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 Orthologs
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-Chemical Interaction Annotations     Click to see Annotation Detail View
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)
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)
Gait disturbance  (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:28130356   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   PMID:37071682   PMID:38157867  


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
1386 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]|not specified [RCV004598037] 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 not specified [RCV004326579] 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 disorder [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]|not specified [RCV004598122] 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]|not specified [RCV004598036] 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 disorder [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 disorder [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 disorder [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]|not specified [RCV004598035] 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 disorder [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]|not specified [RCV004598100] 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 disorder [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]|not specified [RCV004526786] Chr9:138058257 [GRCh38]
Chr9:140952709 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
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 disorder [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]|not specified [RCV004598039] 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]|not specified [RCV004598067] 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]|not specified [RCV004598096] 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 Seizure [RCV001256102]|not provided [RCV001458718]|not specified [RCV004035362] 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]|not specified [RCV004035345] 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.530+35A>C single nucleotide variant not specified [RCV004598464] Chr9:137882918 [GRCh38]
Chr9:140777370 [GRCh37]
Chr9:9q34.3
benign
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]|not provided [RCV002546688]|not specified [RCV004035781] Chr9:138023379 [GRCh38]
Chr9:140917831 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_000718.4(CACNA1B):c.6314G>A (p.Arg2105Gln) single nucleotide variant not provided [RCV001356381]|not specified [RCV004034460] 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]|not specified [RCV004598052] 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]|not specified [RCV004598069] 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]|not specified [RCV004598146] 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 disorder [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 disorder [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 not provided [RCV001968095]|not specified [RCV004043172] 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]|not specified [RCV004603072] 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 not provided [RCV001919260]|not specified [RCV004044133] 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 not provided [RCV002016331]|not specified [RCV004046254] 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 not provided [RCV001925042]|not specified [RCV004041720] 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 disorder [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 disorder [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 disorder [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]|not specified [RCV004603181] 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 disorder [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 disorder [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 disorder [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 not provided [RCV002183009]|not specified [RCV004045066] 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]|not specified [RCV004598196] 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 not provided [RCV003115896]|not specified [RCV004245923] 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]|not specified [RCV004245931] 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.4666G>A (p.Ala1556Thr) single nucleotide variant not provided [RCV004593523] Chr9:138059735 [GRCh38]
Chr9:140954187 [GRCh37]
Chr9:9q34.3
uncertain significance
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 not specified [RCV004182646] 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 not provided [RCV002775700]|not specified [RCV004064704] 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 not provided [RCV003088464]|not specified [RCV004073258] Chr9:138043833 [GRCh38]
Chr9:140938285 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_000718.4(CACNA1B):c.2818C>T (p.His940Tyr) single nucleotide variant not specified [RCV004145826] 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 not provided [RCV002988867]|not specified [RCV004065208] 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 not specified [RCV004159191] Chr9:138112500 [GRCh38]
Chr9:141006952 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_000718.4(CACNA1B):c.2035G>A (p.Val679Ile) single nucleotide variant not provided [RCV003111759]|not specified [RCV004222629] 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 disorder [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]|not specified [RCV004067250] 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 not provided [RCV002756071]|not specified [RCV004067925] 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 Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV003992680]|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 Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV003992694]|not provided [RCV002972484]|not specified [RCV004065130] 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 not specified [RCV004125885] 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 not specified [RCV004144111] 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 not provided [RCV002614696]|not specified [RCV004065906] Chr9:138120274 [GRCh38]
Chr9:141014726 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_000718.4(CACNA1B):c.148G>T (p.Ala50Ser) single nucleotide variant not specified [RCV004233381] 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 not specified [RCV004129922] 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 not specified [RCV004223748] Chr9:138121944 [GRCh38]
Chr9:141016396 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_000718.4(CACNA1B):c.2696C>T (p.Pro899Leu) single nucleotide variant not specified [RCV004127780] 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 not provided [RCV002971629]|not specified [RCV004068262] 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 disorder [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 disorder [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 disorder [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]|not specified [RCV004526963] 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]|not specified [RCV004068378] 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 not specified [RCV004233459] Chr9:137882841 [GRCh38]
Chr9:140777293 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_000718.4(CACNA1B):c.2924C>A (p.Pro975Gln) single nucleotide variant not provided [RCV002690595]|not specified [RCV004067617] Chr9:138023667 [GRCh38]
Chr9:140918119 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_000718.4(CACNA1B):c.2248G>A (p.Ala750Thr) single nucleotide variant not specified [RCV004233461] 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 disorder [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]|not specified [RCV004064887] Chr9:137971395 [GRCh38]
Chr9:140865847 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_000718.4(CACNA1B):c.3364C>T (p.Arg1122Trp) single nucleotide variant Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV003989779]|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 not provided [RCV002620640]|not specified [RCV004070600] 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 not specified [RCV004099793] 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 not specified [RCV004233426] Chr9:138025112 [GRCh38]
Chr9:140919564 [GRCh37]
Chr9:9q34.3
likely benign
NM_000718.4(CACNA1B):c.1384T>C (p.Ser462Pro) single nucleotide variant not specified [RCV004233437] 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 not specified [RCV004109975] 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 not provided [RCV003078532]|not specified [RCV004071952] 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 not provided [RCV003084724]|not specified [RCV004073155] 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 not specified [RCV004106999] 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 disorder [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 not specified [RCV004165257] 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 not specified [RCV004177256] 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 not provided [RCV002623316]|not specified [RCV004069099] 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 not provided [RCV002572276]|not specified [RCV004064337] 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 not specified [RCV004134294] 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 not provided [RCV003082761]|not specified [RCV004073238] 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 not provided [RCV003041355]|not specified [RCV004070156] 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 Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV003146580]|not provided [RCV002576057]|not specified [RCV004064327] 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 not provided [RCV002572275]|not specified [RCV004064336] 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 not provided [RCV002958362]|not specified [RCV004068055] 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 not specified [RCV004245304] 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 disorder [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]|not specified [RCV004068166] Chr9:138102728 [GRCh38]
Chr9:140997180 [GRCh37]
Chr9:9q34.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
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 not provided [RCV003005128]|not specified [RCV004068481] 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 disorder [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 not specified [RCV004136407] 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 not specified [RCV004076305] 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 disorder [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 not provided [RCV003089314]|not specified [RCV004071781] 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 not specified [RCV004171962] 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]|not specified [RCV004614394] 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 not specified [RCV004157387] 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 disorder [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 not provided [RCV003086114]|not specified [RCV004071922] 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 disorder [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 not provided [RCV002579186]|not specified [RCV004073433] 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 not specified [RCV004097923] 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 disorder [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]|not specified [RCV004603297] 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]|not specified [RCV004068200] 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 not provided [RCV002671881]|not specified [RCV004066903] 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 disorder [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]|not specified [RCV004066585] 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 Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV003992690]|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 not provided [RCV002606880]|not specified [RCV004069104] 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 disorder [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 not provided [RCV002585177]|not specified [RCV004068790] 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 disorder [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 disorder [RCV003420610]|not provided [RCV004593240]|not specified [RCV004282666] Chr9:138105732 [GRCh38]
Chr9:141000184 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_000718.4(CACNA1B):c.5479G>A (p.Val1827Ile) single nucleotide variant not specified [RCV004249496] 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]|not provided [RCV004696317] 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 not specified [RCV004272749] Chr9:138118731 [GRCh38]
Chr9:141013183 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_000718.4(CACNA1B):c.6925C>T (p.Arg2309Cys) single nucleotide variant not specified [RCV004259351] 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 not specified [RCV004351717] Chr9:138058059 [GRCh38]
Chr9:140952511 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_000718.4(CACNA1B):c.3040G>A (p.Glu1014Lys) single nucleotide variant not specified [RCV004352464] Chr9:138023783 [GRCh38]
Chr9:140918235 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_000718.4(CACNA1B):c.3205A>T (p.Ser1069Cys) single nucleotide variant not specified [RCV004366174] Chr9:138025091 [GRCh38]
Chr9:140919543 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_000718.4(CACNA1B):c.1318G>A (p.Asp440Asn) single nucleotide variant not specified [RCV004355519] Chr9:137957672 [GRCh38]
Chr9:140852124 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_000718.4(CACNA1B):c.1271G>A (p.Ser424Asn) single nucleotide variant not specified [RCV004336318] Chr9:137957625 [GRCh38]
Chr9:140852077 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_000718.4(CACNA1B):c.2533G>A (p.Val845Ile) single nucleotide variant not specified [RCV004348167] 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 not specified [RCV004335179] 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 disorder [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 disorder [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.6011G>A (p.Arg2004His) single nucleotide variant not provided [RCV004585843] Chr9:138118749 [GRCh38]
Chr9:141013201 [GRCh37]
Chr9:9q34.3
uncertain significance
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 disorder [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 disorder [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