9:138120347 [GRCh38]
Chr9:141014799 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.3699G>T (p.Ala1233=) single nucleotide variant not provided [RCV002584455] Chr9:138049304 [GRCh38]
Chr9:140943756 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4675-6C>T single nucleotide variant not provided [RCV002634411] Chr9:138073482 [GRCh38]
Chr9:140967934 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1153C>G (p.Leu385Val) single nucleotide variant not provided [RCV002586141] Chr9:137955780 [GRCh38]
Chr9:140850232 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3543+14A>G single nucleotide variant not provided [RCV002586228] Chr9:138047047 [GRCh38]
Chr9:140941499 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6050C>T (p.Pro2017Leu) single nucleotide variant not provided [RCV003073096] Chr9:138120184 [GRCh38]
Chr9:141014636 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2875C>T (p.Arg959Cys) single nucleotide variant not provided [RCV002676791] Chr9:138023618 [GRCh38]
Chr9:140918070 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.558C>T (p.Phe186=) single nucleotide variant not provided [RCV002583443] Chr9:137913207 [GRCh38]
Chr9:140807659 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5407C>T (p.Leu1803=) single nucleotide variant not provided [RCV002612625] Chr9:138105786 [GRCh38]
Chr9:141000238 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2878_2879insCCG (p.Arg959_Gly960insAla) insertion not provided [RCV002612706] Chr9:138023619..138023620 [GRCh38]
Chr9:140918071..140918072 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5914-218C>T single nucleotide variant not provided [RCV003229314] Chr9:138118434 [GRCh38]
Chr9:141012886 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5353G>A (p.Glu1785Lys) single nucleotide variant CACNA1B-related condition [RCV003420610]|Inborn genetic diseases [RCV003201361] Chr9:138105732 [GRCh38]
Chr9:141000184 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5479G>A (p.Val1827Ile) single nucleotide variant Inborn genetic diseases [RCV003179536] Chr9:138112448 [GRCh38]
Chr9:141006900 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.390+1_390+2insACGACACGGAGCCC insertion not provided [RCV003227381] Chr9:137879160..137879161 [GRCh38]
Chr9:140773612..140773613 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4570G>A (p.Ala1524Thr) single nucleotide variant Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV003143887] Chr9:138059175 [GRCh38]
Chr9:140953627 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2966A>G (p.His989Arg) single nucleotide variant Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV003143888] Chr9:138023709 [GRCh38]
Chr9:140918161 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.1348C>T (p.Arg450Cys) single nucleotide variant Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV003143890] Chr9:137971397 [GRCh38]
Chr9:140865849 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2639G>A (p.Gly880Asp) single nucleotide variant Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV003143891] Chr9:138023382 [GRCh38]
Chr9:140917834 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3149A>T (p.Lys1050Met) single nucleotide variant Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV003143892] Chr9:138025035 [GRCh38]
Chr9:140919487 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3804C>A (p.Leu1268=) single nucleotide variant Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV003143893] Chr9:138052185 [GRCh38]
Chr9:140946637 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.1708A>G (p.Ser570Gly) single nucleotide variant Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV003143894] Chr9:137984189 [GRCh38]
Chr9:140878641 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5993G>A (p.Arg1998Gln) single nucleotide variant Inborn genetic diseases [RCV003219232] Chr9:138118731 [GRCh38]
Chr9:141013183 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6925C>T (p.Arg2309Cys) single nucleotide variant Inborn genetic diseases [RCV003192200] Chr9:138121904 [GRCh38]
Chr9:141016356 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.1656+11G>A single nucleotide variant not provided [RCV003872579] Chr9:137976030 [GRCh38]
Chr9:140870482 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2637C>G (p.Pro879=) single nucleotide variant not provided [RCV003327232] Chr9:138023380 [GRCh38]
Chr9:140917832 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4335C>T (p.Ser1445=) single nucleotide variant not provided [RCV003327233] Chr9:138058595 [GRCh38]
Chr9:140953047 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.102C>A (p.Pro34=) single nucleotide variant not provided [RCV003327231] Chr9:137878035 [GRCh38]
Chr9:140772487 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4117C>A (p.His1373Asn) single nucleotide variant Inborn genetic diseases [RCV003378584] Chr9:138058059 [GRCh38]
Chr9:140952511 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3040G>A (p.Glu1014Lys) single nucleotide variant Inborn genetic diseases [RCV003364942] Chr9:138023783 [GRCh38]
Chr9:140918235 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3205A>T (p.Ser1069Cys) single nucleotide variant Inborn genetic diseases [RCV003375101] Chr9:138025091 [GRCh38]
Chr9:140919543 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.1318G>A (p.Asp440Asn) single nucleotide variant Inborn genetic diseases [RCV003361907] Chr9:137957672 [GRCh38]
Chr9:140852124 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.1271G>A (p.Ser424Asn) single nucleotide variant Inborn genetic diseases [RCV003349977] Chr9:137957625 [GRCh38]
Chr9:140852077 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2533G>A (p.Val845Ile) single nucleotide variant Inborn genetic diseases [RCV003350433] Chr9:138023276 [GRCh38]
Chr9:140917728 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6C>G (p.Val2=) single nucleotide variant not provided [RCV003457583] Chr9:137877939 [GRCh38]
Chr9:140772391 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4600G>T (p.Ala1534Ser) single nucleotide variant Inborn genetic diseases [RCV003356076] Chr9:138059669 [GRCh38]
Chr9:140954121 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5506_5515delinsCTGGTACAGCTTA (p.Thr1836_Leu1839delinsLeuValGlnLeuMet) indel Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV003333664] Chr9:138112475..138112484 [GRCh38]
Chr9:141006927..141006936 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.776-11C>T single nucleotide variant not provided [RCV003543167] Chr9:137917230 [GRCh38]
Chr9:140811682 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4474-13A>T single nucleotide variant not provided [RCV003570242] Chr9:138059066 [GRCh38]
Chr9:140953518 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5208C>T (p.Tyr1736=) single nucleotide variant not provided [RCV003457584] Chr9:138096597 [GRCh38]
Chr9:140991049 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4325del (p.Phe1442fs) deletion not provided [RCV003571612] Chr9:138058584 [GRCh38]
Chr9:140953036 [GRCh37]
Chr9:9q34.3		 pathogenic
NM_000718.4(CACNA1B):c.2160+13A>G single nucleotide variant not provided [RCV003872754] Chr9:138010090 [GRCh38]
Chr9:140904542 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4173G>A (p.Glu1391=) single nucleotide variant not provided [RCV003543224] Chr9:138058115 [GRCh38]
Chr9:140952567 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1164C>T (p.Tyr388=) single nucleotide variant not provided [RCV003543230] Chr9:137955791 [GRCh38]
Chr9:140850243 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2592G>C (p.Gly864=) single nucleotide variant not provided [RCV003569938] Chr9:138023335 [GRCh38]
Chr9:140917787 [GRCh37]
Chr9:9q34.3		 likely benign
GRCh37/hg19 9q34.3(chr9:140706817-141020389)x4 copy number gain not provided [RCV003485356] Chr9:140706817..141020389 [GRCh37]
Chr9:9q34.3		 uncertain significance
Single allele deletion not provided [RCV003448674] Chr9:140395736..141075109 [GRCh37]
Chr9:9q34.3		 pathogenic
GRCh37/hg19 9q34.2-34.3(chr9:136988996-141020389)x3 copy number gain not provided [RCV003484786] Chr9:136988996..141020389 [GRCh37]
Chr9:9q34.2-34.3		 pathogenic
NM_000718.4(CACNA1B):c.2352C>T (p.Cys784=) single nucleotide variant not provided [RCV003732587]|not specified [RCV003405096] Chr9:138023095 [GRCh38]
Chr9:140917547 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.667C>T (p.Leu223Phe) single nucleotide variant CACNA1B-related condition [RCV003406049] Chr9:137914698 [GRCh38]
Chr9:140809150 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5986C>T (p.Gln1996Ter) single nucleotide variant not provided [RCV003690640] Chr9:138118724 [GRCh38]
Chr9:141013176 [GRCh37]
Chr9:9q34.3		 pathogenic
NM_000718.4(CACNA1B):c.108G>T (p.Gly36=) single nucleotide variant not provided [RCV003440850] Chr9:137878041 [GRCh38]
Chr9:140772493 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.180C>T (p.Asn60=) single nucleotide variant not provided [RCV003440851] Chr9:137878113 [GRCh38]
Chr9:140772565 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.273C>A (p.Ile91=) single nucleotide variant not provided [RCV003440852] Chr9:137878206 [GRCh38]
Chr9:140772658 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.351C>T (p.His117=) single nucleotide variant not provided [RCV003440853] Chr9:137879120 [GRCh38]
Chr9:140773572 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.807C>T (p.Gly269=) single nucleotide variant not provided [RCV003440854] Chr9:137917272 [GRCh38]
Chr9:140811724 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.966T>C (p.Asn322=) single nucleotide variant not provided [RCV003440855] Chr9:137917431 [GRCh38]
Chr9:140811883 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6273G>A (p.Pro2091=) single nucleotide variant not provided [RCV003440858] Chr9:138120665 [GRCh38]
Chr9:141015117 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6827A>G (p.Asp2276Gly) single nucleotide variant CACNA1B-related condition [RCV003419095] Chr9:138121806 [GRCh38]
Chr9:141016258 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5461T>C (p.Leu1821=) single nucleotide variant not provided [RCV003440857] Chr9:138112430 [GRCh38]
Chr9:141006882 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.972C>T (p.Asn324=) single nucleotide variant not provided [RCV003430420] Chr9:137952279 [GRCh38]
Chr9:140846731 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5536+1G>A single nucleotide variant CACNA1B-related condition [RCV003410830]|not provided [RCV003778336] Chr9:138112506 [GRCh38]
Chr9:141006958 [GRCh37]
Chr9:9q34.3		 likely pathogenic|uncertain significance
NM_000718.4(CACNA1B):c.18C>A (p.Asp6Glu) single nucleotide variant not provided [RCV003440848] Chr9:137877951 [GRCh38]
Chr9:140772403 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.42C>T (p.Gly14=) single nucleotide variant not provided [RCV003440849] Chr9:137877975 [GRCh38]
Chr9:140772427 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2640T>G (p.Gly880=) single nucleotide variant not provided [RCV003440856] Chr9:138023383 [GRCh38]
Chr9:140917835 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5320-14C>A single nucleotide variant not provided [RCV003830485] Chr9:138105685 [GRCh38]
Chr9:141000137 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1671C>T (p.Ser557=) single nucleotide variant not provided [RCV003740103] Chr9:137984152 [GRCh38]
Chr9:140878604 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4309-2A>G single nucleotide variant not provided [RCV003579134] Chr9:138058567 [GRCh38]
Chr9:140953019 [GRCh37]
Chr9:9q34.3		 likely pathogenic
NM_000718.4(CACNA1B):c.2202T>C (p.Ala734=) single nucleotide variant not provided [RCV003579136] Chr9:138013170 [GRCh38]
Chr9:140907622 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3729C>T (p.Asp1243=) single nucleotide variant not provided [RCV003713372] Chr9:138052110 [GRCh38]
Chr9:140946562 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2416C>A (p.Arg806=) single nucleotide variant not provided [RCV003714820] Chr9:138023159 [GRCh38]
Chr9:140917611 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6282G>A (p.Gly2094=) single nucleotide variant not provided [RCV003579526] Chr9:138120674 [GRCh38]
Chr9:141015126 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3286+6dup duplication not provided [RCV003692424] Chr9:138025177..138025178 [GRCh38]
Chr9:140919629..140919630 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4305C>T (p.Asn1435=) single nucleotide variant not provided [RCV003829973] Chr9:138058247 [GRCh38]
Chr9:140952699 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.776-14T>C single nucleotide variant not provided [RCV003578576] Chr9:137917227 [GRCh38]
Chr9:140811679 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5301T>C (p.Pro1767=) single nucleotide variant not provided [RCV003579559] Chr9:138102789 [GRCh38]
Chr9:140997241 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1902-15T>A single nucleotide variant not provided [RCV003576616] Chr9:137986767 [GRCh38]
Chr9:140881219 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5913+17G>A single nucleotide variant not provided [RCV003831426] Chr9:138118098 [GRCh38]
Chr9:141012550 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5650-20T>C single nucleotide variant not provided [RCV003830781] Chr9:138115532 [GRCh38]
Chr9:141009984 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5149G>C (p.Asp1717His) single nucleotide variant not provided [RCV003692974] Chr9:138096538 [GRCh38]
Chr9:140990990 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6726C>T (p.Asp2242=) single nucleotide variant not provided [RCV003739976] Chr9:138121705 [GRCh38]
Chr9:141016157 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4792-6C>T single nucleotide variant not provided [RCV003688761] Chr9:138073995 [GRCh38]
Chr9:140968447 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5222+17G>A single nucleotide variant not provided [RCV003690894] Chr9:138096628 [GRCh38]
Chr9:140991080 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1244-20_1244-19del deletion not provided [RCV003690900] Chr9:137957577..137957578 [GRCh38]
Chr9:140852029..140852030 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.816C>A (p.Ala272=) single nucleotide variant not provided [RCV003713116] Chr9:137917281 [GRCh38]
Chr9:140811733 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4196A>T (p.Tyr1399Phe) single nucleotide variant not provided [RCV003714552] Chr9:138058138 [GRCh38]
Chr9:140952590 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2514T>A (p.Ala838=) single nucleotide variant not provided [RCV003662095] Chr9:138023257 [GRCh38]
Chr9:140917709 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6238+17C>T single nucleotide variant not provided [RCV003695557] Chr9:138120389 [GRCh38]
Chr9:141014841 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4725G>A (p.Leu1575=) single nucleotide variant not provided [RCV003662140] Chr9:138073538 [GRCh38]
Chr9:140967990 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6922C>T (p.Arg2308Cys) single nucleotide variant not provided [RCV003693266] Chr9:138121901 [GRCh38]
Chr9:141016353 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5967C>G (p.Pro1989=) single nucleotide variant not provided [RCV003879631] Chr9:138118705 [GRCh38]
Chr9:141013157 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3287-17_3287-16del deletion not provided [RCV003578027] Chr9:138043757..138043758 [GRCh38]
Chr9:140938209..140938210 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1962C>T (p.Leu654=) single nucleotide variant not provided [RCV003578047] Chr9:137986842 [GRCh38]
Chr9:140881294 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1620C>T (p.Ser540=) single nucleotide variant not provided [RCV003877102] Chr9:137975983 [GRCh38]
Chr9:140870435 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3084C>T (p.Asp1028=) single nucleotide variant not provided [RCV003695026] Chr9:138024970 [GRCh38]
Chr9:140919422 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5650-17C>T single nucleotide variant not provided [RCV003713510] Chr9:138115535 [GRCh38]
Chr9:141009987 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1182G>A (p.Lys394=) single nucleotide variant not provided [RCV003574694] Chr9:137955809 [GRCh38]
Chr9:140850261 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5913+19T>C single nucleotide variant not provided [RCV003695122] Chr9:138118100 [GRCh38]
Chr9:141012552 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3085C>T (p.Leu1029=) single nucleotide variant not provided [RCV003693451] Chr9:138024971 [GRCh38]
Chr9:140919423 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3603+11T>C single nucleotide variant not provided [RCV003578603] Chr9:138047469 [GRCh38]
Chr9:140941921 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.840C>T (p.Asp280=) single nucleotide variant not provided [RCV003713275] Chr9:137917305 [GRCh38]
Chr9:140811757 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4792-15C>A single nucleotide variant not provided [RCV003660034] Chr9:138073986 [GRCh38]
Chr9:140968438 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6276A>G (p.Gly2092=) single nucleotide variant not provided [RCV003714128] Chr9:138120668 [GRCh38]
Chr9:141015120 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5421G>A (p.Leu1807=) single nucleotide variant not provided [RCV003578675] Chr9:138105800 [GRCh38]
Chr9:141000252 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6239-16_6239-14del microsatellite not provided [RCV003695613] Chr9:138120610..138120612 [GRCh38]
Chr9:141015062..141015064 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.775+13A>T single nucleotide variant not provided [RCV003830928] Chr9:137914819 [GRCh38]
Chr9:140809271 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.4791+19C>T single nucleotide variant not provided [RCV003662637] Chr9:138073623 [GRCh38]
Chr9:140968075 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2637C>T (p.Pro879=) single nucleotide variant not provided [RCV003824687] Chr9:138023380 [GRCh38]
Chr9:140917832 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4792-4G>A single nucleotide variant not provided [RCV003545481] Chr9:138073997 [GRCh38]
Chr9:140968449 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4949+11C>A single nucleotide variant not provided [RCV003687550] Chr9:138075921 [GRCh38]
Chr9:140970373 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6825G>A (p.Glu2275=) single nucleotide variant not provided [RCV003695036] Chr9:138121804 [GRCh38]
Chr9:141016256 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3666G>T (p.Leu1222=) single nucleotide variant not provided [RCV003544078] Chr9:138049271 [GRCh38]
Chr9:140943723 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3006G>C (p.Thr1002=) single nucleotide variant not provided [RCV003696221] Chr9:138023749 [GRCh38]
Chr9:140918201 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4949+11C>T single nucleotide variant not provided [RCV003828229] Chr9:138075921 [GRCh38]
Chr9:140970373 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2092+11G>A single nucleotide variant not provided [RCV003578779] Chr9:138006895 [GRCh38]
Chr9:140901347 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6490-4G>T single nucleotide variant not provided [RCV003826513] Chr9:138121465 [GRCh38]
Chr9:141015917 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4106+10C>T single nucleotide variant not provided [RCV003574378] Chr9:138057879 [GRCh38]
Chr9:140952331 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3968+1G>A single nucleotide variant CACNA1B-related condition [RCV003919306]|not provided [RCV003662926] Chr9:138054007 [GRCh38]
Chr9:140948459 [GRCh37]
Chr9:9q34.3		 likely pathogenic
NM_000718.4(CACNA1B):c.6141G>A (p.Ala2047=) single nucleotide variant not provided [RCV003880361] Chr9:138120275 [GRCh38]
Chr9:141014727 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4593C>T (p.Phe1531=) single nucleotide variant not provided [RCV003688457] Chr9:138059662 [GRCh38]
Chr9:140954114 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2448G>A (p.Pro816=) single nucleotide variant not provided [RCV003877888] Chr9:138023191 [GRCh38]
Chr9:140917643 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2541T>A (p.Pro847=) single nucleotide variant not provided [RCV003574433] Chr9:138023284 [GRCh38]
Chr9:140917736 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2134C>T (p.Leu712=) single nucleotide variant not provided [RCV003688560] Chr9:138010051 [GRCh38]
Chr9:140904503 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4269G>A (p.Gly1423=) single nucleotide variant not provided [RCV003547430] Chr9:138058211 [GRCh38]
Chr9:140952663 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3732C>T (p.Ile1244=) single nucleotide variant not provided [RCV003661743] Chr9:138052113 [GRCh38]
Chr9:140946565 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5911C>T (p.Leu1971=) single nucleotide variant not provided [RCV003547956] Chr9:138118079 [GRCh38]
Chr9:141012531 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3321G>C (p.Gly1107=) single nucleotide variant not provided [RCV003827053] Chr9:138043808 [GRCh38]
Chr9:140938260 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4942C>T (p.Leu1648=) single nucleotide variant not provided [RCV003877766] Chr9:138075903 [GRCh38]
Chr9:140970355 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3384C>T (p.Ser1128=) single nucleotide variant not provided [RCV003665689] Chr9:138043871 [GRCh38]
Chr9:140938323 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3237T>C (p.His1079=) single nucleotide variant not provided [RCV003835880] Chr9:138025123 [GRCh38]
Chr9:140919575 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6873C>T (p.Ser2291=) single nucleotide variant not provided [RCV003832800] Chr9:138121852 [GRCh38]
Chr9:141016304 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2628C>T (p.Ser876=) single nucleotide variant not provided [RCV003835394] Chr9:138023371 [GRCh38]
Chr9:140917823 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2784C>G (p.Ala928=) single nucleotide variant not provided [RCV003852451] Chr9:138023527 [GRCh38]
Chr9:140917979 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3543+20G>C single nucleotide variant not provided [RCV003550145] Chr9:138047053 [GRCh38]
Chr9:140941505 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4674+14C>G single nucleotide variant not provided [RCV003548363] Chr9:138069777 [GRCh38]
Chr9:140964229 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6239-8C>T single nucleotide variant not provided [RCV003810765] Chr9:138120623 [GRCh38]
Chr9:141015075 [GRCh37]
Chr9:9q34.3		 likely benign
GRCh37/hg19 9q34.3(chr9:140014769-140930811)x3 copy number gain 9q34.3 microduplication-related neurodevelopmental disorder [RCV003761662] Chr9:140014769..140930811 [GRCh37]
Chr9:9q34.3		 likely pathogenic
NM_000718.4(CACNA1B):c.1158C>T (p.Asn386=) single nucleotide variant not provided [RCV003664918] Chr9:137955785 [GRCh38]
Chr9:140850237 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4792-5C>T single nucleotide variant not provided [RCV003698501] Chr9:138073996 [GRCh38]
Chr9:140968448 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2134C>G (p.Leu712Val) single nucleotide variant not provided [RCV003703410] Chr9:138010051 [GRCh38]
Chr9:140904503 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.1901+13G>T single nucleotide variant not provided [RCV003667703] Chr9:137986557 [GRCh38]
Chr9:140881009 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4107-10C>A single nucleotide variant not provided [RCV003664910] Chr9:138058039 [GRCh38]
Chr9:140952491 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1656+18T>G single nucleotide variant not provided [RCV003701550] Chr9:137976037 [GRCh38]
Chr9:140870489 [GRCh37]
Chr9:9q34.3		 likely benign
GRCh37/hg19 9q34.3(chr9:139972953-140954193)x3 copy number gain 9q34.3 microduplication-related neurodevelopmental disorder [RCV003761661] Chr9:139972953..140954193 [GRCh37]
Chr9:9q34.3		 likely pathogenic
NM_000718.4(CACNA1B):c.2706G>A (p.Ala902=) single nucleotide variant not provided [RCV003837086] Chr9:138023449 [GRCh38]
Chr9:140917901 [GRCh37]
Chr9:9q34.3		 likely benign
GRCh37/hg19 9q34.3(chr9:140452620-140776505)x3 copy number gain 9q34.3 microduplication-related neurodevelopmental disorder [RCV003761666] Chr9:140452620..140776505 [GRCh37]
Chr9:9q34.3		 likely pathogenic
GRCh37/hg19 9q34.3(chr9:140372234-140905328)x3 copy number gain 9q34.3 microduplication-related neurodevelopmental disorder [RCV003761667] Chr9:140372234..140905328 [GRCh37]
Chr9:9q34.3		 likely pathogenic
NM_000718.4(CACNA1B):c.4675-18A>G single nucleotide variant not provided [RCV003700035] Chr9:138073470 [GRCh38]
Chr9:140967922 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4876C>T (p.Leu1626=) single nucleotide variant not provided [RCV003670056] Chr9:138075837 [GRCh38]
Chr9:140970289 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.775+18C>G single nucleotide variant not provided [RCV003670073] Chr9:137914824 [GRCh38]
Chr9:140809276 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5419C>T (p.Leu1807=) single nucleotide variant not provided [RCV003671471] Chr9:138105798 [GRCh38]
Chr9:141000250 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1896G>T (p.Gly632=) single nucleotide variant not provided [RCV003816201] Chr9:137986539 [GRCh38]
Chr9:140880991 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4176G>A (p.Leu1392=) single nucleotide variant CACNA1B-related condition [RCV003981156]|not provided [RCV003840034] Chr9:138058118 [GRCh38]
Chr9:140952570 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6239-4C>A single nucleotide variant not provided [RCV003580748] Chr9:138120627 [GRCh38]
Chr9:141015079 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2160+15G>A single nucleotide variant not provided [RCV003816869] Chr9:138010092 [GRCh38]
Chr9:140904544 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3068+15G>C single nucleotide variant not provided [RCV003703207] Chr9:138023826 [GRCh38]
Chr9:140918278 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4995G>A (p.Leu1665=) single nucleotide variant not provided [RCV003840435] Chr9:138078159 [GRCh38]
Chr9:140972611 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3969-4del deletion not provided [RCV003668359] Chr9:138057727 [GRCh38]
Chr9:140952179 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3710+10G>T single nucleotide variant not provided [RCV003700966] Chr9:138049325 [GRCh38]
Chr9:140943777 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2610G>A (p.Glu870=) single nucleotide variant not provided [RCV003838415] Chr9:138023353 [GRCh38]
Chr9:140917805 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3604-19G>A single nucleotide variant not provided [RCV003667428] Chr9:138049190 [GRCh38]
Chr9:140943642 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2280C>T (p.Asn760=) single nucleotide variant not provided [RCV003701096] Chr9:138023023 [GRCh38]
Chr9:140917475 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.882C>A (p.Ile294=) single nucleotide variant not provided [RCV003668342] Chr9:137917347 [GRCh38]
Chr9:140811799 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1954G>T (p.Ala652Ser) single nucleotide variant not provided [RCV003666452] Chr9:137986834 [GRCh38]
Chr9:140881286 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5778-10T>C single nucleotide variant not provided [RCV003702471] Chr9:138117936 [GRCh38]
Chr9:141012388 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4474-10C>A single nucleotide variant not provided [RCV003833446] Chr9:138059069 [GRCh38]
Chr9:140953521 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5475_5476del (p.Ser1826fs) deletion not provided [RCV003699447] Chr9:138112443..138112444 [GRCh38]
Chr9:141006895..141006896 [GRCh37]
Chr9:9q34.3		 pathogenic
NM_000718.4(CACNA1B):c.4674+11C>T single nucleotide variant not provided [RCV003839367] Chr9:138069774 [GRCh38]
Chr9:140964226 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6435C>T (p.Leu2145=) single nucleotide variant not provided [RCV003855660] Chr9:138120827 [GRCh38]
Chr9:141015279 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1701G>A (p.Lys567=) single nucleotide variant not provided [RCV003701092] Chr9:137984182 [GRCh38]
Chr9:140878634 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6708C>T (p.Asn2236=) single nucleotide variant not provided [RCV003724607] Chr9:138121687 [GRCh38]
Chr9:141016139 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3710+19G>T single nucleotide variant not provided [RCV003673529] Chr9:138049334 [GRCh38]
Chr9:140943786 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.622+11C>T single nucleotide variant not provided [RCV003817295] Chr9:137913282 [GRCh38]
Chr9:140807734 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6948C>T (p.Cys2316=) single nucleotide variant not provided [RCV003725544] Chr9:138121927 [GRCh38]
Chr9:141016379 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2013C>T (p.His671=) single nucleotide variant not provided [RCV003832910] Chr9:138006805 [GRCh38]
Chr9:140901257 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2874C>T (p.His958=) single nucleotide variant not provided [RCV003834952] Chr9:138023617 [GRCh38]
Chr9:140918069 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2250G>A (p.Ala750=) single nucleotide variant not provided [RCV003854592] Chr9:138013218 [GRCh38]
Chr9:140907670 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5429-20C>T single nucleotide variant not provided [RCV003664390] Chr9:138112378 [GRCh38]
Chr9:141006830 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4203G>C (p.Val1401=) single nucleotide variant not provided [RCV003671232] Chr9:138058145 [GRCh38]
Chr9:140952597 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.531-19T>C single nucleotide variant not provided [RCV003837532] Chr9:137913161 [GRCh38]
Chr9:140807613 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2703G>A (p.Glu901=) single nucleotide variant not provided [RCV003560653] Chr9:138023446 [GRCh38]
Chr9:140917898 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2802C>T (p.Arg934=) single nucleotide variant not provided [RCV003724529] Chr9:138023545 [GRCh38]
Chr9:140917997 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2718C>T (p.Arg906=) single nucleotide variant not provided [RCV003855107] Chr9:138023461 [GRCh38]
Chr9:140917913 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6031-17C>T single nucleotide variant not provided [RCV003701030] Chr9:138120148 [GRCh38]
Chr9:141014600 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1709G>A (p.Ser570Asn) single nucleotide variant not provided [RCV003671064] Chr9:137984190 [GRCh38]
Chr9:140878642 [GRCh37]
Chr9:9q34.3		 uncertain significance
GRCh37/hg19 9q34.3(chr9:139942000-141074000)x3 copy number gain 9q34.3 microduplication-related neurodevelopmental disorder [RCV003761658] Chr9:139942000..141074000 [GRCh37]
Chr9:9q34.3		 likely pathogenic
GRCh37/hg19 9q34.3(chr9:140498690-141025921)x3 copy number gain 9q34.3 microduplication-related neurodevelopmental disorder [RCV003761659] Chr9:140498690..141025921 [GRCh37]
Chr9:9q34.3		 likely pathogenic
NM_000718.4(CACNA1B):c.2565C>T (p.Arg855=) single nucleotide variant not provided [RCV003815145] Chr9:138023308 [GRCh38]
Chr9:140917760 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2093-3C>T single nucleotide variant not provided [RCV003667143] Chr9:138010007 [GRCh38]
Chr9:140904459 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6287C>T (p.Thr2096Ile) single nucleotide variant not provided [RCV003814695] Chr9:138120679 [GRCh38]
Chr9:141015131 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4353G>C (p.Arg1451=) single nucleotide variant not provided [RCV003672260] Chr9:138058613 [GRCh38]
Chr9:140953065 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4497C>T (p.Tyr1499=) single nucleotide variant not provided [RCV003548675] Chr9:138059102 [GRCh38]
Chr9:140953554 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.744G>A (p.Lys248=) single nucleotide variant not provided [RCV003667235] Chr9:137914775 [GRCh38]
Chr9:140809227 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4106+16G>A single nucleotide variant not provided [RCV003835465] Chr9:138057885 [GRCh38]
Chr9:140952337 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2502C>T (p.Ala834=) single nucleotide variant not provided [RCV003701619] Chr9:138023245 [GRCh38]
Chr9:140917697 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.966+23_966+41del deletion not provided [RCV003832871] Chr9:137917446..137917464 [GRCh38]
Chr9:140811898..140811916 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1657-7G>A single nucleotide variant not provided [RCV003815845] Chr9:137984131 [GRCh38]
Chr9:140878583 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4674+1G>C single nucleotide variant not provided [RCV003560270] Chr9:138069764 [GRCh38]
Chr9:140964216 [GRCh37]
Chr9:9q34.3		 likely pathogenic
NM_000718.4(CACNA1B):c.4080A>G (p.Thr1360=) single nucleotide variant not provided [RCV003698683] Chr9:138057843 [GRCh38]
Chr9:140952295 [GRCh37]
Chr9:9q34.3		 likely benign
GRCh37/hg19 9q34.3(chr9:139685408-141050580)x3 copy number gain 9q34.3 microduplication-related neurodevelopmental disorder [RCV003761660] Chr9:139685408..141050580 [GRCh37]
Chr9:9q34.3		 likely pathogenic
GRCh37/hg19 9q34.3(chr9:140351824-140772481)x3 copy number gain 9q34.3 microduplication-related neurodevelopmental disorder [RCV003761668] Chr9:140351824..140772481 [GRCh37]
Chr9:9q34.3		 likely pathogenic
NM_000718.4(CACNA1B):c.6239-19T>C single nucleotide variant not provided [RCV003549124] Chr9:138120612 [GRCh38]
Chr9:141015064 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3507T>G (p.Ala1169=) single nucleotide variant not provided [RCV003724008] Chr9:138046997 [GRCh38]
Chr9:140941449 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3522C>T (p.Arg1174=) single nucleotide variant not provided [RCV003724403] Chr9:138047012 [GRCh38]
Chr9:140941464 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4209T>C (p.Phe1403=) single nucleotide variant not provided [RCV003700734] Chr9:138058151 [GRCh38]
Chr9:140952603 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4309-12C>T single nucleotide variant not provided [RCV003560554] Chr9:138058557 [GRCh38]
Chr9:140953009 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3525A>G (p.Thr1175=) single nucleotide variant not provided [RCV003857610] Chr9:138047015 [GRCh38]
Chr9:140941467 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4107-13C>T single nucleotide variant not provided [RCV003857695] Chr9:138058036 [GRCh38]
Chr9:140952488 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5584G>A (p.Asp1862Asn) single nucleotide variant not provided [RCV003729027] Chr9:138114425 [GRCh38]
Chr9:141008877 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2458G>A (p.Glu820Lys) single nucleotide variant not provided [RCV003861653] Chr9:138023201 [GRCh38]
Chr9:140917653 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.6490-4G>A single nucleotide variant not provided [RCV003681868] Chr9:138121465 [GRCh38]
Chr9:141015917 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3111G>T (p.Val1037=) single nucleotide variant not provided [RCV003705036] Chr9:138024997 [GRCh38]
Chr9:140919449 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4272C>T (p.Asp1424=) single nucleotide variant not provided [RCV003675791] Chr9:138058214 [GRCh38]
Chr9:140952666 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3769C>A (p.Arg1257=) single nucleotide variant not provided [RCV003567780] Chr9:138052150 [GRCh38]
Chr9:140946602 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3687C>T (p.Gly1229=) single nucleotide variant not provided [RCV003859297] Chr9:138049292 [GRCh38]
Chr9:140943744 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.639C>G (p.Leu213=) single nucleotide variant not provided [RCV003563529] Chr9:137914670 [GRCh38]
Chr9:140809122 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5222+13T>C single nucleotide variant not provided [RCV003676227] Chr9:138096624 [GRCh38]
Chr9:140991076 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5536+20A>G single nucleotide variant not provided [RCV003863039] Chr9:138112525 [GRCh38]
Chr9:141006977 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5537-20A>C single nucleotide variant not provided [RCV003675564] Chr9:138114358 [GRCh38]
Chr9:141008810 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6819G>C (p.Leu2273=) single nucleotide variant not provided [RCV003676850] Chr9:138121798 [GRCh38]
Chr9:141016250 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4585-12C>G single nucleotide variant not provided [RCV003845967] Chr9:138059642 [GRCh38]
Chr9:140954094 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6126A>G (p.Pro2042=) single nucleotide variant not provided [RCV003734550] Chr9:138120260 [GRCh38]
Chr9:141014712 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1506G>T (p.Val502=) single nucleotide variant not provided [RCV003866413] Chr9:137971555 [GRCh38]
Chr9:140866007 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5070C>G (p.Ser1690=) single nucleotide variant not provided [RCV003674860] Chr9:138078234 [GRCh38]
Chr9:140972686 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5222+12G>C single nucleotide variant not provided [RCV003676226] Chr9:138096623 [GRCh38]
Chr9:140991075 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4386T>C (p.Tyr1462=) single nucleotide variant not provided [RCV003554374] Chr9:138058646 [GRCh38]
Chr9:140953098 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3414-17C>T single nucleotide variant not provided [RCV003862429] Chr9:138046887 [GRCh38]
Chr9:140941339 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6178A>C (p.Arg2060=) single nucleotide variant not provided [RCV003864151] Chr9:138120312 [GRCh38]
Chr9:141014764 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2586G>C (p.Ala862=) single nucleotide variant not provided [RCV003682783] Chr9:138023329 [GRCh38]
Chr9:140917781 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5376G>A (p.Thr1792=) single nucleotide variant not provided [RCV003862036] Chr9:138105755 [GRCh38]
Chr9:141000207 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1333+16T>C single nucleotide variant not provided [RCV003820200] Chr9:137957703 [GRCh38]
Chr9:140852155 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6732C>T (p.Leu2244=) single nucleotide variant not provided [RCV003846871] Chr9:138121711 [GRCh38]
Chr9:141016163 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4332C>A (p.Ile1444=) single nucleotide variant not provided [RCV003735782] Chr9:138058592 [GRCh38]
Chr9:140953044 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.594G>A (p.Arg198=) single nucleotide variant not provided [RCV003841520] Chr9:137913243 [GRCh38]
Chr9:140807695 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1092G>A (p.Glu364=) single nucleotide variant not provided [RCV003818472] Chr9:137955719 [GRCh38]
Chr9:140850171 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4068G>C (p.Leu1356=) single nucleotide variant not provided [RCV003706105] Chr9:138057831 [GRCh38]
Chr9:140952283 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2556C>T (p.His852=) single nucleotide variant not provided [RCV003675349] Chr9:138023299 [GRCh38]
Chr9:140917751 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4309-16C>T single nucleotide variant not provided [RCV003821413] Chr9:138058553 [GRCh38]
Chr9:140953005 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1143C>T (p.Ile381=) single nucleotide variant not provided [RCV003823118] Chr9:137955770 [GRCh38]
Chr9:140850222 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6396C>A (p.Arg2132=) single nucleotide variant not provided [RCV003734230] Chr9:138120788 [GRCh38]
Chr9:141015240 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3068+7C>T single nucleotide variant not provided [RCV003859549] Chr9:138023818 [GRCh38]
Chr9:140918270 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.966+18C>T single nucleotide variant not provided [RCV003847264] Chr9:137917449 [GRCh38]
Chr9:140811901 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6108C>T (p.Ser2036=) single nucleotide variant not provided [RCV003729632] Chr9:138120242 [GRCh38]
Chr9:141014694 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3413+14C>T single nucleotide variant not provided [RCV003568480] Chr9:138043914 [GRCh38]
Chr9:140938366 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3969-16A>G single nucleotide variant not provided [RCV003818493] Chr9:138057716 [GRCh38]
Chr9:140952168 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1769+10C>G single nucleotide variant not provided [RCV003863785] Chr9:137984260 [GRCh38]
Chr9:140878712 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1290C>T (p.His430=) single nucleotide variant not provided [RCV003859536] Chr9:137957644 [GRCh38]
Chr9:140852096 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4939C>T (p.Leu1647=) single nucleotide variant not provided [RCV003867201] Chr9:138075900 [GRCh38]
Chr9:140970352 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1704G>A (p.Pro568=) single nucleotide variant not provided [RCV003721994] Chr9:137984185 [GRCh38]
Chr9:140878637 [GRCh37]
Chr9:9q34.3		 likely benign
GRCh37/hg19 9q34.3(chr9:140716759-141020389)x3 copy number gain not specified [RCV003986845] Chr9:140716759..141020389 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.2980_2982del (p.Lys994del) deletion not provided [RCV003844666] Chr9:138023721..138023723 [GRCh38]
Chr9:140918173..140918175 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5319+12C>T single nucleotide variant not provided [RCV003684102] Chr9:138102819 [GRCh38]
Chr9:140997271 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3808-12C>G single nucleotide variant not provided [RCV003719375] Chr9:138053834 [GRCh38]
Chr9:140948286 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4791+16G>A single nucleotide variant not provided [RCV003709942] Chr9:138073620 [GRCh38]
Chr9:140968072 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5289G>A (p.Gly1763=) single nucleotide variant not provided [RCV003871087] Chr9:138102777 [GRCh38]
Chr9:140997229 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4920G>A (p.Thr1640=) single nucleotide variant not provided [RCV003722702] Chr9:138075881 [GRCh38]
Chr9:140970333 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1901+13G>A single nucleotide variant not provided [RCV003843688] Chr9:137986557 [GRCh38]
Chr9:140881009 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2646G>C (p.Arg882=) single nucleotide variant not provided [RCV003681076] Chr9:138023389 [GRCh38]
Chr9:140917841 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.947G>A (p.Trp316Ter) single nucleotide variant not provided [RCV003682933] Chr9:137917412 [GRCh38]
Chr9:140811864 [GRCh37]
Chr9:9q34.3		 pathogenic
NM_000718.4(CACNA1B):c.1965T>C (p.Thr655=) single nucleotide variant not provided [RCV003858803] Chr9:137986845 [GRCh38]
Chr9:140881297 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2822A>G (p.Gln941Arg) single nucleotide variant not provided [RCV003720300] Chr9:138023565 [GRCh38]
Chr9:140918017 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.3321del (p.Lys1108fs) deletion not provided [RCV003684567] Chr9:138043805 [GRCh38]
Chr9:140938257 [GRCh37]
Chr9:9q34.3		 pathogenic
NM_000718.4(CACNA1B):c.6300G>A (p.Arg2100=) single nucleotide variant not provided [RCV003862847] Chr9:138120692 [GRCh38]
Chr9:141015144 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6114C>G (p.Thr2038=) single nucleotide variant not provided [RCV003720159] Chr9:138120248 [GRCh38]
Chr9:141014700 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.531-15_531-13del deletion not provided [RCV003681738] Chr9:137913163..137913165 [GRCh38]
Chr9:140807615..140807617 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4785C>T (p.Ser1595=) single nucleotide variant not provided [RCV003823935] Chr9:138073598 [GRCh38]
Chr9:140968050 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3531G>T (p.Ser1177=) single nucleotide variant not provided [RCV003870903] Chr9:138047021 [GRCh38]
Chr9:140941473 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.4656A>T (p.Val1552=) single nucleotide variant not provided [RCV003820652] Chr9:138059725 [GRCh38]
Chr9:140954177 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3858G>A (p.Leu1286=) single nucleotide variant not provided [RCV003682010] Chr9:138053896 [GRCh38]
Chr9:140948348 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1203C>T (p.Ala401=) single nucleotide variant not provided [RCV003722516] Chr9:137956787 [GRCh38]
Chr9:140851239 [GRCh37]
Chr9:9q34.3		 likely benign
GRCh37/hg19 9q34.3(chr9:140705084-141020389)x1 copy number loss not specified [RCV003986822] Chr9:140705084..141020389 [GRCh37]
Chr9:9q34.3		 pathogenic
NM_000718.4(CACNA1B):c.3624G>C (p.Leu1208=) single nucleotide variant not provided [RCV003861001] Chr9:138049229 [GRCh38]
Chr9:140943681 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1140G>A (p.Gln380=) single nucleotide variant not provided [RCV003729576] Chr9:137955767 [GRCh38]
Chr9:140850219 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2736C>T (p.Pro912=) single nucleotide variant not provided [RCV003731184] Chr9:138023479 [GRCh38]
Chr9:140917931 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5364T>G (p.Thr1788=) single nucleotide variant not provided [RCV003722777] Chr9:138105743 [GRCh38]
Chr9:141000195 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5914-10G>A single nucleotide variant not provided [RCV003675789] Chr9:138118642 [GRCh38]
Chr9:141013094 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5094+15C>T single nucleotide variant not provided [RCV003843427] Chr9:138078273 [GRCh38]
Chr9:140972725 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3068+18C>G single nucleotide variant not provided [RCV003675823] Chr9:138023829 [GRCh38]
Chr9:140918281 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4503G>A (p.Leu1501=) single nucleotide variant not provided [RCV003858343] Chr9:138059108 [GRCh38]
Chr9:140953560 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4977G>A (p.Glu1659=) single nucleotide variant not provided [RCV003720363] Chr9:138078141 [GRCh38]
Chr9:140972593 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1544-13C>T single nucleotide variant not provided [RCV003868652] Chr9:137975894 [GRCh38]
Chr9:140870346 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6969T>A (p.Gly2323=) single nucleotide variant not provided [RCV003722811] Chr9:138121948 [GRCh38]
Chr9:141016400 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.775+18C>T single nucleotide variant not provided [RCV003670883] Chr9:137914824 [GRCh38]
Chr9:140809276 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2019C>T (p.Ile673=) single nucleotide variant not provided [RCV003728586] Chr9:138006811 [GRCh38]
Chr9:140901263 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4674+18G>C single nucleotide variant not provided [RCV003861823] Chr9:138069781 [GRCh38]
Chr9:140964233 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5382G>A (p.Thr1794=) single nucleotide variant not provided [RCV003719523] Chr9:138105761 [GRCh38]
Chr9:141000213 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2577G>A (p.Lys859=) single nucleotide variant not provided [RCV003719529] Chr9:138023320 [GRCh38]
Chr9:140917772 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6312C>G (p.Arg2104=) single nucleotide variant not provided [RCV003853835] Chr9:138120704 [GRCh38]
Chr9:141015156 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3710+19G>C single nucleotide variant not provided [RCV003684441] Chr9:138049334 [GRCh38]
Chr9:140943786 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1125G>T (p.Leu375=) single nucleotide variant not provided [RCV003552654] Chr9:137955752 [GRCh38]
Chr9:140850204 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5835G>A (p.Gln1945=) single nucleotide variant not provided [RCV003847915] Chr9:138118003 [GRCh38]
Chr9:141012455 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3027G>A (p.Val1009=) single nucleotide variant not provided [RCV003847955] Chr9:138023770 [GRCh38]
Chr9:140918222 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6747C>T (p.Ala2249=) single nucleotide variant not provided [RCV003685552] Chr9:138121726 [GRCh38]
Chr9:141016178 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.623-15C>A single nucleotide variant not provided [RCV003862585] Chr9:137914639 [GRCh38]
Chr9:140809091 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6606C>T (p.Thr2202=) single nucleotide variant not provided [RCV003848189] Chr9:138121585 [GRCh38]
Chr9:141016037 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1553_1554del (p.Glu518fs) microsatellite not provided [RCV003857869] Chr9:137975914..137975915 [GRCh38]
Chr9:140870366..140870367 [GRCh37]
Chr9:9q34.3		 pathogenic
NM_000718.4(CACNA1B):c.3417C>T (p.Leu1139=) single nucleotide variant not provided [RCV003718619] Chr9:138046907 [GRCh38]
Chr9:140941359 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6933C>T (p.Pro2311=) single nucleotide variant not provided [RCV003564352] Chr9:138121912 [GRCh38]
Chr9:141016364 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2161-6A>T single nucleotide variant not provided [RCV003568364] Chr9:138013123 [GRCh38]
Chr9:140907575 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6474G>C (p.Pro2158=) single nucleotide variant not provided [RCV003708865] Chr9:138120866 [GRCh38]
Chr9:141015318 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3561T>C (p.Asp1187=) single nucleotide variant not provided [RCV003865565] Chr9:138047416 [GRCh38]
Chr9:140941868 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5094+7C>T single nucleotide variant not provided [RCV003853221] Chr9:138078265 [GRCh38]
Chr9:140972717 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.999G>A (p.Trp333Ter) single nucleotide variant not provided [RCV003682558] Chr9:137952306 [GRCh38]
Chr9:140846758 [GRCh37]
Chr9:9q34.3		 pathogenic
NM_000718.4(CACNA1B):c.6490-18T>C single nucleotide variant not provided [RCV003844212] Chr9:138121451 [GRCh38]
Chr9:141015903 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5428+18G>A single nucleotide variant not provided [RCV003862566] Chr9:138105825 [GRCh38]
Chr9:141000277 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5778-13T>G single nucleotide variant not provided [RCV003675806] Chr9:138117933 [GRCh38]
Chr9:141012385 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1186+10C>T single nucleotide variant not provided [RCV003732285] Chr9:137955823 [GRCh38]
Chr9:140850275 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3366G>A (p.Arg1122=) single nucleotide variant not provided [RCV003670630] Chr9:138043853 [GRCh38]
Chr9:140938305 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4038T>C (p.Phe1346=) single nucleotide variant not provided [RCV003842030] Chr9:138057801 [GRCh38]
Chr9:140952253 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3068+15G>A single nucleotide variant not provided [RCV003859386] Chr9:138023826 [GRCh38]
Chr9:140918278 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6780G>A (p.Leu2260=) single nucleotide variant not provided [RCV003564776] Chr9:138121759 [GRCh38]
Chr9:141016211 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5537-8T>A single nucleotide variant not provided [RCV003674678] Chr9:138114370 [GRCh38]
Chr9:141008822 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5505G>A (p.Lys1835=) single nucleotide variant not provided [RCV003674704] Chr9:138112474 [GRCh38]
Chr9:141006926 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4522A>G (p.Ile1508Val) single nucleotide variant not provided [RCV003732670] Chr9:138059127 [GRCh38]
Chr9:140953579 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.780G>A (p.Ala260=) single nucleotide variant not provided [RCV003553313] Chr9:137917245 [GRCh38]
Chr9:140811697 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5553G>A (p.Val1851=) single nucleotide variant not provided [RCV003864440] Chr9:138114394 [GRCh38]
Chr9:141008846 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5913+12del deletion not provided [RCV003864441] Chr9:138118091 [GRCh38]
Chr9:141012543 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.996C>T (p.Asn332=) single nucleotide variant not provided [RCV003730837] Chr9:137952303 [GRCh38]
Chr9:140846755 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5818G>A (p.Gly1940Ser) single nucleotide variant not provided [RCV003707562] Chr9:138117986 [GRCh38]
Chr9:141012438 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.5222+10_5222+11insTGAATACGA insertion not provided [RCV003676225] Chr9:138096621..138096622 [GRCh38]
Chr9:140991073..140991074 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6000C>T (p.Ala2000=) single nucleotide variant not provided [RCV003731665] Chr9:138118738 [GRCh38]
Chr9:141013190 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6453G>T (p.Ser2151=) single nucleotide variant not provided [RCV003676093] Chr9:138120845 [GRCh38]
Chr9:141015297 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.2161-16C>T single nucleotide variant not provided [RCV003677342] Chr9:138013113 [GRCh38]
Chr9:140907565 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.3544-14C>T single nucleotide variant not provided [RCV003862054] Chr9:138047385 [GRCh38]
Chr9:140941837 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5778-5C>T single nucleotide variant not provided [RCV003847251] Chr9:138117941 [GRCh38]
Chr9:141012393 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5222+8A>G single nucleotide variant not provided [RCV003676224] Chr9:138096619 [GRCh38]
Chr9:140991071 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.5650-5T>G single nucleotide variant not provided [RCV003733457] Chr9:138115547 [GRCh38]
Chr9:141009999 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.1974+8A>G single nucleotide variant not provided [RCV003736237] Chr9:137986862 [GRCh38]
Chr9:140881314 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.966+10G>A single nucleotide variant not provided [RCV003821559] Chr9:137917441 [GRCh38]
Chr9:140811893 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.703C>A (p.Leu235Ile) single nucleotide variant not provided [RCV003718615] Chr9:137914734 [GRCh38]
Chr9:140809186 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_000718.4(CACNA1B):c.4791+12G>C single nucleotide variant not provided [RCV003845471] Chr9:138073616 [GRCh38]
Chr9:140968068 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4782G>A (p.Gln1594=) single nucleotide variant not provided [RCV003708376] Chr9:138073595 [GRCh38]
Chr9:140968047 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6129C>A (p.Pro2043=) single nucleotide variant not provided [RCV003841469] Chr9:138120263 [GRCh38]
Chr9:141014715 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.-7G>T single nucleotide variant CACNA1B-related condition [RCV003898932] Chr9:137877927 [GRCh38]
Chr9:140772379 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.4527G>A (p.Val1509=) single nucleotide variant not provided [RCV003887404] Chr9:138059132 [GRCh38]
Chr9:140953584 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.486G>A (p.Leu162=) single nucleotide variant CACNA1B-related condition [RCV003921466] Chr9:137882839 [GRCh38]
Chr9:140777291 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.304C>T (p.Leu102=) single nucleotide variant CACNA1B-related condition [RCV003893627] Chr9:137879073 [GRCh38]
Chr9:140773525 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.284+8_284+9del deletion CACNA1B-related condition [RCV003931911] Chr9:137878225..137878226 [GRCh38]
Chr9:140772677..140772678 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.284+6_284+7insAT insertion CACNA1B-related condition [RCV003931951] Chr9:137878223..137878224 [GRCh38]
Chr9:140772675..140772676 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.6149ACC[4] (p.His2054del) microsatellite CACNA1B-related condition [RCV003909265] Chr9:138120282..138120284 [GRCh38]
Chr9:141014734..141014736 [GRCh37]
Chr9:9q34.3		 benign
NM_000718.4(CACNA1B):c.6238+4C>T single nucleotide variant CACNA1B-related condition [RCV003901586] Chr9:138120376 [GRCh38]
Chr9:141014828 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.108G>A (p.Gly36=) single nucleotide variant CACNA1B-related condition [RCV003911845] Chr9:137878041 [GRCh38]
Chr9:140772493 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.*8G>A single nucleotide variant CACNA1B-related condition [RCV003934061] Chr9:138122007 [GRCh38]
Chr9:141016459 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.450C>A (p.Ile150=) single nucleotide variant CACNA1B-related condition [RCV003954825] Chr9:137882803 [GRCh38]
Chr9:140777255 [GRCh37]
Chr9:9q34.3		 likely benign
NM_000718.4(CACNA1B):c.414C>T (p.Ile138=) single nucleotide variant CACNA1B-related condition [RCV003896292] Chr9:137882767 [GRCh38]
Chr9:140777219 [GRCh37]
Chr9:9q34.3		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:8333
Count of miRNA genes:1103
Interacting mature miRNAs:1368
Transcripts:ENST00000277549, ENST00000277550, ENST00000277551, ENST00000371355, ENST00000371357, ENST00000371363, ENST00000371365, ENST00000371367, ENST00000371372, ENST00000413253, ENST00000545473
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
D9S2168  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379141,017,955 - 141,018,083UniSTSGRCh37
Build 369140,137,776 - 140,137,904RGDNCBI36
Celera9111,546,979 - 111,547,105RGD
Cytogenetic Map9q34UniSTS
HuRef9110,485,547 - 110,485,673UniSTS
Marshfield Genetic Map9168.98UniSTS
Marshfield Genetic Map9168.98RGD
deCODE Assembly Map9160.01UniSTS
GeneMap99-GB4 RH Map9423.8UniSTS
Whitehead-RH Map9507.7UniSTS
SHGC-32482  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379140,886,045 - 140,886,144UniSTSGRCh37
Build 369140,005,866 - 140,005,965RGDNCBI36
Celera9111,416,440 - 111,416,539RGD
Cytogenetic Map9q34UniSTS
HuRef9110,354,843 - 110,354,942UniSTS
GeneMap99-G3 RH Map94823.0UniSTS
D9S1090  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379140,798,430 - 140,798,561UniSTSGRCh37
Build 369139,918,251 - 139,918,382RGDNCBI36
Celera9111,331,064 - 111,331,195RGD
Cytogenetic Map9q34UniSTS
HuRef9110,266,446 - 110,266,577UniSTS
Whitehead-RH Map9502.4UniSTS
D9S325  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379140,980,350 - 140,980,439UniSTSGRCh37
Build 369140,100,171 - 140,100,260RGDNCBI36
Celera9111,509,372 - 111,509,461RGD
Cytogenetic Map9q34UniSTS
HuRef9110,447,940 - 110,448,029UniSTS
GDB:229346  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379140,986,879 - 140,987,342UniSTSGRCh37
Build 369140,106,700 - 140,107,163RGDNCBI36
Celera9111,515,901 - 111,516,364RGD
Cytogenetic Map9q34UniSTS
HuRef9110,454,464 - 110,454,927UniSTS
SHGC-148023  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379140,776,955 - 140,777,288UniSTSGRCh37
Build 369139,896,776 - 139,897,109RGDNCBI36
Cytogenetic Map9q34UniSTS
Cytogenetic Map9q34.3UniSTS
HuRef9110,244,972 - 110,245,305UniSTS
TNG Radiation Hybrid Map953981.0UniSTS
SHGC-153882  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379140,958,369 - 140,958,661UniSTSGRCh37
Build 369140,078,190 - 140,078,482RGDNCBI36
Celera9111,487,391 - 111,487,683RGD
Cytogenetic Map9q34UniSTS
HuRef9110,425,959 - 110,426,251UniSTS
CACNA1B_73  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379141,016,022 - 141,016,682UniSTSGRCh37
Build 369140,135,843 - 140,136,503RGDNCBI36
Celera9111,545,046 - 111,545,706RGD
HuRef9110,483,614 - 110,484,274UniSTS
RH69203  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379141,016,507 - 141,016,631UniSTSGRCh37
Build 369140,136,328 - 140,136,452RGDNCBI36
Celera9111,545,531 - 111,545,655RGD
Cytogenetic Map9q34UniSTS
HuRef9110,484,099 - 110,484,223UniSTS
GeneMap99-GB4 RH Map9427.36UniSTS
D9S218E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379140,809,114 - 140,809,177UniSTSGRCh37
Build 369139,928,935 - 139,928,998RGDNCBI36
Celera9111,341,747 - 111,341,810RGD
Cytogenetic Map9q34UniSTS
HuRef9110,277,132 - 110,277,195UniSTS
A004Y39  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379141,018,602 - 141,018,737UniSTSGRCh37
Build 369140,138,423 - 140,138,558RGDNCBI36
Celera9111,547,624 - 111,547,759RGD
Cytogenetic Map9q34UniSTS
HuRef9110,486,192 - 110,486,327UniSTS
GeneMap99-GB4 RH Map9420.96UniSTS
Whitehead-RH Map9504.7UniSTS
RH79907  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34UniSTS


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 pharyngeal arch
High
Medium 1 1 226 5 2 9 1687 1 270 57 1
Low 722 20 464 10 95 10 262 98 1334 15 483 422 3 1 37 30 1
Below cutoff 1591 2757 783 378 1299 225 3888 1947 661 147 617 973 157 1119 2650

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000277549   ⟹   ENSP00000277549
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,877,789 - 138,122,179 (+)Ensembl
RefSeq Acc Id: ENST00000277551   ⟹   ENSP00000277551
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,877,789 - 138,122,179 (+)Ensembl
RefSeq Acc Id: ENST00000371355   ⟹   ENSP00000360406
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,877,934 - 138,124,623 (+)Ensembl
RefSeq Acc Id: ENST00000371357   ⟹   ENSP00000360408
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,877,934 - 138,124,624 (+)Ensembl
RefSeq Acc Id: ENST00000371363   ⟹   ENSP00000360414
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,877,815 - 138,124,624 (+)Ensembl
RefSeq Acc Id: ENST00000371372   ⟹   ENSP00000360423
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,877,782 - 138,124,619 (+)Ensembl
RefSeq Acc Id: ENST00000413253   ⟹   ENSP00000413042
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9138,075,869 - 138,105,778 (+)Ensembl
RefSeq Acc Id: NM_000718   ⟹   NP_000709
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,877,782 - 138,124,619 (+)NCBI
GRCh379140,772,241 - 141,019,076 (+)ENTREZGENE
Build 369139,892,062 - 140,136,449 (+)NCBI Archive
HuRef9110,240,583 - 110,486,666 (+)ENTREZGENE
CHM1_19140,920,972 - 141,166,813 (+)NCBI
T2T-CHM13v2.09150,142,926 - 150,389,904 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001243812   ⟹   NP_001230741
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,877,782 - 138,124,619 (+)NCBI
GRCh379140,772,241 - 141,019,076 (+)NCBI
HuRef9110,240,583 - 110,486,666 (+)NCBI
CHM1_19140,920,972 - 141,166,813 (+)NCBI
T2T-CHM13v2.09150,142,926 - 150,389,904 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_000709   ⟸   NM_000718
- Peptide Label: isoform 1
- UniProtKB: B1AQK5 (UniProtKB/Swiss-Prot),   Q00975 (UniProtKB/Swiss-Prot),   B1AQK6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001230741   ⟸   NM_001243812
- Peptide Label: isoform 2
- UniProtKB: B1AQK6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000360406   ⟸   ENST00000371355
RefSeq Acc Id: ENSP00000360408   ⟸   ENST00000371357
RefSeq Acc Id: ENSP00000360414   ⟸   ENST00000371363
RefSeq Acc Id: ENSP00000360423   ⟸   ENST00000371372
RefSeq Acc Id: ENSP00000413042   ⟸   ENST00000413253
RefSeq Acc Id: ENSP00000277549   ⟸   ENST00000277549
RefSeq Acc Id: ENSP00000277551   ⟸   ENST00000277551
Protein Domains
EF-hand   Ion transport   Voltage-dependent L-type calcium channel IQ-

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q00975-F1-model_v2 AlphaFold Q00975 1-2339 view protein structure

Promoters
RGD ID:7216829
Promoter ID:EPDNEW_H14160
Type:initiation region
Name:CACNA1B_1
Description:calcium voltage-gated channel subunit alpha1 B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,877,782 - 137,877,842EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1389 AgrOrtholog
COSMIC CACNA1B COSMIC
Ensembl Genes ENSG00000148408 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000277551 ENTREZGENE
  ENST00000277551.6 UniProtKB/Swiss-Prot
  ENST00000371357.5 UniProtKB/TrEMBL
  ENST00000371363.5 UniProtKB/TrEMBL
  ENST00000371372 ENTREZGENE
  ENST00000371372.6 UniProtKB/Swiss-Prot
  ENST00000413253.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.287.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.20.120.350 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6.10.250.2180 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6.10.250.2500 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF-hand UniProtKB/TrEMBL
GTEx ENSG00000148408 GTEx
HGNC ID HGNC:1389 ENTREZGENE
Human Proteome Map CACNA1B Human Proteome Map
InterPro EF_hand_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPHH_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ion_trans_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VDCC_a1su_IQ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VDCC_N_a1su UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VDCCAlpha1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Volt_channel_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:774 UniProtKB/Swiss-Prot
NCBI Gene 774 ENTREZGENE
OMIM 601012 OMIM
PANTHER PTHR45628:SF6 UniProtKB/TrEMBL
  VOLTAGE-DEPENDENT CALCIUM CHANNEL TYPE A SUBUNIT ALPHA-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VOLTAGE-DEPENDENT N-TYPE CALCIUM CHANNEL SUBUNIT ALPHA-1B UniProtKB/Swiss-Prot
Pfam Ca_chan_IQ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPHH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ion_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26008 PharmGKB
PRINTS CACHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NVDCCALPHA1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE EF_HAND_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Ca_chan_IQ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Voltage-gated potassium channels UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B1AQK5 ENTREZGENE
  B1AQK6 ENTREZGENE, UniProtKB/TrEMBL
  B1AQK7_HUMAN UniProtKB/TrEMBL
  CAC1B_HUMAN UniProtKB/Swiss-Prot
  H0Y7I8_HUMAN UniProtKB/TrEMBL
  Q00975 ENTREZGENE
  Q9HAT3_HUMAN UniProtKB/TrEMBL
  Q9HAT4_HUMAN UniProtKB/TrEMBL
  Q9HAT5_HUMAN UniProtKB/TrEMBL
  Q9HAT6_HUMAN UniProtKB/TrEMBL
  Q9HBG1_HUMAN UniProtKB/TrEMBL
  Q9HBG2_HUMAN UniProtKB/TrEMBL
  Q9HBG3_HUMAN UniProtKB/TrEMBL
  Q9HBH2_HUMAN UniProtKB/TrEMBL
  Q9HBH3_HUMAN UniProtKB/TrEMBL
  Q9HBH4_HUMAN UniProtKB/TrEMBL
  Q9HBI3_HUMAN UniProtKB/TrEMBL
  Q9HBI4_HUMAN UniProtKB/TrEMBL
UniProt Secondary B1AQK5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 CACNA1B  calcium voltage-gated channel subunit alpha1 B    calcium channel, voltage-dependent, N type, alpha 1B subunit  Symbol and/or name change 5135510 APPROVED