CACNA1D (calcium voltage-gated channel subunit alpha1 D) - Rat Genome Database

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Gene: CACNA1D (calcium voltage-gated channel subunit alpha1 D) Homo sapiens
Analyze
Symbol: CACNA1D
Name: calcium voltage-gated channel subunit alpha1 D
RGD ID: 735457
HGNC Page HGNC:1391
Description: Enables alpha-actinin binding activity and voltage-gated calcium channel activity involved SA node cell action potential. Contributes to high voltage-gated calcium channel activity. Involved in several processes, including calcium ion import; cardiac muscle cell action potential; and regulation of heart rate by cardiac conduction. Part of L-type voltage-gated calcium channel complex. Implicated in type 2 diabetes mellitus. Biomarker of type 2 diabetes mellitus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CACH3; CACN4; CACNL1A2; calcium channel, L type, alpha-1 polypeptide; calcium channel, L type, alpha-1 polypeptide, isoform 2; calcium channel, neuroendocrine/brain-type, alpha 1 subunit; calcium channel, voltage-dependent, L type, alpha 1D subunit; Cav1.3; CCHL1A2; PASNA; SANDD; voltage-dependent L-type calcium channel subunit alpha-1D; voltage-gated calcium channel alpha 1 subunit; voltage-gated calcium channel alpha subunit Cav1.3; voltage-gated calcium channel subunit alpha Cav1.3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s).
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38353,494,611 - 53,813,733 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl353,328,963 - 53,813,733 (+)EnsemblGRCh38hg38GRCh38
GRCh37353,528,638 - 53,847,760 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36353,504,116 - 53,821,001 (+)NCBINCBI36Build 36hg18NCBI36
Build 34353,504,115 - 53,821,001NCBI
Celera353,496,179 - 53,813,773 (+)NCBICelera
Cytogenetic Map3p21.1NCBI
HuRef353,577,566 - 53,895,012 (+)NCBIHuRef
CHM1_1353,480,800 - 53,798,135 (+)NCBICHM1_1
T2T-CHM13v2.0353,527,880 - 53,846,976 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
(S)-nicotine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2-palmitoylglycerol  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
amphetamine  (ISO)
androgen antagonist  (ISO)
Aroclor 1254  (ISO)
arsenite(3-)  (EXP)
barium(0)  (ISO)
benzo[a]pyrene  (EXP)
benzo[e]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
buta-1,3-diene  (ISO)
butanal  (EXP)
Butylparaben  (ISO)
C60 fullerene  (ISO)
cadmium dichloride  (ISO)
calcium atom  (ISO)
calcium(0)  (ISO)
chloroprene  (ISO)
chlorpyrifos  (ISO)
cisplatin  (EXP)
cobalt dichloride  (ISO)
cocaine  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
DDE  (ISO)
deoxynivalenol  (EXP)
dibutyl phthalate  (ISO)
enzacamene  (ISO)
epoxiconazole  (ISO)
folic acid  (ISO)
formaldehyde  (ISO)
fulvestrant  (EXP)
gabapentin  (ISO)
glyphosate  (EXP)
inulin  (ISO)
linuron  (ISO)
MeIQx  (EXP)
metformin  (ISO)
methapyrilene  (EXP)
methoxychlor  (ISO)
N-Nitrosopyrrolidine  (EXP)
nickel atom  (EXP)
nicotine  (ISO)
nitrofen  (ISO)
O-methyleugenol  (EXP)
p-menthan-3-ol  (EXP)
paracetamol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
prochloraz  (ISO)
procymidone  (ISO)
progesterone  (ISO)
quercetin  (ISO)
scopolamine  (ISO)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
sodium dichromate  (ISO)
sodium disulfite  (ISO)
sotorasib  (EXP)
tebuconazole  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
trametinib  (EXP)
trichloroethene  (ISO)
triclosan  (EXP)
trimellitic anhydride  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
trovafloxacin  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Voltage-gated calcium channels. Catterall WA Cold Spring Harb Perspect Biol. 2011 Aug 1;3(8):a003947. doi: 10.1101/cshperspect.a003947.
2. Downregulation of Cav1.3 calcium channel expression in the cochlea is associated with age-related hearing loss in C57BL/6J mice. Chen J, etal., Neuroreport. 2013 Apr 17;24(6):313-7. doi: 10.1097/WNR.0b013e32835fa79c.
3. Distribution and regulation of L-type calcium channels in deep dorsal horn neurons after sciatic nerve injury in rats. Dobremez E, etal., Eur J Neurosci. 2005 Jun;21(12):3321-33.
4. Ca2+ protein alpha 1D of CaV1.3 regulates intracellular calcium concentration and migration of colon cancer cells through a non-canonical activity. Fourbon Y, etal., Sci Rep. 2017 Oct 27;7(1):14199. doi: 10.1038/s41598-017-14230-1.
5. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
6. Alcohol Withdrawal-Induced Seizure Susceptibility is Associated with an Upregulation of CaV1.3 Channels in the Rat Inferior Colliculus. N'Gouemo P, etal., Int J Neuropsychopharmacol. 2015 Jan 2;18(7):pyu123. doi: 10.1093/ijnp/pyu123.
7. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
8. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
9. Congenital deafness and sinoatrial node dysfunction in mice lacking class D L-type Ca2+ channels. Platzer J, etal., Cell 2000 Jul 7;102(1):89-97.
10. The human L-type calcium channel Cav1.3 regulates insulin release and polymorphisms in CACNA1D associate with type 2 diabetes. Reinbothe TM, etal., Diabetologia. 2013 Feb;56(2):340-9. doi: 10.1007/s00125-012-2758-z. Epub 2012 Nov 15.
11. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
12. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
13. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
14. Antagonizing L-type Ca2+ channel reduces development of abnormal involuntary movement in the rat model of L-3,4-dihydroxyphenylalanine-induced dyskinesia. Schuster S, etal., Biol Psychiatry. 2009 Mar 15;65(6):518-26. Epub 2008 Oct 23.
15. Age-related working memory impairment is correlated with increases in the L-type calcium channel protein alpha1D (Cav1.3) in area CA1 of the hippocampus and both are ameliorated by chronic nimodipine treatment. Veng LM, etal., Brain Res Mol Brain Res 2003 Feb 20;110(2):193-202.
16. The levels of Pdx1/insulin, Cacna1c and Cacna1d, and β-cell mass in a rat model of intrauterine undernutrition. Xu YP, etal., J Matern Fetal Neonatal Med. 2011 Mar;24(3):437-43. doi: 10.3109/14767058.2010.497571. Epub 2010 Sep 27.
17. The role of voltage-gated calcium channels in pancreatic beta-cell physiology and pathophysiology. Yang SN and Berggren PO, Endocr Rev. 2006 Oct;27(6):621-76. Epub 2006 Jul 25.
Additional References at PubMed
PMID:1309651   PMID:1309948   PMID:1324226   PMID:1664412   PMID:1849233   PMID:7557998   PMID:8738134   PMID:10468580   PMID:11160515   PMID:11285265   PMID:11292657   PMID:11424233  
PMID:11441182   PMID:11581302   PMID:14981074   PMID:15939813   PMID:16921373   PMID:16973824   PMID:17081983   PMID:17110593   PMID:17257825   PMID:18482979   PMID:19004828   PMID:19225208  
PMID:19240061   PMID:19339512   PMID:19351867   PMID:19885716   PMID:20363327   PMID:20379614   PMID:20424473   PMID:21131953   PMID:21352396   PMID:21737448   PMID:21859974   PMID:21873635  
PMID:21901158   PMID:21998309   PMID:21998310   PMID:23396134   PMID:23591884   PMID:23791743   PMID:23913001   PMID:23913004   PMID:23924992   PMID:23973784   PMID:24054868   PMID:24120865  
PMID:24144296   PMID:24703308   PMID:24849370   PMID:24866132   PMID:24941892   PMID:24996399   PMID:25055868   PMID:25249183   PMID:25538241   PMID:25620733   PMID:25805831   PMID:25966692  
PMID:25966695   PMID:26049024   PMID:26255836   PMID:26285814   PMID:26351028   PMID:26586120   PMID:26606680   PMID:27255217   PMID:27390944   PMID:27572936   PMID:27915047   PMID:27932504  
PMID:28318089   PMID:28330839   PMID:28472301   PMID:28584012   PMID:28584016   PMID:28696301   PMID:28978442   PMID:29507755   PMID:30054272   PMID:30058071   PMID:30354720   PMID:30465465  
PMID:30498240   PMID:30773296   PMID:31145748   PMID:31302118   PMID:31461656   PMID:31663850   PMID:31921405   PMID:31983427   PMID:32113898   PMID:32154672   PMID:35224516   PMID:35779252  
PMID:36187959   PMID:36350063   PMID:36430690   PMID:36592224   PMID:36949059   PMID:37698939   PMID:37846579  


Genomics

Comparative Map Data
CACNA1D
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38353,494,611 - 53,813,733 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl353,328,963 - 53,813,733 (+)EnsemblGRCh38hg38GRCh38
GRCh37353,528,638 - 53,847,760 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36353,504,116 - 53,821,001 (+)NCBINCBI36Build 36hg18NCBI36
Build 34353,504,115 - 53,821,001NCBI
Celera353,496,179 - 53,813,773 (+)NCBICelera
Cytogenetic Map3p21.1NCBI
HuRef353,577,566 - 53,895,012 (+)NCBIHuRef
CHM1_1353,480,800 - 53,798,135 (+)NCBICHM1_1
T2T-CHM13v2.0353,527,880 - 53,846,976 (+)NCBIT2T-CHM13v2.0
Cacna1d
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391429,761,898 - 30,213,113 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1429,761,896 - 30,213,412 (-)EnsemblGRCm39 Ensembl
GRCm381430,039,941 - 30,491,156 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1430,039,939 - 30,491,455 (-)EnsemblGRCm38mm10GRCm38
MGSCv371430,853,125 - 31,304,342 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361428,871,082 - 29,320,165 (-)NCBIMGSCv36mm8
Celera1426,295,784 - 26,747,696 (-)NCBICelera
Cytogenetic Map14A3- BNCBI
cM Map1418.43NCBI
Cacna1d
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8165,233,682 - 5,527,549 (-)NCBIGRCr8
mRatBN7.2165,227,157 - 5,521,163 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl165,228,306 - 5,668,215 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx165,239,219 - 5,533,279 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0166,384,647 - 6,678,728 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0165,236,683 - 5,531,953 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0166,110,294 - 6,405,022 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl166,112,150 - 6,405,117 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0166,044,524 - 6,339,170 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4165,383,259 - 5,703,361 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1165,383,256 - 5,703,359NCBI
Celera169,667,490 - 9,955,564 (+)NCBICelera
RH 3.4 Map161.3RGD
Cytogenetic Map16p16NCBI
Cacna1d
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554303,268,953 - 3,794,592 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554303,450,151 - 3,796,983 (+)NCBIChiLan1.0ChiLan1.0
CACNA1D
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2253,485,629 - 53,805,194 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1353,490,400 - 53,809,152 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0353,432,189 - 53,751,347 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1354,654,121 - 54,972,755 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl354,495,952 - 54,970,444 (+)Ensemblpanpan1.1panPan2
CACNA1D
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12036,189,986 - 36,488,460 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2036,191,810 - 36,613,686 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2036,127,167 - 36,425,020 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02036,464,261 - 36,765,714 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2036,464,264 - 36,891,695 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12035,905,766 - 36,203,511 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02036,264,311 - 36,565,496 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02036,481,867 - 36,779,827 (-)NCBIUU_Cfam_GSD_1.0
Cacna1d
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118171,026,002 - 171,341,293 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364734,037,533 - 4,478,073 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364734,164,633 - 4,479,866 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CACNA1D
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1335,436,519 - 35,909,662 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11335,568,534 - 35,911,483 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21338,638,092 - 38,980,243 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CACNA1D
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12214,868,459 - 15,195,002 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2215,027,565 - 15,197,101 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666041151,696,363 - 152,023,286 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cacna1d
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248223,392,044 - 3,919,415 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248223,391,045 - 3,734,258 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CACNA1D
1840 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000720.4(CACNA1D):c.1480T>C (p.Cys494Arg) single nucleotide variant Sinoatrial node dysfunction and deafness [RCV002485851]|not provided [RCV000727885] Chr3:53718683 [GRCh38]
Chr3:53752710 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1407C>T (p.Ser469=) single nucleotide variant not provided [RCV000889551]|not specified [RCV000727881] Chr3:53718317 [GRCh38]
Chr3:53752344 [GRCh37]
Chr3:3p21.1		 benign|likely benign
NM_001128840.3(CACNA1D):c.4686C>T (p.Thr1562=) single nucleotide variant not provided [RCV000843647]|not specified [RCV000602834] Chr3:53780124 [GRCh38]
Chr3:53814151 [GRCh37]
Chr3:3p21.1		 benign|likely benign
NM_001128840.3(CACNA1D):c.5161G>A (p.Ala1721Thr) single nucleotide variant not provided [RCV000522167] Chr3:53801178 [GRCh38]
Chr3:53835205 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_000720.4(CACNA1D):c.1208G>A (p.Gly403Asp) single nucleotide variant Aldosterone-producing adenoma with seizures and neurological abnormalities [RCV000056307]|not provided [RCV000122469] Chr3:53673804 [GRCh38]
Chr3:53707831 [GRCh37]
Chr3:3p21.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001128840.3(CACNA1D):c.2250C>G (p.Ile750Met) single nucleotide variant Aldosterone-producing adenoma with seizures and neurological abnormalities [RCV000056308]|not provided [RCV000122488] Chr3:53730470 [GRCh38]
Chr3:53764497 [GRCh37]
Chr3:3p21.1		 pathogenic|likely pathogenic
NM_000720.4(CACNA1D):c.1208_1209insGGG (p.Gly403dup) insertion Sinoatrial node dysfunction and deafness [RCV000032914]|not provided [RCV002514138] Chr3:53673802..53673803 [GRCh38]
Chr3:53707829..53707830 [GRCh37]
Chr3:3p21.1		 pathogenic|likely pathogenic
GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1 copy number loss See cases [RCV000051511] Chr3:49461000..55314500 [GRCh38]
Chr3:49498433..55348528 [GRCh37]
Chr3:49473437..55323568 [NCBI36]
Chr3:3p21.31-14.3		 pathogenic
GRCh38/hg38 3p21.1-14.3(chr3:53287477-57025368)x1 copy number loss See cases [RCV000053929] Chr3:53287477..57025368 [GRCh38]
Chr3:53321495..57059396 [GRCh37]
Chr3:53296535..57034436 [NCBI36]
Chr3:3p21.1-14.3		 uncertain significance
NM_000720.3(CACNA1D):c.2241C>T (p.Ile747=) single nucleotide variant Malignant melanoma [RCV000066151] Chr3:53726959 [GRCh38]
Chr3:53760986 [GRCh37]
Chr3:53736026 [NCBI36]
Chr3:3p21.1		 not provided
NM_000720.3(CACNA1D):c.340C>T (p.Pro114Ser) single nucleotide variant Malignant melanoma [RCV000060849] Chr3:53497424 [GRCh38]
Chr3:53531451 [GRCh37]
Chr3:53506491 [NCBI36]
Chr3:3p21.1		 not provided
NM_001128840.3(CACNA1D):c.1207G>C (p.Gly403Arg) single nucleotide variant not provided [RCV000122487] Chr3:53673113 [GRCh38]
Chr3:53707140 [GRCh37]
Chr3:3p21.1		 likely pathogenic
NM_001128840.3(CACNA1D):c.5695T>C (p.Cys1899Arg) single nucleotide variant Intellectual disability [RCV001251927] Chr3:53805092 [GRCh38]
Chr3:53839119 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3198T>C (p.Asp1066=) single nucleotide variant not provided [RCV002069272]|not specified [RCV001195442] Chr3:53747332 [GRCh38]
Chr3:53781359 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.708C>T (p.Val236=) single nucleotide variant not provided [RCV003104469] Chr3:53660217 [GRCh38]
Chr3:53694244 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.220C>G (p.Pro74Ala) single nucleotide variant not provided [RCV003221551] Chr3:53497304 [GRCh38]
Chr3:53531331 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3483del (p.Glu1162fs) deletion Malignant tumor of prostate [RCV000149005] Chr3:53749432 [GRCh38]
Chr3:53783459 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1116+14G>A single nucleotide variant not provided [RCV002188353] Chr3:53666549 [GRCh38]
Chr3:53700576 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3007-71G>C single nucleotide variant Aldosterone-producing adenoma with seizures and neurological abnormalities [RCV001554781]|Sinoatrial node dysfunction and deafness [RCV001554782]|not provided [RCV001694121] Chr3:53745553 [GRCh38]
Chr3:53779580 [GRCh37]
Chr3:3p21.1		 benign
GRCh38/hg38 3p21.2-14.3(chr3:51394434-55064449)x1 copy number loss See cases [RCV000143631] Chr3:51394434..55064449 [GRCh38]
Chr3:51431865..55098476 [GRCh37]
Chr3:51406905..55073516 [NCBI36]
Chr3:3p21.2-14.3		 likely pathogenic
NM_001128840.3(CACNA1D):c.954G>A (p.Ala318=) single nucleotide variant Aldosterone-producing adenoma with seizures and neurological abnormalities [RCV003316179]|CACNA1D-related condition [RCV003917865]|Sinoatrial node dysfunction and deafness [RCV002478765]|not provided [RCV000969846]|not specified [RCV000221786] Chr3:53666373 [GRCh38]
Chr3:53700400 [GRCh37]
Chr3:3p21.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001128840.3(CACNA1D):c.3870+13C>G single nucleotide variant Aldosterone-producing adenoma with seizures and neurological abnormalities [RCV003316173]|not provided [RCV001566531]|not specified [RCV000223578] Chr3:53762094 [GRCh38]
Chr3:53796121 [GRCh37]
Chr3:3p21.1		 benign|likely benign
NM_001128840.3(CACNA1D):c.264C>T (p.Tyr88=) single nucleotide variant Aldosterone-producing adenoma with seizures and neurological abnormalities [RCV003316172]|Sinoatrial node dysfunction and deafness [RCV002500686]|not provided [RCV000964921]|not specified [RCV000219701] Chr3:53497348 [GRCh38]
Chr3:53531375 [GRCh37]
Chr3:3p21.1		 benign|likely benign
NM_001128840.3(CACNA1D):c.6437G>A (p.Arg2146Lys) single nucleotide variant CACNA1D-related condition [RCV003937800]|Inborn genetic diseases [RCV003278701]|not provided [RCV000901570]|not specified [RCV000213122] Chr3:53811357 [GRCh38]
Chr3:53845384 [GRCh37]
Chr3:3p21.1		 benign|likely benign
NM_001128840.3(CACNA1D):c.6162G>A (p.Lys2054=) single nucleotide variant not specified [RCV000222171] Chr3:53810268 [GRCh38]
Chr3:53844295 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3954C>T (p.Phe1318=) single nucleotide variant Aldosterone-producing adenoma with seizures and neurological abnormalities [RCV003316175]|not provided [RCV000991756]|not specified [RCV000219824] Chr3:53770462 [GRCh38]
Chr3:53804489 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.3279G>A (p.Ala1093=) single nucleotide variant not provided [RCV000842946]|not specified [RCV000219893] Chr3:53747413 [GRCh38]
Chr3:53781440 [GRCh37]
Chr3:3p21.1		 benign|likely benign
NM_001128840.3(CACNA1D):c.5814G>T (p.Pro1938=) single nucleotide variant not provided [RCV002057100]|not specified [RCV000213518] Chr3:53808713 [GRCh38]
Chr3:53842740 [GRCh37]
Chr3:3p21.1		 likely benign|conflicting interpretations of pathogenicity
NM_001128840.3(CACNA1D):c.450T>C (p.Pro150=) single nucleotide variant not specified [RCV000220080] Chr3:53501687 [GRCh38]
Chr3:53535714 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.6348C>T (p.Asn2116=) single nucleotide variant Aldosterone-producing adenoma with seizures and neurological abnormalities [RCV001554789]|Sinoatrial node dysfunction and deafness [RCV001554790]|not provided [RCV002057066]|not specified [RCV000220198] Chr3:53811268 [GRCh38]
Chr3:53845295 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.5940G>C (p.Ser1980=) single nucleotide variant Aldosterone-producing adenoma with seizures and neurological abnormalities [RCV003316191]|not provided [RCV000979997]|not specified [RCV000217846] Chr3:53810046 [GRCh38]
Chr3:53844073 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.6051G>A (p.Pro2017=) single nucleotide variant Aldosterone-producing adenoma with seizures and neurological abnormalities [RCV003316177]|not provided [RCV000991758]|not specified [RCV000217882] Chr3:53810157 [GRCh38]
Chr3:53844184 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.5496C>T (p.Gly1832=) single nucleotide variant CACNA1D-related condition [RCV003929884]|not provided [RCV000901105]|not specified [RCV000213786] Chr3:53803483 [GRCh38]
Chr3:53837510 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.927A>G (p.Val309=) single nucleotide variant Aldosterone-producing adenoma with seizures and neurological abnormalities [RCV003316178]|not provided [RCV000711051]|not specified [RCV000218070] Chr3:53666346 [GRCh38]
Chr3:53700373 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.3361A>G (p.Ile1121Val) single nucleotide variant Aldosterone-producing adenoma with seizures and neurological abnormalities [RCV003316189]|CACNA1D-related condition [RCV003907803]|Inborn genetic diseases [RCV002519601]|not provided [RCV000911779]|not specified [RCV000215750] Chr3:53749314 [GRCh38]
Chr3:53783341 [GRCh37]
Chr3:3p21.1		 benign|likely benign
NM_001128840.3(CACNA1D):c.5643C>T (p.Pro1881=) single nucleotide variant not provided [RCV001853406]|not specified [RCV000218127] Chr3:53805040 [GRCh38]
Chr3:53839067 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.6044G>C (p.Ser2015Thr) single nucleotide variant Inborn genetic diseases [RCV002517532]|not specified [RCV000220515] Chr3:53810150 [GRCh38]
Chr3:53844177 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5255C>T (p.Thr1752Ile) single nucleotide variant Aldosterone-producing adenoma with seizures and neurological abnormalities [RCV003316176]|CACNA1D-related condition [RCV003917864]|not provided [RCV001596988]|not specified [RCV000214169] Chr3:53801272 [GRCh38]
Chr3:53835299 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.3821C>T (p.Ser1274Phe) single nucleotide variant CACNA1D-related condition [RCV003907823]|not provided [RCV001582734]|not specified [RCV000215941] Chr3:53762032 [GRCh38]
Chr3:53796059 [GRCh37]
Chr3:3p21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001128840.3(CACNA1D):c.3168-6C>G single nucleotide variant Inborn genetic diseases [RCV003278702]|not provided [RCV000901569]|not specified [RCV000220678] Chr3:53747296 [GRCh38]
Chr3:53781323 [GRCh37]
Chr3:3p21.1		 benign|likely benign
NM_001128840.3(CACNA1D):c.1956G>T (p.Ser652=) single nucleotide variant not provided [RCV000900534]|not specified [RCV000220955] Chr3:53723855 [GRCh38]
Chr3:53757882 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2277A>G (p.Glu759=) single nucleotide variant not provided [RCV003765362]|not specified [RCV000222613] Chr3:53730497 [GRCh38]
Chr3:53764524 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.6050C>T (p.Pro2017Leu) single nucleotide variant not provided [RCV001797068]|not specified [RCV000222630] Chr3:53810156 [GRCh38]
Chr3:53844183 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4977G>A (p.Ser1659=) single nucleotide variant CACNA1D-related condition [RCV003937818]|not provided [RCV002054941]|not specified [RCV000214388] Chr3:53800302 [GRCh38]
Chr3:53834329 [GRCh37]
Chr3:3p21.1		 benign|likely benign
NM_001128840.3(CACNA1D):c.2853C>T (p.Cys951=) single nucleotide variant not provided [RCV000913184]|not specified [RCV000216269] Chr3:53743052 [GRCh38]
Chr3:53777079 [GRCh37]
Chr3:3p21.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001128840.3(CACNA1D):c.5767_5769del (p.Phe1923del) deletion Aldosterone-producing adenoma with seizures and neurological abnormalities [RCV003316190]|Sinoatrial node dysfunction and deafness [RCV002503843]|not provided [RCV000442689]|not specified [RCV000221136] Chr3:53808665..53808667 [GRCh38]
Chr3:53842692..53842694 [GRCh37]
Chr3:3p21.1		 benign|likely benign
NM_001128840.3(CACNA1D):c.1104T>C (p.Asp368=) single nucleotide variant Aldosterone-producing adenoma with seizures and neurological abnormalities [RCV001554661]|Sinoatrial node dysfunction and deafness [RCV000615002]|not provided [RCV002057064]|not specified [RCV000222719] Chr3:53666523 [GRCh38]
Chr3:53700550 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.2552T>G (p.Leu851Trp) single nucleotide variant Aldosterone-producing adenoma with seizures and neurological abnormalities [RCV003316188]|CACNA1D-related condition [RCV003937817]|Inborn genetic diseases [RCV003165524]|not provided [RCV000827293]|not specified [RCV000216350] Chr3:53732893 [GRCh38]
Chr3:53766920 [GRCh37]
Chr3:3p21.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001128840.3(CACNA1D):c.1351G>C (p.Glu451Gln) single nucleotide variant not provided [RCV001355681]|not specified [RCV000222850] Chr3:53702771 [GRCh38]
Chr3:53736798 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1220+700C>T single nucleotide variant Aldosterone-producing adenoma with seizures and neurological abnormalities [RCV003316171]|not provided [RCV000964249]|not specified [RCV000214674] Chr3:53673826 [GRCh38]
Chr3:53707853 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.6204C>T (p.Ser2068=) single nucleotide variant not provided [RCV000937517]|not specified [RCV000214907] Chr3:53811124 [GRCh38]
Chr3:53845151 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3892C>T (p.Pro1298Ser) single nucleotide variant Aldosterone-producing adenoma with seizures and neurological abnormalities [RCV003316174]|CACNA1D-related condition [RCV003927896]|Sinoatrial node dysfunction and deafness [RCV002500687]|not provided [RCV000952887]|not specified [RCV000216614] Chr3:53769994 [GRCh38]
Chr3:53804021 [GRCh37]
Chr3:3p21.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001128840.3(CACNA1D):c.2700C>T (p.Ser900=) single nucleotide variant Aldosterone-producing adenoma with seizures and neurological abnormalities [RCV001554665]|Sinoatrial node dysfunction and deafness [RCV000609554]|not provided [RCV002057065]|not specified [RCV000223304] Chr3:53735452 [GRCh38]
Chr3:53769479 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.1378G>A (p.Gly460Ser) single nucleotide variant not provided [RCV001854916]|not specified [RCV000238814] Chr3:53702798 [GRCh38]
Chr3:53736825 [GRCh37]
Chr3:3p21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001128840.3(CACNA1D):c.4717C>T (p.Leu1573Phe) single nucleotide variant Inborn genetic diseases [RCV003170227]|not provided [RCV001963797] Chr3:53781592 [GRCh38]
Chr3:53815619 [GRCh37]
Chr3:3p21.1		 uncertain significance
GRCh37/hg19 3p21.2-14.2(chr3:52086599-59689209)x1 copy number loss See cases [RCV000239886] Chr3:52086599..59689209 [GRCh37]
Chr3:3p21.2-14.2		 pathogenic
NM_001128840.3(CACNA1D):c.3115-3C>T single nucleotide variant not provided [RCV000728052]|not specified [RCV000603518] Chr3:53745820 [GRCh38]
Chr3:53779847 [GRCh37]
Chr3:3p21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001128840.3(CACNA1D):c.1477T>A (p.Cys493Ser) single nucleotide variant CACNA1D-related condition [RCV003905568]|not provided [RCV001591359]|not specified [RCV000606635] Chr3:53718387 [GRCh38]
Chr3:53752414 [GRCh37]
Chr3:3p21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 3p21.1(chr3:53831630-53857351)x3 copy number gain See cases [RCV000240355] Chr3:53831630..53857351 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6334C>T (p.Arg2112Cys) single nucleotide variant Inborn genetic diseases [RCV002519340]|not provided [RCV000379028] Chr3:53811254 [GRCh38]
Chr3:53845281 [GRCh37]
Chr3:3p21.1		 likely benign|uncertain significance
NM_001128840.3(CACNA1D):c.719G>A (p.Arg240His) single nucleotide variant not provided [RCV001544783] Chr3:53660228 [GRCh38]
Chr3:53694255 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4009C>T (p.Arg1337Trp) single nucleotide variant not provided [RCV003314849] Chr3:53770517 [GRCh38]
Chr3:53804544 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5664A>C (p.Gln1888His) single nucleotide variant not provided [RCV002281343] Chr3:53805061 [GRCh38]
Chr3:53839088 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2182G>A (p.Val728Ile) single nucleotide variant not provided [RCV001565632] Chr3:53726960 [GRCh38]
Chr3:53760987 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.6326G>C (p.Gly2109Ala) single nucleotide variant Hearing impairment [RCV001375104]|not provided [RCV000488208] Chr3:53811246 [GRCh38]
Chr3:53845273 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3296C>T (p.Thr1099Met) single nucleotide variant not provided [RCV003766153]|not specified [RCV000414662] Chr3:53747430 [GRCh38]
Chr3:53781457 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5708G>A (p.Arg1903Gln) single nucleotide variant not provided [RCV000732824] Chr3:53805105 [GRCh38]
Chr3:53839132 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_000720.4(CACNA1D):c.1127C>T (p.Ala376Val) single nucleotide variant Sinoatrial node dysfunction and deafness [RCV000454162]|not provided [RCV001861652] Chr3:53673723 [GRCh38]
Chr3:53707750 [GRCh37]
Chr3:3p21.1		 pathogenic|likely pathogenic|uncertain significance
NM_001128840.3(CACNA1D):c.5414G>C (p.Arg1805Pro) single nucleotide variant not provided [RCV000480093] Chr3:53802152 [GRCh38]
Chr3:53836179 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6215G>A (p.Gly2072Glu) single nucleotide variant not provided [RCV000480244]|not specified [RCV001195368] Chr3:53811135 [GRCh38]
Chr3:53845162 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2250C>A (p.Ile750=) single nucleotide variant Sinoatrial node dysfunction and deafness [RCV000477872]|not provided [RCV000886164]|not specified [RCV000609479] Chr3:53730470 [GRCh38]
Chr3:53764497 [GRCh37]
Chr3:3p21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001128840.3(CACNA1D):c.4724C>A (p.Ala1575Asp) single nucleotide variant not provided [RCV000486488] Chr3:53781599 [GRCh38]
Chr3:53815626 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2245G>A (p.Ala749Thr) single nucleotide variant not provided [RCV000486721] Chr3:53730465 [GRCh38]
Chr3:53764492 [GRCh37]
Chr3:3p21.1		 likely pathogenic
NM_001128840.3(CACNA1D):c.6347_6348inv (p.Asn2116Ser) inversion not provided [RCV000478986] Chr3:53811267..53811268 [GRCh38]
Chr3:53845294..53845295 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1024G>A (p.Gly342Arg) single nucleotide variant not provided [RCV000498467] Chr3:53666443 [GRCh38]
Chr3:53700470 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6058C>T (p.His2020Tyr) single nucleotide variant not provided [RCV000494332] Chr3:53810164 [GRCh38]
Chr3:53844191 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1389T>G (p.Asn463Lys) single nucleotide variant not provided [RCV001868012]|not specified [RCV000603048] Chr3:53702809 [GRCh38]
Chr3:53736836 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3709A>G (p.Met1237Val) single nucleotide variant not provided [RCV002528766]|not specified [RCV000601314] Chr3:53753605 [GRCh38]
Chr3:53787632 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.222C>T (p.Pro74=) single nucleotide variant CACNA1D-related condition [RCV003953007]|Sinoatrial node dysfunction and deafness [RCV002498884]|not provided [RCV001575379]|not specified [RCV000599893] Chr3:53497306 [GRCh38]
Chr3:53531333 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2407-17T>C single nucleotide variant Aldosterone-producing adenoma with seizures and neurological abnormalities [RCV001554662]|Sinoatrial node dysfunction and deafness [RCV000602498]|not provided [RCV001712712]|not specified [RCV001701115] Chr3:53731999 [GRCh38]
Chr3:53766026 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.4362+1G>C single nucleotide variant Inborn genetic diseases [RCV000624353] Chr3:53776046 [GRCh38]
Chr3:53810073 [GRCh37]
Chr3:3p21.1		 likely pathogenic
NM_000720.4(CACNA1D):c.1504G>A (p.Ala502Thr) single nucleotide variant CACNA1D-related condition [RCV003927953]|not provided [RCV000902733]|not specified [RCV000607517] Chr3:53718707 [GRCh38]
Chr3:53752734 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2805G>C (p.Leu935=) single nucleotide variant not provided [RCV000727345]|not specified [RCV000594879] Chr3:53740333 [GRCh38]
Chr3:53774360 [GRCh37]
Chr3:3p21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001128840.3(CACNA1D):c.1344C>T (p.Ile448=) single nucleotide variant not provided [RCV000906454]|not specified [RCV000607882] Chr3:53702764 [GRCh38]
Chr3:53736791 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2221+14C>T single nucleotide variant not provided [RCV002532742]|not specified [RCV000602486] Chr3:53727013 [GRCh38]
Chr3:53761040 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3862G>A (p.Glu1288Lys) single nucleotide variant not provided [RCV001868018]|not specified [RCV000612359] Chr3:53762073 [GRCh38]
Chr3:53796100 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4926G>A (p.Ala1642=) single nucleotide variant not provided [RCV002065199]|not specified [RCV000615146] Chr3:53800251 [GRCh38]
Chr3:53834278 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2406+5G>A single nucleotide variant CACNA1D-related condition [RCV003962738]|not provided [RCV000939453]|not specified [RCV000615167] Chr3:53731151 [GRCh38]
Chr3:53765178 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3701A>G (p.Asn1234Ser) single nucleotide variant Intellectual disability [RCV001251924]|not provided [RCV001584414]|not specified [RCV000609862] Chr3:53753597 [GRCh38]
Chr3:53787624 [GRCh37]
Chr3:3p21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001128840.3(CACNA1D):c.5814G>A (p.Pro1938=) single nucleotide variant not provided [RCV000893379]|not specified [RCV000615879] Chr3:53808713 [GRCh38]
Chr3:53842740 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.6193-4A>G single nucleotide variant not provided [RCV003727769]|not specified [RCV000615553] Chr3:53811109 [GRCh38]
Chr3:53845136 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1998G>A (p.Leu666=) single nucleotide variant Sinoatrial node dysfunction and deafness [RCV000625436]|not provided [RCV000729981]|not specified [RCV000613860] Chr3:53723897 [GRCh38]
Chr3:53757924 [GRCh37]
Chr3:3p21.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001128840.3(CACNA1D):c.5417A>G (p.Tyr1806Cys) single nucleotide variant not provided [RCV001868013]|not specified [RCV000607483] Chr3:53802155 [GRCh38]
Chr3:53836182 [GRCh37]
Chr3:3p21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001128840.3(CACNA1D):c.2730C>T (p.Arg910=) single nucleotide variant not specified [RCV000613083] Chr3:53735482 [GRCh38]
Chr3:53769509 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5841G>A (p.Thr1947=) single nucleotide variant not provided [RCV001860340]|not specified [RCV000613141] Chr3:53808740 [GRCh38]
Chr3:53842767 [GRCh37]
Chr3:3p21.1		 likely benign|uncertain significance
NM_001128840.3(CACNA1D):c.2467G>A (p.Val823Met) single nucleotide variant CACNA1D-related condition [RCV003945415]|Intellectual disability [RCV001251928]|not provided [RCV000727206]|not specified [RCV000596713] Chr3:53732076 [GRCh38]
Chr3:53766103 [GRCh37]
Chr3:3p21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001128840.3(CACNA1D):c.5408+4del deletion not specified [RCV000613325] Chr3:53801428 [GRCh38]
Chr3:53835455 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2254G>A (p.Val752Ile) single nucleotide variant not specified [RCV000607890] Chr3:53730474 [GRCh38]
Chr3:53764501 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5015G>A (p.Arg1672Gln) single nucleotide variant Inborn genetic diseases [RCV002529291]|not provided [RCV003727764]|not specified [RCV000610826] Chr3:53800340 [GRCh38]
Chr3:53834367 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1749C>T (p.Phe583=) single nucleotide variant not provided [RCV000942971]|not specified [RCV000613635] Chr3:53723516 [GRCh38]
Chr3:53757543 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5409-4A>G single nucleotide variant CACNA1D-related condition [RCV003945527]|Inborn genetic diseases [RCV002531621]|not provided [RCV000916270]|not specified [RCV000611006] Chr3:53802143 [GRCh38]
Chr3:53836170 [GRCh37]
Chr3:3p21.1		 likely benign|uncertain significance
NM_001128840.3(CACNA1D):c.6417C>T (p.Asp2139=) single nucleotide variant not provided [RCV000727931]|not specified [RCV000616986] Chr3:53811337 [GRCh38]
Chr3:53845364 [GRCh37]
Chr3:3p21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001128840.3(CACNA1D):c.6414C>T (p.Ser2138=) single nucleotide variant not provided [RCV000905705]|not specified [RCV000601011] Chr3:53811334 [GRCh38]
Chr3:53845361 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4575G>A (p.Arg1525=) single nucleotide variant not specified [RCV000614212] Chr3:53776944 [GRCh38]
Chr3:53810971 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.6111A>G (p.Thr2037=) single nucleotide variant not provided [RCV000888092]|not specified [RCV000608885] Chr3:53810217 [GRCh38]
Chr3:53844244 [GRCh37]
Chr3:3p21.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001128840.3(CACNA1D):c.2061C>T (p.Thr687=) single nucleotide variant not provided [RCV002063977]|not specified [RCV000611542] Chr3:53723960 [GRCh38]
Chr3:53757987 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5813C>T (p.Pro1938Leu) single nucleotide variant not provided [RCV002289894]|not specified [RCV000611554] Chr3:53808712 [GRCh38]
Chr3:53842739 [GRCh37]
Chr3:3p21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001128840.3(CACNA1D):c.6193-11T>C single nucleotide variant not provided [RCV001672890]|not specified [RCV000614263] Chr3:53811102 [GRCh38]
Chr3:53845129 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.5439C>T (p.Ser1813=) single nucleotide variant CACNA1D-related condition [RCV003962688]|not provided [RCV000597137] Chr3:53803426 [GRCh38]
Chr3:53837453 [GRCh37]
Chr3:3p21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001128840.3(CACNA1D):c.649T>C (p.Leu217=) single nucleotide variant not provided [RCV002528777]|not specified [RCV000609075] Chr3:53660158 [GRCh38]
Chr3:53694185 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1750G>A (p.Val584Ile) single nucleotide variant not provided [RCV001860255]|not specified [RCV000609114] Chr3:53723517 [GRCh38]
Chr3:53757544 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4624G>C (p.Gly1542Arg) single nucleotide variant not specified [RCV000614730] Chr3:53780062 [GRCh38]
Chr3:53814089 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1555G>A (p.Ala519Thr) single nucleotide variant not provided [RCV001860233]|not specified [RCV000614791] Chr3:53722363 [GRCh38]
Chr3:53756390 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2729G>A (p.Arg910His) single nucleotide variant CACNA1D-related condition [RCV003945456]|Inborn genetic diseases [RCV002529290]|not provided [RCV001591360]|not specified [RCV000603795] Chr3:53735481 [GRCh38]
Chr3:53769508 [GRCh37]
Chr3:3p21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_001128840.3(CACNA1D):c.3254A>G (p.Asp1085Gly) single nucleotide variant Inborn genetic diseases [RCV000623398] Chr3:53747388 [GRCh38]
Chr3:53781415 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4696C>G (p.Leu1566Val) single nucleotide variant not provided [RCV000597964] Chr3:53781571 [GRCh38]
Chr3:53815598 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6289G>A (p.Asp2097Asn) single nucleotide variant not specified [RCV000601118] Chr3:53811209 [GRCh38]
Chr3:53845236 [GRCh37]
Chr3:3p21.1		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_001128840.3(CACNA1D):c.5296G>C (p.Ala1766Pro) single nucleotide variant Inborn genetic diseases [RCV002529292]|Sinoatrial node dysfunction and deafness [RCV002498885]|not provided [RCV001289364]|not specified [RCV000601502] Chr3:53801313 [GRCh38]
Chr3:53835340 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4954C>G (p.Pro1652Ala) single nucleotide variant not provided [RCV003690584] Chr3:53800279 [GRCh38]
Chr3:53834306 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2003G>T (p.Gly668Val) single nucleotide variant not provided [RCV000658348] Chr3:53723902 [GRCh38]
Chr3:53757929 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.-178dup duplication not provided [RCV001574121] Chr3:53494986..53494987 [GRCh38]
Chr3:53529013..53529014 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2969G>A (p.Arg990His) single nucleotide variant not provided [RCV001548513] Chr3:53744790 [GRCh38]
Chr3:53778817 [GRCh37]
Chr3:3p21.1		 likely pathogenic
NM_001128840.3(CACNA1D):c.1893-3T>C single nucleotide variant Intellectual disability [RCV001251929]|not provided [RCV002570478] Chr3:53723789 [GRCh38]
Chr3:53757816 [GRCh37]
Chr3:3p21.1		 likely benign|uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_001128840.3(CACNA1D):c.3675+25A>G single nucleotide variant not provided [RCV001732649] Chr3:53751932 [GRCh38]
Chr3:53785959 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1117-264TG[26] microsatellite not provided [RCV001707119] Chr3:53672759..53672766 [GRCh38]
Chr3:53706786..53706793 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.2811+238T>G single nucleotide variant not provided [RCV001586576] Chr3:53740577 [GRCh38]
Chr3:53774604 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1117-264TG[23] microsatellite not provided [RCV001609485] Chr3:53672759..53672772 [GRCh38]
Chr3:53706786..53706799 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.3006+21G>T single nucleotide variant not provided [RCV001666944] Chr3:53744848 [GRCh38]
Chr3:53778875 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.3870+278A>G single nucleotide variant not provided [RCV001667007] Chr3:53762359 [GRCh38]
Chr3:53796386 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.2100+23G>A single nucleotide variant not provided [RCV001667136] Chr3:53724022 [GRCh38]
Chr3:53758049 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.3871-316C>T single nucleotide variant not provided [RCV001611560] Chr3:53769657 [GRCh38]
Chr3:53803684 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.2307G>A (p.Ala769=) single nucleotide variant not provided [RCV001544744] Chr3:53730527 [GRCh38]
Chr3:53764554 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2473G>A (p.Val825Ile) single nucleotide variant Aldosterone-producing adenoma with seizures and neurological abnormalities [RCV001542446] Chr3:53732082 [GRCh38]
Chr3:53766109 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5571G>A (p.Ser1857=) single nucleotide variant not provided [RCV000938762] Chr3:53803558 [GRCh38]
Chr3:53837585 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2222-267T>A single nucleotide variant not provided [RCV001679213] Chr3:53730175 [GRCh38]
Chr3:53764202 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.3786+126G>A single nucleotide variant not provided [RCV001534564] Chr3:53753808 [GRCh38]
Chr3:53787835 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2812-181C>G single nucleotide variant not provided [RCV001679245] Chr3:53742830 [GRCh38]
Chr3:53776857 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.919+245A>G single nucleotide variant not provided [RCV001586159] Chr3:53666057 [GRCh38]
Chr3:53700084 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1667-208A>G single nucleotide variant not provided [RCV001709168] Chr3:53723226 [GRCh38]
Chr3:53757253 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.3516+201G>A single nucleotide variant not provided [RCV001534884] Chr3:53749670 [GRCh38]
Chr3:53783697 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.5585+305G>A single nucleotide variant not provided [RCV001583853] Chr3:53803877 [GRCh38]
Chr3:53837904 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4587+208G>A single nucleotide variant not provided [RCV001574670] Chr3:53777164 [GRCh38]
Chr3:53811191 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.6101G>A (p.Arg2034Gln) single nucleotide variant not provided [RCV001567416] Chr3:53810207 [GRCh38]
Chr3:53844234 [GRCh37]
Chr3:3p21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001128840.3(CACNA1D):c.4691-211G>A single nucleotide variant not provided [RCV001583891] Chr3:53781355 [GRCh38]
Chr3:53815382 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5135A>G (p.His1712Arg) single nucleotide variant Inborn genetic diseases [RCV003267069] Chr3:53801152 [GRCh38]
Chr3:53835179 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5869C>T (p.Gln1957Ter) single nucleotide variant not provided [RCV001568985] Chr3:53808768 [GRCh38]
Chr3:53842795 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4044+268G>A single nucleotide variant not provided [RCV001569112] Chr3:53770820 [GRCh38]
Chr3:53804847 [GRCh37]
Chr3:3p21.1		 likely benign
NM_000720.4(CACNA1D):c.1516C>T (p.Pro506Ser) single nucleotide variant Sinoatrial node dysfunction and deafness [RCV000987277] Chr3:53718719 [GRCh38]
Chr3:53752746 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1220+18C>A single nucleotide variant not provided [RCV001571342] Chr3:53673144 [GRCh38]
Chr3:53707171 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1478+483C>G single nucleotide variant not provided [RCV001569406] Chr3:53718871 [GRCh38]
Chr3:53752898 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2407-22C>T single nucleotide variant not provided [RCV001545125] Chr3:53731994 [GRCh38]
Chr3:53766021 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4363-268C>T single nucleotide variant not provided [RCV001550962] Chr3:53776335 [GRCh38]
Chr3:53810362 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2812-43T>C single nucleotide variant Aldosterone-producing adenoma with seizures and neurological abnormalities [RCV001554666]|Sinoatrial node dysfunction and deafness [RCV001554780]|not provided [RCV001619984] Chr3:53742968 [GRCh38]
Chr3:53776995 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.3786+149G>A single nucleotide variant not provided [RCV001565399] Chr3:53753831 [GRCh38]
Chr3:53787858 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5408+262C>T single nucleotide variant not provided [RCV001581051] Chr3:53801687 [GRCh38]
Chr3:53835714 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4792+111G>A single nucleotide variant not provided [RCV001566103] Chr3:53781778 [GRCh38]
Chr3:53815805 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1478+382G>T single nucleotide variant not provided [RCV001566161] Chr3:53718770 [GRCh38]
Chr3:53752797 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2406+161del deletion not provided [RCV001548264] Chr3:53731302 [GRCh38]
Chr3:53765329 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3315-50G>A single nucleotide variant not provided [RCV001568431] Chr3:53749218 [GRCh38]
Chr3:53783245 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.766+217T>C single nucleotide variant not provided [RCV001679268] Chr3:53660492 [GRCh38]
Chr3:53694519 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.2751+235G>A single nucleotide variant not provided [RCV001648837] Chr3:53735738 [GRCh38]
Chr3:53769765 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.2101-312G>T single nucleotide variant not provided [RCV001586413] Chr3:53726567 [GRCh38]
Chr3:53760594 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3747C>T (p.Thr1249=) single nucleotide variant not provided [RCV000981847] Chr3:53753643 [GRCh38]
Chr3:53787670 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4793-6G>A single nucleotide variant not provided [RCV000929204] Chr3:53786816 [GRCh38]
Chr3:53820843 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.6354T>C (p.Asp2118=) single nucleotide variant not provided [RCV000906978] Chr3:53811274 [GRCh38]
Chr3:53845301 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.6264C>T (p.Ile2088=) single nucleotide variant not provided [RCV000966157] Chr3:53811184 [GRCh38]
Chr3:53845211 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4494A>G (p.Gly1498=) single nucleotide variant not provided [RCV000929310] Chr3:53776863 [GRCh38]
Chr3:53810890 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3007-5C>T single nucleotide variant not provided [RCV000923011] Chr3:53745619 [GRCh38]
Chr3:53779646 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.6222T>C (p.Tyr2074=) single nucleotide variant not provided [RCV000900808] Chr3:53811142 [GRCh38]
Chr3:53845169 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.198C>T (p.Ala66=) single nucleotide variant not provided [RCV000942058] Chr3:53497282 [GRCh38]
Chr3:53531309 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5283C>T (p.Ala1761=) single nucleotide variant not provided [RCV000899034] Chr3:53801300 [GRCh38]
Chr3:53835327 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.672G>A (p.Gly224=) single nucleotide variant not provided [RCV000928806] Chr3:53660181 [GRCh38]
Chr3:53694208 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5310G>A (p.Lys1770=) single nucleotide variant not provided [RCV000923761] Chr3:53801327 [GRCh38]
Chr3:53835354 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3115-8A>G single nucleotide variant not provided [RCV000925147] Chr3:53745815 [GRCh38]
Chr3:53779842 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3681C>T (p.Tyr1227=) single nucleotide variant not provided [RCV000920582] Chr3:53753577 [GRCh38]
Chr3:53787604 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1554C>T (p.Ala518=) single nucleotide variant CACNA1D-related condition [RCV003918609]|not provided [RCV000983050] Chr3:53722362 [GRCh38]
Chr3:53756389 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1687T>C (p.Leu563=) single nucleotide variant not provided [RCV000923567] Chr3:53723454 [GRCh38]
Chr3:53757481 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3676-6C>T single nucleotide variant not provided [RCV000905350] Chr3:53753566 [GRCh38]
Chr3:53787593 [GRCh37]
Chr3:3p21.1		 benign|likely benign
NM_001128840.3(CACNA1D):c.6373C>T (p.Arg2125Trp) single nucleotide variant not provided [RCV001869272]|not specified [RCV000825875] Chr3:53811293 [GRCh38]
Chr3:53845320 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1508G>A (p.Arg503Gln) single nucleotide variant not provided [RCV001869273]|not specified [RCV000825877] Chr3:53722316 [GRCh38]
Chr3:53756343 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2922C>G (p.Ser974=) single nucleotide variant CACNA1D-related condition [RCV003958220]|not provided [RCV000905502] Chr3:53744743 [GRCh38]
Chr3:53778770 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2043G>A (p.Thr681=) single nucleotide variant not provided [RCV000907972] Chr3:53723942 [GRCh38]
Chr3:53757969 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3007-8C>G single nucleotide variant not provided [RCV000879983] Chr3:53745616 [GRCh38]
Chr3:53779643 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.291G>A (p.Ser97=) single nucleotide variant not provided [RCV000940245] Chr3:53497375 [GRCh38]
Chr3:53531402 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1647T>C (p.Asp549=) single nucleotide variant not provided [RCV000901459] Chr3:53722455 [GRCh38]
Chr3:53756482 [GRCh37]
Chr3:3p21.1		 benign|likely benign
NM_001128840.3(CACNA1D):c.6258C>T (p.His2086=) single nucleotide variant not provided [RCV000915999] Chr3:53811178 [GRCh38]
Chr3:53845205 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5886C>T (p.Ala1962=) single nucleotide variant not provided [RCV000980825] Chr3:53809992 [GRCh38]
Chr3:53844019 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1390+10G>A single nucleotide variant not provided [RCV000920419] Chr3:53702820 [GRCh38]
Chr3:53736847 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.6046C>T (p.Leu2016=) single nucleotide variant not provided [RCV000924619] Chr3:53810152 [GRCh38]
Chr3:53844179 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3007-4G>A single nucleotide variant not provided [RCV000924626] Chr3:53745620 [GRCh38]
Chr3:53779647 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.767-9C>T single nucleotide variant not provided [RCV000969178] Chr3:53665651 [GRCh38]
Chr3:53699678 [GRCh37]
Chr3:3p21.1		 likely benign
GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616) copy number gain not provided [RCV000767704] Chr3:45153770..53878616 [GRCh37]
Chr3:3p21.31-21.1		 pathogenic
NM_001128840.3(CACNA1D):c.4002A>G (p.Glu1334=) single nucleotide variant CACNA1D-related condition [RCV003960517]|not provided [RCV000936081] Chr3:53770510 [GRCh38]
Chr3:53804537 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3279G>T (p.Ala1093=) single nucleotide variant not provided [RCV000841811] Chr3:53747413 [GRCh38]
Chr3:53781440 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1557C>T (p.Ala519=) single nucleotide variant CACNA1D-related condition [RCV003908137]|not provided [RCV000842033] Chr3:53722365 [GRCh38]
Chr3:53756392 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1350G>A (p.Pro450=) single nucleotide variant not provided [RCV000836640]|not specified [RCV000825055] Chr3:53702770 [GRCh38]
Chr3:53736797 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.2661C>T (p.Ile887=) single nucleotide variant not provided [RCV003768556]|not specified [RCV000825713] Chr3:53735413 [GRCh38]
Chr3:53769440 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.825C>T (p.Ala275=) single nucleotide variant not provided [RCV000842687]|not specified [RCV001449721] Chr3:53665718 [GRCh38]
Chr3:53699745 [GRCh37]
Chr3:3p21.1		 benign|likely benign
NM_001128840.3(CACNA1D):c.2721C>T (p.Asp907=) single nucleotide variant not provided [RCV002067416]|not specified [RCV000825709] Chr3:53735473 [GRCh38]
Chr3:53769500 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5628C>T (p.Ile1876=) single nucleotide variant not provided [RCV002067417]|not specified [RCV000825711] Chr3:53805025 [GRCh38]
Chr3:53839052 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.6444G>A (p.Glu2148=) single nucleotide variant CACNA1D-related condition [RCV003938179]|not provided [RCV000885147]|not specified [RCV000825712] Chr3:53811364 [GRCh38]
Chr3:53845391 [GRCh37]
Chr3:3p21.1		 benign|likely benign
NM_001128840.3(CACNA1D):c.6174G>C (p.Ala2058=) single nucleotide variant not provided [RCV000976743] Chr3:53810280 [GRCh38]
Chr3:53844307 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1440C>T (p.Ser480=) single nucleotide variant not provided [RCV000891814] Chr3:53718350 [GRCh38]
Chr3:53752377 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3853G>A (p.Ala1285Thr) single nucleotide variant not provided [RCV000991755]|not specified [RCV000825874] Chr3:53762064 [GRCh38]
Chr3:53796091 [GRCh37]
Chr3:3p21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001128840.3(CACNA1D):c.5165G>C (p.Ser1722Thr) single nucleotide variant not provided [RCV001858405]|not specified [RCV000825876] Chr3:53801182 [GRCh38]
Chr3:53835209 [GRCh37]
Chr3:3p21.1		 likely benign|uncertain significance
NM_001128840.3(CACNA1D):c.2261A>G (p.Asn754Ser) single nucleotide variant not provided [RCV003768561]|not specified [RCV000825878] Chr3:53730481 [GRCh38]
Chr3:53764508 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1479-53G>A single nucleotide variant not provided [RCV000844295] Chr3:53719702 [GRCh38]
Chr3:53753729 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.2221+34C>T single nucleotide variant not provided [RCV000844407] Chr3:53727033 [GRCh38]
Chr3:53761060 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5837G>A (p.Arg1946His) single nucleotide variant Aldosterone-producing adenoma with seizures and neurological abnormalities [RCV000785065]|Inborn genetic diseases [RCV002535716]|Sinoatrial node dysfunction and deafness [RCV000785064]|Sinoatrial node dysfunction and deafness [RCV002501023]|not provided [RCV001856205] Chr3:53808736 [GRCh38]
Chr3:53842763 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.132T>C (p.Asn44=) single nucleotide variant not provided [RCV000897495]|not specified [RCV000825708] Chr3:53497216 [GRCh38]
Chr3:53531243 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5585+20G>T single nucleotide variant not provided [RCV000842745] Chr3:53803592 [GRCh38]
Chr3:53837619 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.5585+63C>T single nucleotide variant not provided [RCV000842746] Chr3:53803635 [GRCh38]
Chr3:53837662 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.6393G>A (p.Gln2131=) single nucleotide variant not provided [RCV000982964]|not specified [RCV000825056] Chr3:53811313 [GRCh38]
Chr3:53845340 [GRCh37]
Chr3:3p21.1		 benign|likely benign
NM_001128840.3(CACNA1D):c.5498A>G (p.Tyr1833Cys) single nucleotide variant Aldosterone-producing adenoma with seizures and neurological abnormalities [RCV000785063]|Sinoatrial node dysfunction and deafness [RCV000785062] Chr3:53803485 [GRCh38]
Chr3:53837512 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.623+94T>C single nucleotide variant not provided [RCV000842903] Chr3:53651012 [GRCh38]
Chr3:53685039 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.3045C>T (p.Ile1015=) single nucleotide variant not provided [RCV000894920] Chr3:53745662 [GRCh38]
Chr3:53779689 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1221-3C>T single nucleotide variant not provided [RCV000840994] Chr3:53702638 [GRCh38]
Chr3:53736665 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2172A>G (p.Ser724=) single nucleotide variant not specified [RCV000825710] Chr3:53726950 [GRCh38]
Chr3:53760977 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.623+61G>T single nucleotide variant not provided [RCV000844276] Chr3:53650979 [GRCh38]
Chr3:53685006 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.962G>A (p.Gly321Glu) single nucleotide variant not provided [RCV001665092] Chr3:53666381 [GRCh38]
Chr3:53700408 [GRCh37]
Chr3:3p21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001128840.3(CACNA1D):c.3021C>T (p.Cys1007=) single nucleotide variant not provided [RCV000917149] Chr3:53745638 [GRCh38]
Chr3:53779665 [GRCh37]
Chr3:3p21.1		 likely benign
NM_000720.4(CACNA1D):c.1502C>T (p.Ala501Val) single nucleotide variant CACNA1D-related condition [RCV003411823]|not provided [RCV001858406]|not specified [RCV000825879] Chr3:53718705 [GRCh38]
Chr3:53752732 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.920-89G>A single nucleotide variant not provided [RCV000844358] Chr3:53666250 [GRCh38]
Chr3:53700277 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5750-21T>C single nucleotide variant not provided [RCV000838159] Chr3:53808628 [GRCh38]
Chr3:53842655 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1806G>A (p.Thr602=) single nucleotide variant not provided [RCV000894750] Chr3:53723573 [GRCh38]
Chr3:53757600 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5695T>G (p.Cys1899Gly) single nucleotide variant not provided [RCV000991757] Chr3:53805092 [GRCh38]
Chr3:53839119 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1013T>G (p.Val338Gly) single nucleotide variant Sinoatrial node dysfunction and deafness [RCV000987276] Chr3:53666432 [GRCh38]
Chr3:53700459 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3748G>A (p.Val1250Ile) single nucleotide variant not provided [RCV002560198]|not specified [RCV001195370] Chr3:53753644 [GRCh38]
Chr3:53787671 [GRCh37]
Chr3:3p21.1		 uncertain significance
GRCh37/hg19 3p21.1(chr3:53413246-53955646)x3 copy number gain not provided [RCV000847484] Chr3:53413246..53955646 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.920-240_920-217dup duplication not provided [RCV001571439] Chr3:53666098..53666099 [GRCh38]
Chr3:53700125..53700126 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4668G>A (p.Thr1556=) single nucleotide variant not provided [RCV002560201]|not specified [RCV001195441] Chr3:53780106 [GRCh38]
Chr3:53814133 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1581G>A (p.Trp527Ter) single nucleotide variant not specified [RCV003317781] Chr3:53722389 [GRCh38]
Chr3:53756416 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1722G>A (p.Met574Ile) single nucleotide variant Inborn genetic diseases [RCV002549676]|Sinoatrial node dysfunction and deafness [RCV000987278]|not provided [RCV001858661] Chr3:53723489 [GRCh38]
Chr3:53757516 [GRCh37]
Chr3:3p21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001128840.3(CACNA1D):c.2042C>T (p.Thr681Met) single nucleotide variant not provided [RCV002561033]|not specified [RCV001195369] Chr3:53723941 [GRCh38]
Chr3:53757968 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2777T>C (p.Phe926Ser) single nucleotide variant Autism spectrum disorder [RCV003127329] Chr3:53740305 [GRCh38]
Chr3:53774332 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4970C>T (p.Ala1657Val) single nucleotide variant not provided [RCV003127018] Chr3:53800295 [GRCh38]
Chr3:53834322 [GRCh37]
Chr3:3p21.1		 uncertain significance
NC_000003.11:g.(?_52018081)_(53845433_?)del deletion not provided [RCV003105312] Chr3:52018081..53845433 [GRCh37]
Chr3:3p21.2-21.1		 uncertain significance
NC_000003.11:g.(?_53820829)_(53845433_?)del deletion not provided [RCV003105313] Chr3:53820829..53845433 [GRCh37]
Chr3:3p21.1		 uncertain significance
NC_000003.11:g.(?_53529194)_(53845433_?)dup duplication not provided [RCV003105314] Chr3:53529194..53845433 [GRCh37]
Chr3:3p21.1		 uncertain significance
NC_000003.11:g.(?_53736648)_(53845433_?)dup duplication not provided [RCV003105315] Chr3:53736648..53845433 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3516+46G>C single nucleotide variant not provided [RCV001549901] Chr3:53749515 [GRCh38]
Chr3:53783542 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1390+158G>A single nucleotide variant not provided [RCV001568569] Chr3:53702968 [GRCh38]
Chr3:53736995 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.483+345del deletion not provided [RCV001576138] Chr3:53502053 [GRCh38]
Chr3:53536080 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3675+204C>T single nucleotide variant not provided [RCV001550792] Chr3:53752111 [GRCh38]
Chr3:53786138 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2022C>G (p.Gly674=) single nucleotide variant not provided [RCV001569589]|not specified [RCV001821898] Chr3:53723921 [GRCh38]
Chr3:53757948 [GRCh37]
Chr3:3p21.1		 benign|likely benign
NM_001128840.3(CACNA1D):c.4671T>C (p.Ala1557=) single nucleotide variant not provided [RCV001551186]|not specified [RCV001699814] Chr3:53780109 [GRCh38]
Chr3:53814136 [GRCh37]
Chr3:3p21.1		 benign|likely benign
NM_001128840.3(CACNA1D):c.3739G>T (p.Val1247Leu) single nucleotide variant not provided [RCV001569877] Chr3:53753635 [GRCh38]
Chr3:53787662 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2918+212G>C single nucleotide variant not provided [RCV001566733] Chr3:53743329 [GRCh38]
Chr3:53777356 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5585+241G>A single nucleotide variant not provided [RCV001574699] Chr3:53803813 [GRCh38]
Chr3:53837840 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5871+94G>T single nucleotide variant not provided [RCV001548623] Chr3:53808864 [GRCh38]
Chr3:53842891 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5642C>A (p.Pro1881His) single nucleotide variant not provided [RCV003317994] Chr3:53805039 [GRCh38]
Chr3:53839066 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3787-220G>C single nucleotide variant not provided [RCV001559936] Chr3:53761778 [GRCh38]
Chr3:53795805 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4690+153C>T single nucleotide variant not provided [RCV001617209] Chr3:53780281 [GRCh38]
Chr3:53814308 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.670G>A (p.Gly224Arg) single nucleotide variant not provided [RCV001555006] Chr3:53660179 [GRCh38]
Chr3:53694206 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1116+142A>G single nucleotide variant not provided [RCV001637648] Chr3:53666677 [GRCh38]
Chr3:53700704 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.3870+226T>C single nucleotide variant not provided [RCV001651429] Chr3:53762307 [GRCh38]
Chr3:53796334 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.1220+451del deletion not provided [RCV001617732] Chr3:53673563 [GRCh38]
Chr3:53707590 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.2811+271del deletion not provided [RCV001720894] Chr3:53740599 [GRCh38]
Chr3:53774626 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.2811+238del deletion not provided [RCV001695712] Chr3:53740568 [GRCh38]
Chr3:53774595 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.2221+291C>T single nucleotide variant not provided [RCV001655259] Chr3:53727290 [GRCh38]
Chr3:53761317 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.3787-252GT[11] microsatellite not provided [RCV001576316] Chr3:53761745..53761746 [GRCh38]
Chr3:53795772..53795773 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1391-130C>T single nucleotide variant not provided [RCV001560872] Chr3:53718171 [GRCh38]
Chr3:53752198 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4792+171G>A single nucleotide variant not provided [RCV001684738] Chr3:53781838 [GRCh38]
Chr3:53815865 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.2752-228G>A single nucleotide variant not provided [RCV001588786] Chr3:53740052 [GRCh38]
Chr3:53774079 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3916-36T>G single nucleotide variant not provided [RCV001598574] Chr3:53770388 [GRCh38]
Chr3:53804415 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2473+175G>A single nucleotide variant not provided [RCV001615801] Chr3:53732257 [GRCh38]
Chr3:53766284 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.767-12dup duplication not provided [RCV001596630] Chr3:53665639..53665640 [GRCh38]
Chr3:53699666..53699667 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4923+239C>T single nucleotide variant not provided [RCV001556042] Chr3:53787191 [GRCh38]
Chr3:53821218 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2811+224A>G single nucleotide variant not provided [RCV001615733] Chr3:53740563 [GRCh38]
Chr3:53774590 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.5435+265G>A single nucleotide variant not provided [RCV001612596] Chr3:53802438 [GRCh38]
Chr3:53836465 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.5872-81G>A single nucleotide variant not provided [RCV001576984] Chr3:53809897 [GRCh38]
Chr3:53843924 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5409-239A>G single nucleotide variant not provided [RCV001556441] Chr3:53801908 [GRCh38]
Chr3:53835935 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5585+224G>T single nucleotide variant not provided [RCV001687231] Chr3:53803796 [GRCh38]
Chr3:53837823 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.3517-236C>T single nucleotide variant not provided [RCV001609426] Chr3:53751513 [GRCh38]
Chr3:53785540 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.3315-81G>A single nucleotide variant not provided [RCV001621430] Chr3:53749187 [GRCh38]
Chr3:53783214 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.6193-32C>A single nucleotide variant not provided [RCV001551046] Chr3:53811081 [GRCh38]
Chr3:53845108 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2474-243G>C single nucleotide variant not provided [RCV001562114] Chr3:53732572 [GRCh38]
Chr3:53766599 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3517-26G>A single nucleotide variant not provided [RCV001693015] Chr3:53751723 [GRCh38]
Chr3:53785750 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.1117-264TG[27] microsatellite not provided [RCV001676134] Chr3:53672759..53672764 [GRCh38]
Chr3:53706786..53706791 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.1391-33G>A single nucleotide variant not provided [RCV001682613] Chr3:53718268 [GRCh38]
Chr3:53752295 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.3115-25A>G single nucleotide variant not provided [RCV001654412] Chr3:53745798 [GRCh38]
Chr3:53779825 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.3167+180A>G single nucleotide variant not provided [RCV001709967] Chr3:53746055 [GRCh38]
Chr3:53780082 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.2222-308G>A single nucleotide variant not provided [RCV001681933] Chr3:53730134 [GRCh38]
Chr3:53764161 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.1221-72G>A single nucleotide variant not provided [RCV001562900] Chr3:53702569 [GRCh38]
Chr3:53736596 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1391-208T>C single nucleotide variant not provided [RCV001694317] Chr3:53718093 [GRCh38]
Chr3:53752120 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.3314+69G>C single nucleotide variant not provided [RCV001563229] Chr3:53747517 [GRCh38]
Chr3:53781544 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1117-264TG[24] microsatellite not provided [RCV001656679] Chr3:53672759..53672770 [GRCh38]
Chr3:53706786..53706797 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.3516+255G>A single nucleotide variant not provided [RCV001656528] Chr3:53749724 [GRCh38]
Chr3:53783751 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.3168-294T>A single nucleotide variant not provided [RCV001673429] Chr3:53747008 [GRCh38]
Chr3:53781035 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.2222-196TTTTG[4] microsatellite not provided [RCV001673480] Chr3:53730246..53730255 [GRCh38]
Chr3:53764273..53764282 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.4044+222C>T single nucleotide variant not provided [RCV001687679] Chr3:53770774 [GRCh38]
Chr3:53804801 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.2562G>A (p.Lys854=) single nucleotide variant not provided [RCV001726652]|not specified [RCV001700890] Chr3:53732903 [GRCh38]
Chr3:53766930 [GRCh37]
Chr3:3p21.1		 benign|uncertain significance
NM_001128840.3(CACNA1D):c.2406+199A>G single nucleotide variant not provided [RCV001575698] Chr3:53731345 [GRCh38]
Chr3:53765372 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1667-302A>T single nucleotide variant not provided [RCV001587769] Chr3:53723132 [GRCh38]
Chr3:53757159 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2811+271dup duplication not provided [RCV001650380] Chr3:53740598..53740599 [GRCh38]
Chr3:53774625..53774626 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.3787-252GT[9] microsatellite not provided [RCV001635625] Chr3:53761746..53761747 [GRCh38]
Chr3:53795773..53795774 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.5585+79C>T single nucleotide variant not provided [RCV001540252] Chr3:53803651 [GRCh38]
Chr3:53837678 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3168-5T>C single nucleotide variant not provided [RCV000930293] Chr3:53747297 [GRCh38]
Chr3:53781324 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2742C>T (p.Phe914=) single nucleotide variant CACNA1D-related condition [RCV003958288]|not provided [RCV000909051]|not specified [RCV001700504] Chr3:53735494 [GRCh38]
Chr3:53769521 [GRCh37]
Chr3:3p21.1		 benign|likely benign
NM_001128840.3(CACNA1D):c.5421T>C (p.Tyr1807=) single nucleotide variant not provided [RCV000931769] Chr3:53802159 [GRCh38]
Chr3:53836186 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3854C>T (p.Ala1285Val) single nucleotide variant CACNA1D-related condition [RCV003895519]|not provided [RCV000907407] Chr3:53762065 [GRCh38]
Chr3:53796092 [GRCh37]
Chr3:3p21.1		 benign|likely benign
NM_001128840.3(CACNA1D):c.1113C>T (p.Tyr371=) single nucleotide variant not provided [RCV000905720] Chr3:53666532 [GRCh38]
Chr3:53700559 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5847G>A (p.Leu1949=) single nucleotide variant not provided [RCV000916720] Chr3:53808746 [GRCh38]
Chr3:53842773 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2712C>T (p.Ala904=) single nucleotide variant not provided [RCV000892556] Chr3:53735464 [GRCh38]
Chr3:53769491 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3861C>T (p.Ser1287=) single nucleotide variant not provided [RCV000907467] Chr3:53762072 [GRCh38]
Chr3:53796099 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1633T>G (p.Tyr545Asp) single nucleotide variant not provided [RCV001760551] Chr3:53722441 [GRCh38]
Chr3:53756468 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3930C>T (p.Ser1310=) single nucleotide variant not provided [RCV000902188] Chr3:53770438 [GRCh38]
Chr3:53804465 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.6090C>T (p.Asp2030=) single nucleotide variant not provided [RCV000929336] Chr3:53810196 [GRCh38]
Chr3:53844223 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1887G>A (p.Val629=) single nucleotide variant not provided [RCV000938867] Chr3:53723654 [GRCh38]
Chr3:53757681 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.924C>T (p.Ile308=) single nucleotide variant not provided [RCV000978865] Chr3:53666343 [GRCh38]
Chr3:53700370 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5906C>A (p.Ala1969Asp) single nucleotide variant Aldosterone-producing adenoma with seizures and neurological abnormalities [RCV001198818] Chr3:53810012 [GRCh38]
Chr3:53844039 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3315-109C>T single nucleotide variant not provided [RCV001665204] Chr3:53749159 [GRCh38]
Chr3:53783186 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4924-185C>A single nucleotide variant not provided [RCV001643842] Chr3:53800064 [GRCh38]
Chr3:53834091 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.5440G>A (p.Asp1814Asn) single nucleotide variant not provided [RCV001561867] Chr3:53803427 [GRCh38]
Chr3:53837454 [GRCh37]
Chr3:3p21.1		 likely benign|conflicting interpretations of pathogenicity
NM_001128840.3(CACNA1D):c.1112A>C (p.Tyr371Ser) single nucleotide variant not provided [RCV001730325] Chr3:53666531 [GRCh38]
Chr3:53700558 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.459T>C (p.Asp153=) single nucleotide variant not provided [RCV001557353] Chr3:53501696 [GRCh38]
Chr3:53535723 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3168-67C>A single nucleotide variant not provided [RCV001547981] Chr3:53747235 [GRCh38]
Chr3:53781262 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2248A>T (p.Ile750Phe) single nucleotide variant Sinoatrial node dysfunction and deafness [RCV000987279] Chr3:53730468 [GRCh38]
Chr3:53764495 [GRCh37]
Chr3:3p21.1		 likely pathogenic
NM_001128840.3(CACNA1D):c.4690+42G>A single nucleotide variant Aldosterone-producing adenoma with seizures and neurological abnormalities [RCV001554787]|Sinoatrial node dysfunction and deafness [RCV001554788]|not provided [RCV001694123] Chr3:53780170 [GRCh38]
Chr3:53814197 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.4923+187G>A single nucleotide variant not provided [RCV001548662] Chr3:53787139 [GRCh38]
Chr3:53821166 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4793-254A>C single nucleotide variant not provided [RCV001548301] Chr3:53786568 [GRCh38]
Chr3:53820595 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1117-204_1117-201del deletion not provided [RCV001567789] Chr3:53672817..53672820 [GRCh38]
Chr3:53706844..53706847 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5411C>A (p.Thr1804Asn) single nucleotide variant not provided [RCV001577974] Chr3:53802149 [GRCh38]
Chr3:53836176 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2222-267T>G single nucleotide variant not provided [RCV001558068] Chr3:53730175 [GRCh38]
Chr3:53764202 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.377+13T>G single nucleotide variant not provided [RCV001558482] Chr3:53497474 [GRCh38]
Chr3:53531501 [GRCh37]
Chr3:3p21.1		 benign|likely benign
NM_001128840.3(CACNA1D):c.3676-135C>T single nucleotide variant not provided [RCV001563506] Chr3:53753437 [GRCh38]
Chr3:53787464 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4111-116A>G single nucleotide variant not provided [RCV001570672] Chr3:53774471 [GRCh38]
Chr3:53808498 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5040+120G>C single nucleotide variant not provided [RCV001558157] Chr3:53800485 [GRCh38]
Chr3:53834512 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3995G>A (p.Arg1332Lys) single nucleotide variant not provided [RCV001558228] Chr3:53770503 [GRCh38]
Chr3:53804530 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2751+166G>T single nucleotide variant not provided [RCV001558229] Chr3:53735669 [GRCh38]
Chr3:53769696 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2812-325dup duplication not provided [RCV001552672] Chr3:53742685..53742686 [GRCh38]
Chr3:53776712..53776713 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4464A>G (p.Ile1488Met) single nucleotide variant not specified [RCV003230931] Chr3:53776704 [GRCh38]
Chr3:53810731 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2100+279A>G single nucleotide variant not provided [RCV001552887] Chr3:53724278 [GRCh38]
Chr3:53758305 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4110+223C>T single nucleotide variant not provided [RCV001649315] Chr3:53773121 [GRCh38]
Chr3:53807148 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.5936G>A (p.Arg1979Gln) single nucleotide variant not provided [RCV001553118] Chr3:53810042 [GRCh38]
Chr3:53844069 [GRCh37]
Chr3:3p21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001128840.3(CACNA1D):c.1506-194C>T single nucleotide variant not provided [RCV001559923] Chr3:53722120 [GRCh38]
Chr3:53756147 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4045-55G>A single nucleotide variant not provided [RCV001559928] Chr3:53772778 [GRCh38]
Chr3:53806805 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3455T>C (p.Ile1152Thr) single nucleotide variant Aldosterone-producing adenoma with seizures and neurological abnormalities [RCV002254537] Chr3:53749408 [GRCh38]
Chr3:53783435 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4691-121G>A single nucleotide variant not provided [RCV001564133] Chr3:53781445 [GRCh38]
Chr3:53815472 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5749+257A>T single nucleotide variant not provided [RCV001560429] Chr3:53805403 [GRCh38]
Chr3:53839430 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4924-161A>G single nucleotide variant not provided [RCV001596371] Chr3:53800088 [GRCh38]
Chr3:53834115 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5118C>T (p.Thr1706=) single nucleotide variant not provided [RCV001658968] Chr3:53801135 [GRCh38]
Chr3:53835162 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.920-13G>C single nucleotide variant not provided [RCV001576398] Chr3:53666326 [GRCh38]
Chr3:53700353 [GRCh37]
Chr3:3p21.1		 benign|likely benign
NM_001128840.3(CACNA1D):c.6325G>C (p.Gly2109Arg) single nucleotide variant not provided [RCV003231809] Chr3:53811245 [GRCh38]
Chr3:53845272 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3916-180C>T single nucleotide variant not provided [RCV001560976] Chr3:53770244 [GRCh38]
Chr3:53804271 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3315-28G>C single nucleotide variant not provided [RCV001561114] Chr3:53749240 [GRCh38]
Chr3:53783267 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2336+88del deletion not provided [RCV001561121] Chr3:53730644 [GRCh38]
Chr3:53764671 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1666+159C>T single nucleotide variant not provided [RCV001556469] Chr3:53722633 [GRCh38]
Chr3:53756660 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4976C>T (p.Ser1659Leu) single nucleotide variant Inborn genetic diseases [RCV003276471] Chr3:53800301 [GRCh38]
Chr3:53834328 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1637A>G (p.Asn546Ser) single nucleotide variant not provided [RCV001700527] Chr3:53722445 [GRCh38]
Chr3:53756472 [GRCh37]
Chr3:3p21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001128840.3(CACNA1D):c.920-62G>A single nucleotide variant not provided [RCV001677509] Chr3:53666277 [GRCh38]
Chr3:53700304 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.5872-162C>T single nucleotide variant not provided [RCV001620999] Chr3:53809816 [GRCh38]
Chr3:53843843 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.3297G>A (p.Thr1099=) single nucleotide variant not provided [RCV002077150]|not specified [RCV001700667] Chr3:53747431 [GRCh38]
Chr3:53781458 [GRCh37]
Chr3:3p21.1		 benign|likely benign
NM_001128840.3(CACNA1D):c.1666+295C>T single nucleotide variant not provided [RCV001593481] Chr3:53722769 [GRCh38]
Chr3:53756796 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2919-146G>A single nucleotide variant not provided [RCV001671756] Chr3:53744594 [GRCh38]
Chr3:53778621 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.3314+262A>G single nucleotide variant not provided [RCV001677334] Chr3:53747710 [GRCh38]
Chr3:53781737 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.2100+223C>T single nucleotide variant not provided [RCV001618794] Chr3:53724222 [GRCh38]
Chr3:53758249 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.1221-111A>T single nucleotide variant not provided [RCV001597338] Chr3:53702530 [GRCh38]
Chr3:53736557 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.3006+139C>T single nucleotide variant not provided [RCV001672171] Chr3:53744966 [GRCh38]
Chr3:53778993 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.4203-238_4203-235del deletion not provided [RCV001716720] Chr3:53775646..53775649 [GRCh38]
Chr3:53809673..53809676 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.1117-264TG[28] microsatellite not provided [RCV001678183] Chr3:53672759..53672762 [GRCh38]
Chr3:53706786..53706789 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.2811+269T>G single nucleotide variant not provided [RCV001580780] Chr3:53740608 [GRCh38]
Chr3:53774635 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4202+45G>A single nucleotide variant not provided [RCV001641362] Chr3:53774723 [GRCh38]
Chr3:53808750 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.68-8C>T single nucleotide variant not provided [RCV001590820] Chr3:53497144 [GRCh38]
Chr3:53531171 [GRCh37]
Chr3:3p21.1		 benign|likely benign
NM_001128840.3(CACNA1D):c.2473+274C>T single nucleotide variant not provided [RCV001594218] Chr3:53732356 [GRCh38]
Chr3:53766383 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2221+45G>C single nucleotide variant not provided [RCV001715599] Chr3:53727044 [GRCh38]
Chr3:53761071 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.767-160A>G single nucleotide variant not provided [RCV001656416] Chr3:53665500 [GRCh38]
Chr3:53699527 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.1117-287C>T single nucleotide variant not provided [RCV001688687] Chr3:53672736 [GRCh38]
Chr3:53706763 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.1505+28C>T single nucleotide variant not provided [RCV001598298] Chr3:53719809 [GRCh38]
Chr3:53753836 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.4045-57G>C single nucleotide variant Aldosterone-producing adenoma with seizures and neurological abnormalities [RCV001554783]|Sinoatrial node dysfunction and deafness [RCV001554784]|not provided [RCV001694122] Chr3:53772776 [GRCh38]
Chr3:53806803 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.4045-43G>A single nucleotide variant Aldosterone-producing adenoma with seizures and neurological abnormalities [RCV001554785]|Sinoatrial node dysfunction and deafness [RCV001554786]|not provided [RCV001638174] Chr3:53772790 [GRCh38]
Chr3:53806817 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.4588-23G>T single nucleotide variant not provided [RCV001590891] Chr3:53780003 [GRCh38]
Chr3:53814030 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1939A>T (p.Met647Leu) single nucleotide variant CACNA1D-related condition [RCV003405748]|not provided [RCV001699863] Chr3:53723838 [GRCh38]
Chr3:53757865 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2812-21C>A single nucleotide variant not provided [RCV001656850] Chr3:53742990 [GRCh38]
Chr3:53777017 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.3167+179C>T single nucleotide variant not provided [RCV001674454] Chr3:53746054 [GRCh38]
Chr3:53780081 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.5750-221del deletion not provided [RCV001598941] Chr3:53808414 [GRCh38]
Chr3:53842441 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.4203-207del deletion not provided [RCV001658740] Chr3:53775677 [GRCh38]
Chr3:53809704 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5936G>C (p.Arg1979Pro) single nucleotide variant not provided [RCV001700902]|not specified [RCV001844409] Chr3:53810042 [GRCh38]
Chr3:53844069 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2407-122A>G single nucleotide variant not provided [RCV001638582] Chr3:53731894 [GRCh38]
Chr3:53765921 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.2919-147C>G single nucleotide variant not provided [RCV001659108] Chr3:53744593 [GRCh38]
Chr3:53778620 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.3516+289A>C single nucleotide variant not provided [RCV001599149] Chr3:53749758 [GRCh38]
Chr3:53783785 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.5692G>A (p.Val1898Ile) single nucleotide variant Inborn genetic diseases [RCV002592500]|not provided [RCV001588448] Chr3:53805089 [GRCh38]
Chr3:53839116 [GRCh37]
Chr3:3p21.1		 likely benign|conflicting interpretations of pathogenicity
NM_001128840.3(CACNA1D):c.1478+643G>A single nucleotide variant not provided [RCV001647833] Chr3:53719031 [GRCh38]
Chr3:53753058 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.1478+113C>T single nucleotide variant not provided [RCV001709416] Chr3:53718501 [GRCh38]
Chr3:53752528 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.4923+228C>T single nucleotide variant not provided [RCV001683942] Chr3:53787180 [GRCh38]
Chr3:53821207 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.2406+275A>G single nucleotide variant not provided [RCV001679906] Chr3:53731421 [GRCh38]
Chr3:53765448 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.5585+275C>T single nucleotide variant not provided [RCV001590500] Chr3:53803847 [GRCh38]
Chr3:53837874 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5378G>A (p.Arg1793Gln) single nucleotide variant not provided [RCV001585434] Chr3:53801395 [GRCh38]
Chr3:53835422 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5585+80G>A single nucleotide variant not provided [RCV001586610] Chr3:53803652 [GRCh38]
Chr3:53837679 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3114+18A>G single nucleotide variant not provided [RCV001707485] Chr3:53745749 [GRCh38]
Chr3:53779776 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.3168-260G>A single nucleotide variant not provided [RCV001648005] Chr3:53747042 [GRCh38]
Chr3:53781069 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.5749+297T>A single nucleotide variant not provided [RCV001650085] Chr3:53805443 [GRCh38]
Chr3:53839470 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.1116+180T>G single nucleotide variant not provided [RCV001669536] Chr3:53666715 [GRCh38]
Chr3:53700742 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.483+108del deletion not provided [RCV001583274] Chr3:53501828 [GRCh38]
Chr3:53535855 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4690+261G>A single nucleotide variant not provided [RCV001695665] Chr3:53780389 [GRCh38]
Chr3:53814416 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.5750-226A>C single nucleotide variant not provided [RCV001546419] Chr3:53808423 [GRCh38]
Chr3:53842450 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1590C>T (p.Ile530=) single nucleotide variant not provided [RCV001596167]|not specified [RCV001699824] Chr3:53722398 [GRCh38]
Chr3:53756425 [GRCh37]
Chr3:3p21.1		 benign|likely benign
NM_001128840.3(CACNA1D):c.766+107G>T single nucleotide variant not provided [RCV001545852] Chr3:53660382 [GRCh38]
Chr3:53694409 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.-54T>C single nucleotide variant Aldosterone-producing adenoma with seizures and neurological abnormalities [RCV001554659]|Sinoatrial node dysfunction and deafness [RCV001554660]|not provided [RCV001685524] Chr3:53495113 [GRCh38]
Chr3:53529140 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.2473+103A>T single nucleotide variant Aldosterone-producing adenoma with seizures and neurological abnormalities [RCV001554663]|Sinoatrial node dysfunction and deafness [RCV001554664]|not provided [RCV001694118] Chr3:53732185 [GRCh38]
Chr3:53766212 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.3787-221C>T single nucleotide variant not provided [RCV001725346] Chr3:53761777 [GRCh38]
Chr3:53795804 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.2221+130del deletion not provided [RCV001683823] Chr3:53727129 [GRCh38]
Chr3:53761156 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.3786+289T>C single nucleotide variant not provided [RCV001586209] Chr3:53753971 [GRCh38]
Chr3:53787998 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5436-204T>C single nucleotide variant not provided [RCV001614797] Chr3:53803219 [GRCh38]
Chr3:53837246 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.2222-196TTTTG[5] microsatellite not provided [RCV001612832] Chr3:53730246..53730250 [GRCh38]
Chr3:53764273..53764277 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.1667-302A>C single nucleotide variant not provided [RCV001610872] Chr3:53723132 [GRCh38]
Chr3:53757159 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.3676-123C>T single nucleotide variant not provided [RCV001589886] Chr3:53753449 [GRCh38]
Chr3:53787476 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5017G>A (p.Glu1673Lys) single nucleotide variant CACNA1D-related condition [RCV003405716]|Inborn genetic diseases [RCV002569033]|not provided [RCV001567041] Chr3:53800342 [GRCh38]
Chr3:53834369 [GRCh37]
Chr3:3p21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001128840.3(CACNA1D):c.4691-276A>C single nucleotide variant not provided [RCV001710430] Chr3:53781290 [GRCh38]
Chr3:53815317 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.4509del (p.Asp1504fs) deletion Intellectual disability [RCV001251930] Chr3:53776877 [GRCh38]
Chr3:53810904 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2732G>A (p.Ser911Asn) single nucleotide variant Intellectual disability [RCV001251926] Chr3:53735484 [GRCh38]
Chr3:53769511 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1384C>G (p.Arg462Gly) single nucleotide variant Intellectual disability [RCV001251925]|not provided [RCV002568721] Chr3:53702804 [GRCh38]
Chr3:53736831 [GRCh37]
Chr3:3p21.1		 likely benign|uncertain significance
NM_001128840.3(CACNA1D):c.1117-206_1117-201del deletion not provided [RCV001581063] Chr3:53672815..53672820 [GRCh38]
Chr3:53706842..53706847 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.658G>C (p.Glu220Gln) single nucleotide variant Aldosterone-producing adenoma with seizures and neurological abnormalities [RCV001334563] Chr3:53660167 [GRCh38]
Chr3:53694194 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.920-39T>G single nucleotide variant not provided [RCV001539932] Chr3:53666300 [GRCh38]
Chr3:53700327 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2101-232A>G single nucleotide variant not provided [RCV001568248] Chr3:53726647 [GRCh38]
Chr3:53760674 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5342C>G (p.Ser1781Cys) single nucleotide variant Seizure [RCV001281453] Chr3:53801359 [GRCh38]
Chr3:53835386 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2165C>T (p.Ser722Phe) single nucleotide variant Seizure [RCV001263290]|not provided [RCV002537651] Chr3:53726943 [GRCh38]
Chr3:53760970 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5871+47A>C single nucleotide variant not provided [RCV001564993] Chr3:53808817 [GRCh38]
Chr3:53842844 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2221+326C>T single nucleotide variant not provided [RCV001565069] Chr3:53727325 [GRCh38]
Chr3:53761352 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1505+207A>G single nucleotide variant not provided [RCV001581299] Chr3:53719988 [GRCh38]
Chr3:53754015 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4924-6A>G single nucleotide variant Aldosterone-producing adenoma with seizures and neurological abnormalities [RCV001334562]|not provided [RCV002070186] Chr3:53800243 [GRCh38]
Chr3:53834270 [GRCh37]
Chr3:3p21.1		 likely benign|uncertain significance
NM_001128840.3(CACNA1D):c.2812-166T>G single nucleotide variant not provided [RCV001539170] Chr3:53742845 [GRCh38]
Chr3:53776872 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.908T>C (p.Phe303Ser) single nucleotide variant CACNA1D-related neurodevelopmental and endocrine disorders [RCV001270764] Chr3:53665801 [GRCh38]
Chr3:53699828 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2751+14G>T single nucleotide variant not provided [RCV001357403] Chr3:53735517 [GRCh38]
Chr3:53769544 [GRCh37]
Chr3:3p21.1		 likely benign|uncertain significance
NM_001128840.3(CACNA1D):c.3614C>T (p.Ser1205Leu) single nucleotide variant Hearing impairment [RCV001375421] Chr3:53751846 [GRCh38]
Chr3:53785873 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5887G>A (p.Gly1963Ser) single nucleotide variant not provided [RCV001356002] Chr3:53809993 [GRCh38]
Chr3:53844020 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2435A>T (p.Asp812Val) single nucleotide variant not provided [RCV001786657] Chr3:53732044 [GRCh38]
Chr3:53766071 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5492A>G (p.His1831Arg) single nucleotide variant Aldosterone-producing adenoma with seizures and neurological abnormalities [RCV001332569] Chr3:53803479 [GRCh38]
Chr3:53837506 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.74A>G (p.Asn25Ser) single nucleotide variant not specified [RCV001449707] Chr3:53497158 [GRCh38]
Chr3:53531185 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2414T>C (p.Ile805Thr) single nucleotide variant not provided [RCV001561793]|not specified [RCV001449708] Chr3:53732023 [GRCh38]
Chr3:53766050 [GRCh37]
Chr3:3p21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001128840.3(CACNA1D):c.4870G>A (p.Glu1624Lys) single nucleotide variant not provided [RCV001320757] Chr3:53786899 [GRCh38]
Chr3:53820926 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1955C>T (p.Ser652Leu) single nucleotide variant See cases [RCV001420265] Chr3:53723854 [GRCh38]
Chr3:53757881 [GRCh37]
Chr3:3p21.1		 likely pathogenic
NM_001128840.3(CACNA1D):c.3682G>A (p.Glu1228Lys) single nucleotide variant Hearing impairment [RCV001375248] Chr3:53753578 [GRCh38]
Chr3:53787605 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1116+2T>C single nucleotide variant Hearing impairment [RCV001375475]|not provided [RCV002550220] Chr3:53666537 [GRCh38]
Chr3:53700564 [GRCh37]
Chr3:3p21.1		 likely pathogenic|uncertain significance
NM_001128840.3(CACNA1D):c.971G>A (p.Arg324His) single nucleotide variant Aldosterone-producing adenoma with seizures and neurological abnormalities [RCV001376144]|not provided [RCV003325572] Chr3:53666390 [GRCh38]
Chr3:53700417 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2569A>C (p.Ile857Leu) single nucleotide variant Aldosterone-producing adenoma with seizures and neurological abnormalities [RCV001420601] Chr3:53732910 [GRCh38]
Chr3:53766937 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1391-182C>T single nucleotide variant not provided [RCV001536920] Chr3:53718119 [GRCh38]
Chr3:53752146 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3787-252GT[12] microsatellite not provided [RCV001541528] Chr3:53761745..53761746 [GRCh38]
Chr3:53795772..53795773 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.919+243A>G single nucleotide variant not provided [RCV001538435] Chr3:53666055 [GRCh38]
Chr3:53700082 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.4793-306A>C single nucleotide variant not provided [RCV001587986] Chr3:53786516 [GRCh38]
Chr3:53820543 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5435+230A>G single nucleotide variant not provided [RCV001588493] Chr3:53802403 [GRCh38]
Chr3:53836430 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.-181T>A single nucleotide variant not provided [RCV001669295] Chr3:53494986 [GRCh38]
Chr3:53529013 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.4690+15C>T single nucleotide variant not provided [RCV001684452] Chr3:53780143 [GRCh38]
Chr3:53814170 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.2752-129C>A single nucleotide variant not provided [RCV001538729] Chr3:53740151 [GRCh38]
Chr3:53774178 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4923+282T>G single nucleotide variant not provided [RCV001653276] Chr3:53787234 [GRCh38]
Chr3:53821261 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.2407-29C>T single nucleotide variant not provided [RCV001528052] Chr3:53731987 [GRCh38]
Chr3:53766014 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5585+189A>G single nucleotide variant not provided [RCV001654555] Chr3:53803761 [GRCh38]
Chr3:53837788 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.1117-264TG[22] microsatellite not provided [RCV001651778] Chr3:53672759..53672774 [GRCh38]
Chr3:53706786..53706801 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.2918+32T>C single nucleotide variant not provided [RCV001694423] Chr3:53743149 [GRCh38]
Chr3:53777176 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.1023C>T (p.Asn341=) single nucleotide variant CACNA1D-related condition [RCV003948631]|not provided [RCV001587204] Chr3:53666442 [GRCh38]
Chr3:53700469 [GRCh37]
Chr3:3p21.1		 benign|likely benign
NM_001128840.3(CACNA1D):c.4588-141C>T single nucleotide variant not provided [RCV001592356] Chr3:53779885 [GRCh38]
Chr3:53813912 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.623+58G>A single nucleotide variant not provided [RCV001690376] Chr3:53650976 [GRCh38]
Chr3:53685003 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.2101-198dup duplication not provided [RCV001681232] Chr3:53726673..53726674 [GRCh38]
Chr3:53760700..53760701 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.1220+450_1220+451del deletion not provided [RCV001540036] Chr3:53673563..53673564 [GRCh38]
Chr3:53707590..53707591 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.3516+288T>G single nucleotide variant not provided [RCV001538832] Chr3:53749757 [GRCh38]
Chr3:53783784 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.2281C>G (p.Leu761Val) single nucleotide variant not provided [RCV001756334] Chr3:53730501 [GRCh38]
Chr3:53764528 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6395A>G (p.Asp2132Gly) single nucleotide variant not provided [RCV001732504] Chr3:53811315 [GRCh38]
Chr3:53845342 [GRCh37]
Chr3:3p21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001128840.3(CACNA1D):c.3167+10C>G single nucleotide variant not provided [RCV003108390] Chr3:53745885 [GRCh38]
Chr3:53779912 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3099G>T (p.Gly1033=) single nucleotide variant not provided [RCV003108623] Chr3:53745716 [GRCh38]
Chr3:53779743 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4111-9_4111-7del deletion not provided [RCV003108633] Chr3:53774577..53774579 [GRCh38]
Chr3:53808604..53808606 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.375G>C (p.Trp125Cys) single nucleotide variant not provided [RCV003109073] Chr3:53497459 [GRCh38]
Chr3:53531486 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.757G>T (p.Gly253Ter) single nucleotide variant not provided [RCV001762780] Chr3:53660266 [GRCh38]
Chr3:53694293 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5329C>T (p.Leu1777Phe) single nucleotide variant See cases [RCV002252657] Chr3:53801346 [GRCh38]
Chr3:53835373 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3682G>C (p.Glu1228Gln) single nucleotide variant not provided [RCV003238687] Chr3:53753578 [GRCh38]
Chr3:53787605 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2306C>A (p.Ala769Glu) single nucleotide variant not provided [RCV001758667] Chr3:53730526 [GRCh38]
Chr3:53764553 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.731T>G (p.Val244Gly) single nucleotide variant CACNA1D-related disorder [RCV001825029]|not provided [RCV001763982] Chr3:53660240 [GRCh38]
Chr3:53694267 [GRCh37]
Chr3:3p21.1		 uncertain significance|not provided
NM_001128840.3(CACNA1D):c.3027C>A (p.Phe1009Leu) single nucleotide variant not provided [RCV001770560] Chr3:53745644 [GRCh38]
Chr3:53779671 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.166G>C (p.Ala56Pro) single nucleotide variant not provided [RCV001751922] Chr3:53497250 [GRCh38]
Chr3:53531277 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5836C>T (p.Arg1946Cys) single nucleotide variant not provided [RCV001763663] Chr3:53808735 [GRCh38]
Chr3:53842762 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3137A>G (p.Asp1046Gly) single nucleotide variant not provided [RCV001765317] Chr3:53745845 [GRCh38]
Chr3:53779872 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3385T>G (p.Ser1129Ala) single nucleotide variant not provided [RCV001773862] Chr3:53749338 [GRCh38]
Chr3:53783365 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5872-66C>T single nucleotide variant not provided [RCV001799871] Chr3:53809912 [GRCh38]
Chr3:53843939 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1007G>T (p.Gly336Val) single nucleotide variant not provided [RCV001767897] Chr3:53666426 [GRCh38]
Chr3:53700453 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.757G>A (p.Gly253Arg) single nucleotide variant not provided [RCV001754388] Chr3:53660266 [GRCh38]
Chr3:53694293 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3374G>A (p.Arg1125His) single nucleotide variant not provided [RCV001774564] Chr3:53749327 [GRCh38]
Chr3:53783354 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4925C>T (p.Ala1642Val) single nucleotide variant not provided [RCV001767350] Chr3:53800250 [GRCh38]
Chr3:53834277 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3784A>T (p.Lys1262Ter) single nucleotide variant not provided [RCV001754721] Chr3:53753680 [GRCh38]
Chr3:53787707 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3847G>C (p.Asp1283His) single nucleotide variant not provided [RCV001773012] Chr3:53762058 [GRCh38]
Chr3:53796085 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4737_4738del (p.Lys1579fs) deletion not provided [RCV001773289] Chr3:53781610..53781611 [GRCh38]
Chr3:53815637..53815638 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6124A>C (p.Thr2042Pro) single nucleotide variant not provided [RCV001764955] Chr3:53810230 [GRCh38]
Chr3:53844257 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1498A>G (p.Lys500Glu) single nucleotide variant not provided [RCV001751977] Chr3:53719774 [GRCh38]
Chr3:53753801 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6091A>G (p.Ile2031Val) single nucleotide variant not provided [RCV001764753] Chr3:53810197 [GRCh38]
Chr3:53844224 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5972G>A (p.Arg1991Gln) single nucleotide variant not provided [RCV001769125] Chr3:53810078 [GRCh38]
Chr3:53844105 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3317del (p.Leu1106fs) deletion not provided [RCV001769182] Chr3:53749269 [GRCh38]
Chr3:53783296 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4924-51C>T single nucleotide variant not provided [RCV001733027] Chr3:53800198 [GRCh38]
Chr3:53834225 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.280C>T (p.Gln94Ter) single nucleotide variant not provided [RCV001752625] Chr3:53497364 [GRCh38]
Chr3:53531391 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.47A>G (p.Gln16Arg) single nucleotide variant not provided [RCV001768509] Chr3:53495213 [GRCh38]
Chr3:53529240 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_000720.4(CACNA1D):c.1536G>C (p.Trp512Cys) single nucleotide variant not provided [RCV001768541] Chr3:53718739 [GRCh38]
Chr3:53752766 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4531C>T (p.Arg1511Cys) single nucleotide variant not provided [RCV001794806] Chr3:53776900 [GRCh38]
Chr3:53810927 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1277G>A (p.Arg426Gln) single nucleotide variant not provided [RCV001768985] Chr3:53702697 [GRCh38]
Chr3:53736724 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3671T>C (p.Met1224Thr) single nucleotide variant not provided [RCV001752687] Chr3:53751903 [GRCh38]
Chr3:53785930 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4697T>C (p.Leu1566Pro) single nucleotide variant not provided [RCV001769124] Chr3:53781572 [GRCh38]
Chr3:53815599 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.766A>C (p.Ser256Arg) single nucleotide variant not provided [RCV001754021] Chr3:53660275 [GRCh38]
Chr3:53694302 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4587G>C (p.Lys1529Asn) single nucleotide variant not provided [RCV001771105] Chr3:53776956 [GRCh38]
Chr3:53810983 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3937A>C (p.Ile1313Leu) single nucleotide variant not provided [RCV001754097] Chr3:53770445 [GRCh38]
Chr3:53804472 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1342A>G (p.Ile448Val) single nucleotide variant not provided [RCV001771289] Chr3:53702762 [GRCh38]
Chr3:53736789 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6019G>A (p.Glu2007Lys) single nucleotide variant not provided [RCV001806524] Chr3:53810125 [GRCh38]
Chr3:53844152 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2069A>G (p.Asn690Ser) single nucleotide variant not provided [RCV001795500] Chr3:53723968 [GRCh38]
Chr3:53757995 [GRCh37]
Chr3:3p21.1		 likely benign|uncertain significance
NM_001128840.3(CACNA1D):c.5786G>A (p.Arg1929His) single nucleotide variant CACNA1D-related condition [RCV003402017]|not provided [RCV002001440] Chr3:53808685 [GRCh38]
Chr3:53842712 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3315-126T>C single nucleotide variant not provided [RCV001797369] Chr3:53749142 [GRCh38]
Chr3:53783169 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5872-66C>G single nucleotide variant not provided [RCV001797529] Chr3:53809912 [GRCh38]
Chr3:53843939 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4559A>G (p.Lys1520Arg) single nucleotide variant not provided [RCV001758051] Chr3:53776928 [GRCh38]
Chr3:53810955 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4863A>T (p.Lys1621Asn) single nucleotide variant Aldosterone-producing adenoma with seizures and neurological abnormalities [RCV001808949] Chr3:53786892 [GRCh38]
Chr3:53820919 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3183C>T (p.Leu1061=) single nucleotide variant not provided [RCV003772305]|not specified [RCV001819643] Chr3:53747317 [GRCh38]
Chr3:53781344 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5993C>A (p.Thr1998Asn) single nucleotide variant not provided [RCV001869729]|not specified [RCV001820539] Chr3:53810099 [GRCh38]
Chr3:53844126 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.507G>A (p.Leu169=) single nucleotide variant not specified [RCV001820689] Chr3:53650802 [GRCh38]
Chr3:53684829 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2TGA[8] (p.Met7dup) microsatellite Inborn genetic diseases [RCV002542423]|not provided [RCV001810356] Chr3:53495165..53495166 [GRCh38]
Chr3:53529192..53529193 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2337-10T>C single nucleotide variant not provided [RCV002074299]|not specified [RCV001819255] Chr3:53731067 [GRCh38]
Chr3:53765094 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1463G>A (p.Cys488Tyr) single nucleotide variant not specified [RCV001820618] Chr3:53718373 [GRCh38]
Chr3:53752400 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4401C>T (p.Phe1467=) single nucleotide variant not specified [RCV001820619] Chr3:53776641 [GRCh38]
Chr3:53810668 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.6341G>T (p.Arg2114Leu) single nucleotide variant not provided [RCV001869737]|not specified [RCV001820682] Chr3:53811261 [GRCh38]
Chr3:53845288 [GRCh37]
Chr3:3p21.1		 likely benign|uncertain significance
NM_001128840.3(CACNA1D):c.4923+3G>A single nucleotide variant not specified [RCV001820690] Chr3:53786955 [GRCh38]
Chr3:53820982 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5473C>T (p.Arg1825Trp) single nucleotide variant not provided [RCV001885345]|not specified [RCV001822412] Chr3:53803460 [GRCh38]
Chr3:53837487 [GRCh37]
Chr3:3p21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001128840.3(CACNA1D):c.3369C>A (p.Asn1123Lys) single nucleotide variant not provided [RCV001885348]|not specified [RCV001822600] Chr3:53749322 [GRCh38]
Chr3:53783349 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6100C>T (p.Arg2034Trp) single nucleotide variant not provided [RCV001869773]|not specified [RCV001822741] Chr3:53810206 [GRCh38]
Chr3:53844233 [GRCh37]
Chr3:3p21.1		 likely benign|uncertain significance
NM_001128840.3(CACNA1D):c.5587C>T (p.Gln1863Ter) single nucleotide variant Aldosterone-producing adenoma with seizures and neurological abnormalities [RCV001808950] Chr3:53804984 [GRCh38]
Chr3:53839011 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.370_371insGCTATACTATAAAAAGGAT (p.Glu124fs) insertion not provided [RCV001907704] Chr3:53497454..53497455 [GRCh38]
Chr3:53531481..53531482 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.172G>A (p.Asp58Asn) single nucleotide variant not provided [RCV001889331] Chr3:53497256 [GRCh38]
Chr3:53531283 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_000720.4(CACNA1D):c.1189G>A (p.Val397Ile) single nucleotide variant not provided [RCV002045275] Chr3:53673785 [GRCh38]
Chr3:53707812 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.983C>A (p.Ala328Asp) single nucleotide variant not provided [RCV001891106] Chr3:53666402 [GRCh38]
Chr3:53700429 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2423A>G (p.Tyr808Cys) single nucleotide variant not provided [RCV001864118] Chr3:53732032 [GRCh38]
Chr3:53766059 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2479G>A (p.Glu827Lys) single nucleotide variant not provided [RCV001864433] Chr3:53732820 [GRCh38]
Chr3:53766847 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1777T>C (p.Phe593Leu) single nucleotide variant not provided [RCV001895036] Chr3:53723544 [GRCh38]
Chr3:53757571 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3055A>G (p.Met1019Val) single nucleotide variant not provided [RCV001863493] Chr3:53745672 [GRCh38]
Chr3:53779699 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5645G>A (p.Arg1882Gln) single nucleotide variant not provided [RCV001987660] Chr3:53805042 [GRCh38]
Chr3:53839069 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2750C>T (p.Thr917Met) single nucleotide variant not provided [RCV002009236] Chr3:53735502 [GRCh38]
Chr3:53769529 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.313G>A (p.Ala105Thr) single nucleotide variant not provided [RCV001949776] Chr3:53497397 [GRCh38]
Chr3:53531424 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5526G>C (p.Glu1842Asp) single nucleotide variant not provided [RCV002044053] Chr3:53803513 [GRCh38]
Chr3:53837540 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2424T>C (p.Tyr808=) single nucleotide variant not provided [RCV001896036] Chr3:53732033 [GRCh38]
Chr3:53766060 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2449C>A (p.Pro817Thr) single nucleotide variant not provided [RCV001988689] Chr3:53732058 [GRCh38]
Chr3:53766085 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5696G>A (p.Cys1899Tyr) single nucleotide variant not provided [RCV002024243] Chr3:53805093 [GRCh38]
Chr3:53839120 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2189T>C (p.Ile730Thr) single nucleotide variant not provided [RCV002008562] Chr3:53726967 [GRCh38]
Chr3:53760994 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5218C>T (p.His1740Tyr) single nucleotide variant not provided [RCV002025456] Chr3:53801235 [GRCh38]
Chr3:53835262 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6298G>A (p.Glu2100Lys) single nucleotide variant not provided [RCV001874912] Chr3:53811218 [GRCh38]
Chr3:53845245 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5101C>T (p.Leu1701Phe) single nucleotide variant not provided [RCV002045652] Chr3:53801118 [GRCh38]
Chr3:53835145 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5408G>C (p.Arg1803Thr) single nucleotide variant not provided [RCV001907907] Chr3:53801425 [GRCh38]
Chr3:53835452 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6217C>T (p.Arg2073Cys) single nucleotide variant not provided [RCV001985113] Chr3:53811137 [GRCh38]
Chr3:53845164 [GRCh37]
Chr3:3p21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001128840.3(CACNA1D):c.917C>T (p.Ser306Leu) single nucleotide variant not provided [RCV001927412] Chr3:53665810 [GRCh38]
Chr3:53699837 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3665T>C (p.Leu1222Ser) single nucleotide variant not provided [RCV001895175] Chr3:53751897 [GRCh38]
Chr3:53785924 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1030A>G (p.Ile344Val) single nucleotide variant not provided [RCV001928465] Chr3:53666449 [GRCh38]
Chr3:53700476 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2160C>T (p.Gly720=) single nucleotide variant not provided [RCV002074404]|not specified [RCV001844517] Chr3:53726938 [GRCh38]
Chr3:53760965 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5872-29G>A single nucleotide variant not provided [RCV001843650] Chr3:53809949 [GRCh38]
Chr3:53843976 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1007G>A (p.Gly336Asp) single nucleotide variant not provided [RCV001969379] Chr3:53666426 [GRCh38]
Chr3:53700453 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5836C>A (p.Arg1946Ser) single nucleotide variant not provided [RCV002025663] Chr3:53808735 [GRCh38]
Chr3:53842762 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3701A>T (p.Asn1234Ile) single nucleotide variant not provided [RCV001896648] Chr3:53753597 [GRCh38]
Chr3:53787624 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1591G>A (p.Val531Ile) single nucleotide variant not provided [RCV001913248] Chr3:53722399 [GRCh38]
Chr3:53756426 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2306C>T (p.Ala769Val) single nucleotide variant not provided [RCV001986562] Chr3:53730526 [GRCh38]
Chr3:53764553 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2841A>G (p.Lys947=) single nucleotide variant not provided [RCV001929694] Chr3:53743040 [GRCh38]
Chr3:53777067 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1584G>A (p.Leu528=) single nucleotide variant not provided [RCV002009165] Chr3:53722392 [GRCh38]
Chr3:53756419 [GRCh37]
Chr3:3p21.1		 likely benign|uncertain significance
NM_001128840.3(CACNA1D):c.2659A>G (p.Ile887Val) single nucleotide variant not provided [RCV002025187] Chr3:53735411 [GRCh38]
Chr3:53769438 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3413T>C (p.Ile1138Thr) single nucleotide variant Inborn genetic diseases [RCV002560522]|Sinoatrial node dysfunction and deafness [RCV002503636]|not provided [RCV001929347] Chr3:53749366 [GRCh38]
Chr3:53783393 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6314C>G (p.Thr2105Ser) single nucleotide variant not provided [RCV002005227] Chr3:53811234 [GRCh38]
Chr3:53845261 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2179A>T (p.Ile727Phe) single nucleotide variant not provided [RCV001947984] Chr3:53726957 [GRCh38]
Chr3:53760984 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5489T>C (p.Ile1830Thr) single nucleotide variant not provided [RCV002002781] Chr3:53803476 [GRCh38]
Chr3:53837503 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5436G>A (p.Arg1812=) single nucleotide variant not provided [RCV001966250] Chr3:53803423 [GRCh38]
Chr3:53837450 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6061C>T (p.Arg2021Cys) single nucleotide variant Aldosterone-producing adenoma with seizures and neurological abnormalities [RCV002266088]|not provided [RCV002020466] Chr3:53810167 [GRCh38]
Chr3:53844194 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4616A>T (p.Asn1539Ile) single nucleotide variant not provided [RCV002041918] Chr3:53780054 [GRCh38]
Chr3:53814081 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2953G>T (p.Val985Phe) single nucleotide variant not provided [RCV002040654] Chr3:53744774 [GRCh38]
Chr3:53778801 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3167+6C>T single nucleotide variant not provided [RCV001966582] Chr3:53745881 [GRCh38]
Chr3:53779908 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4123G>T (p.Val1375Phe) single nucleotide variant not provided [RCV001893128] Chr3:53774599 [GRCh38]
Chr3:53808626 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.669C>T (p.Gly223=) single nucleotide variant not provided [RCV002004154] Chr3:53660178 [GRCh38]
Chr3:53694205 [GRCh37]
Chr3:3p21.1		 likely benign|uncertain significance
NM_001128840.3(CACNA1D):c.362G>A (p.Ser121Asn) single nucleotide variant not provided [RCV001889759] Chr3:53497446 [GRCh38]
Chr3:53531473 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1701C>G (p.Thr567=) single nucleotide variant not provided [RCV001967261] Chr3:53723468 [GRCh38]
Chr3:53757495 [GRCh37]
Chr3:3p21.1		 likely benign|uncertain significance
NM_001128840.3(CACNA1D):c.5761T>G (p.Ser1921Ala) single nucleotide variant not provided [RCV001889618] Chr3:53808660 [GRCh38]
Chr3:53842687 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5656C>G (p.His1886Asp) single nucleotide variant not provided [RCV001911065] Chr3:53805053 [GRCh38]
Chr3:53839080 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_000720.4(CACNA1D):c.1535G>C (p.Trp512Ser) single nucleotide variant not provided [RCV001966781] Chr3:53718738 [GRCh38]
Chr3:53752765 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1690G>A (p.Ala564Thr) single nucleotide variant not provided [RCV001893513] Chr3:53723457 [GRCh38]
Chr3:53757484 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_000720.4(CACNA1D):c.1528C>T (p.Arg510Trp) single nucleotide variant Inborn genetic diseases [RCV002555268]|not provided [RCV001893554] Chr3:53718731 [GRCh38]
Chr3:53752758 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4563A>T (p.Leu1521Phe) single nucleotide variant not provided [RCV001825273] Chr3:53776932 [GRCh38]
Chr3:53810959 [GRCh37]
Chr3:3p21.1		 not provided
NM_001128840.3(CACNA1D):c.5871+6C>T single nucleotide variant not provided [RCV002021591] Chr3:53808776 [GRCh38]
Chr3:53842803 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3812C>A (p.Thr1271Lys) single nucleotide variant not provided [RCV001912295] Chr3:53762023 [GRCh38]
Chr3:53796050 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2222-14A>G single nucleotide variant not provided [RCV002022976] Chr3:53730428 [GRCh38]
Chr3:53764455 [GRCh37]
Chr3:3p21.1		 likely benign|uncertain significance
NM_001128840.3(CACNA1D):c.4864C>T (p.Arg1622Trp) single nucleotide variant Inborn genetic diseases [RCV002552978]|not provided [RCV001908321] Chr3:53786893 [GRCh38]
Chr3:53820920 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6142C>T (p.Arg2048Trp) single nucleotide variant Inborn genetic diseases [RCV003289389]|not provided [RCV002022902] Chr3:53810248 [GRCh38]
Chr3:53844275 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6152A>C (p.Asn2051Thr) single nucleotide variant not provided [RCV001965913] Chr3:53810258 [GRCh38]
Chr3:53844285 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2623A>G (p.Ile875Val) single nucleotide variant not provided [RCV001949102] Chr3:53735375 [GRCh38]
Chr3:53769402 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.648A>G (p.Gln216=) single nucleotide variant not provided [RCV001969461] Chr3:53660157 [GRCh38]
Chr3:53694184 [GRCh37]
Chr3:3p21.1		 likely benign|uncertain significance
NM_001128840.3(CACNA1D):c.5194G>T (p.Ala1732Ser) single nucleotide variant not provided [RCV002024730] Chr3:53801211 [GRCh38]
Chr3:53835238 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3368A>G (p.Asn1123Ser) single nucleotide variant not provided [RCV002044604] Chr3:53749321 [GRCh38]
Chr3:53783348 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2143A>G (p.Ile715Val) single nucleotide variant Sinoatrial node dysfunction and deafness [RCV002482403]|not provided [RCV002041457] Chr3:53726921 [GRCh38]
Chr3:53760948 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6352G>T (p.Asp2118Tyr) single nucleotide variant not provided [RCV002043652] Chr3:53811272 [GRCh38]
Chr3:53845299 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1385G>A (p.Arg462Gln) single nucleotide variant not provided [RCV001969850] Chr3:53702805 [GRCh38]
Chr3:53736832 [GRCh37]
Chr3:3p21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001128840.3(CACNA1D):c.3932A>G (p.Asn1311Ser) single nucleotide variant not provided [RCV001987305] Chr3:53770440 [GRCh38]
Chr3:53804467 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5741C>T (p.Thr1914Ile) single nucleotide variant not provided [RCV001910438] Chr3:53805138 [GRCh38]
Chr3:53839165 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1398G>C (p.Met466Ile) single nucleotide variant not provided [RCV001891677] Chr3:53718308 [GRCh38]
Chr3:53752335 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2509C>G (p.Pro837Ala) single nucleotide variant not provided [RCV001894273] Chr3:53732850 [GRCh38]
Chr3:53766877 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2785A>G (p.Ile929Val) single nucleotide variant Inborn genetic diseases [RCV002561391]|not provided [RCV001964890] Chr3:53740313 [GRCh38]
Chr3:53774340 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1678A>G (p.Lys560Glu) single nucleotide variant Sinoatrial node dysfunction and deafness [RCV002482721]|not provided [RCV001911128] Chr3:53723445 [GRCh38]
Chr3:53757472 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1116+5G>A single nucleotide variant not provided [RCV001969253] Chr3:53666540 [GRCh38]
Chr3:53700567 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3127C>T (p.Arg1043Cys) single nucleotide variant not provided [RCV001948971] Chr3:53745835 [GRCh38]
Chr3:53779862 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2629G>A (p.Val877Ile) single nucleotide variant not provided [RCV002042601] Chr3:53735381 [GRCh38]
Chr3:53769408 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3571A>C (p.Lys1191Gln) single nucleotide variant not provided [RCV001871407] Chr3:53751803 [GRCh38]
Chr3:53785830 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.335A>G (p.Asn112Ser) single nucleotide variant not provided [RCV002041123] Chr3:53497419 [GRCh38]
Chr3:53531446 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5332G>A (p.Glu1778Lys) single nucleotide variant not provided [RCV001986421] Chr3:53801349 [GRCh38]
Chr3:53835376 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6349G>A (p.Gly2117Arg) single nucleotide variant Sinoatrial node dysfunction and deafness [RCV002479517]|not provided [RCV001949009] Chr3:53811269 [GRCh38]
Chr3:53845296 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4865G>A (p.Arg1622Gln) single nucleotide variant not provided [RCV002024264] Chr3:53786894 [GRCh38]
Chr3:53820921 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3315-181T>A single nucleotide variant not provided [RCV001837156] Chr3:53749087 [GRCh38]
Chr3:53783114 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.272G>A (p.Ser91Asn) single nucleotide variant not provided [RCV001890863] Chr3:53497356 [GRCh38]
Chr3:53531383 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3691A>G (p.Lys1231Glu) single nucleotide variant not provided [RCV002004493] Chr3:53753587 [GRCh38]
Chr3:53787614 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.993G>A (p.Thr331=) single nucleotide variant not provided [RCV002041573] Chr3:53666412 [GRCh38]
Chr3:53700439 [GRCh37]
Chr3:3p21.1		 likely benign|uncertain significance
NM_001128840.3(CACNA1D):c.3535G>A (p.Ala1179Thr) single nucleotide variant not provided [RCV001985790] Chr3:53751767 [GRCh38]
Chr3:53785794 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4127C>A (p.Ala1376Asp) single nucleotide variant not provided [RCV001945988] Chr3:53774603 [GRCh38]
Chr3:53808630 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6034G>A (p.Val2012Met) single nucleotide variant not provided [RCV002022598] Chr3:53810140 [GRCh38]
Chr3:53844167 [GRCh37]
Chr3:3p21.1		 likely benign|uncertain significance
NM_001128840.3(CACNA1D):c.5474G>A (p.Arg1825Gln) single nucleotide variant not provided [RCV001894704] Chr3:53803461 [GRCh38]
Chr3:53837488 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.522C>A (p.Val174=) single nucleotide variant not provided [RCV002042339] Chr3:53650817 [GRCh38]
Chr3:53684844 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5016AGA[5] (p.Glu1675dup) microsatellite not provided [RCV002021681] Chr3:53800340..53800341 [GRCh38]
Chr3:53834367..53834368 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6076A>C (p.Thr2026Pro) single nucleotide variant not provided [RCV001985862] Chr3:53810182 [GRCh38]
Chr3:53844209 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.41G>A (p.Arg14Gln) single nucleotide variant not provided [RCV001984397] Chr3:53495207 [GRCh38]
Chr3:53529234 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3689C>G (p.Ser1230Cys) single nucleotide variant not provided [RCV002004111] Chr3:53753585 [GRCh38]
Chr3:53787612 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1391-7C>A single nucleotide variant not provided [RCV001983657] Chr3:53718294 [GRCh38]
Chr3:53752321 [GRCh37]
Chr3:3p21.1		 likely benign|uncertain significance
NM_001128840.3(CACNA1D):c.1300G>C (p.Asp434His) single nucleotide variant Inborn genetic diseases [RCV003170433]|not provided [RCV001983807] Chr3:53702720 [GRCh38]
Chr3:53736747 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2436T>G (p.Asp812Glu) single nucleotide variant not provided [RCV001983729] Chr3:53732045 [GRCh38]
Chr3:53766072 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3352A>G (p.Ile1118Val) single nucleotide variant not provided [RCV001993618] Chr3:53749305 [GRCh38]
Chr3:53783332 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.965A>G (p.Asn322Ser) single nucleotide variant not provided [RCV001963722] Chr3:53666384 [GRCh38]
Chr3:53700411 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4184C>T (p.Ala1395Val) single nucleotide variant not provided [RCV001959593] Chr3:53774660 [GRCh38]
Chr3:53808687 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1478+291T>C single nucleotide variant not provided [RCV001887563] Chr3:53718679 [GRCh38]
Chr3:53752706 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2783C>G (p.Ala928Gly) single nucleotide variant not provided [RCV002038909] Chr3:53740311 [GRCh38]
Chr3:53774338 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6040G>A (p.Gly2014Ser) single nucleotide variant not provided [RCV002000749] Chr3:53810146 [GRCh38]
Chr3:53844173 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_000720.4(CACNA1D):c.1479G>A (p.Trp493Ter) single nucleotide variant not provided [RCV001897945] Chr3:53718682 [GRCh38]
Chr3:53752709 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4972A>G (p.Ile1658Val) single nucleotide variant not provided [RCV001886696] Chr3:53800297 [GRCh38]
Chr3:53834324 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4310G>A (p.Ser1437Asn) single nucleotide variant not provided [RCV001961921] Chr3:53775993 [GRCh38]
Chr3:53810020 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4959A>T (p.Glu1653Asp) single nucleotide variant not provided [RCV002018361] Chr3:53800284 [GRCh38]
Chr3:53834311 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5771A>C (p.Asn1924Thr) single nucleotide variant not provided [RCV002001253] Chr3:53808670 [GRCh38]
Chr3:53842697 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2509C>T (p.Pro837Ser) single nucleotide variant not provided [RCV002020206] Chr3:53732850 [GRCh38]
Chr3:53766877 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.495A>G (p.Glu165=) single nucleotide variant not provided [RCV001944749] Chr3:53650790 [GRCh38]
Chr3:53684817 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.905T>A (p.Phe302Tyr) single nucleotide variant not provided [RCV001942788] Chr3:53665798 [GRCh38]
Chr3:53699825 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5548G>A (p.Glu1850Lys) single nucleotide variant not provided [RCV001963426] Chr3:53803535 [GRCh38]
Chr3:53837562 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6331G>A (p.Val2111Met) single nucleotide variant not provided [RCV001944279] Chr3:53811251 [GRCh38]
Chr3:53845278 [GRCh37]
Chr3:3p21.1		 likely benign|uncertain significance
NM_001128840.3(CACNA1D):c.5420A>G (p.Tyr1807Cys) single nucleotide variant not provided [RCV001941196] Chr3:53802158 [GRCh38]
Chr3:53836185 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5338G>A (p.Val1780Met) single nucleotide variant not provided [RCV002029865] Chr3:53801355 [GRCh38]
Chr3:53835382 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.127C>T (p.Pro43Ser) single nucleotide variant Inborn genetic diseases [RCV002558479]|not provided [RCV001954761] Chr3:53497211 [GRCh38]
Chr3:53531238 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5786G>C (p.Arg1929Pro) single nucleotide variant not provided [RCV001884326] Chr3:53808685 [GRCh38]
Chr3:53842712 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1104_1105inv (p.Val369Met) inversion not provided [RCV001875143] Chr3:53666523..53666524 [GRCh38]
Chr3:53700550..53700551 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3128G>A (p.Arg1043His) single nucleotide variant not provided [RCV001940743] Chr3:53745836 [GRCh38]
Chr3:53779863 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6325G>A (p.Gly2109Arg) single nucleotide variant not provided [RCV001942459] Chr3:53811245 [GRCh38]
Chr3:53845272 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1435G>A (p.Val479Ile) single nucleotide variant not provided [RCV002000569] Chr3:53718345 [GRCh38]
Chr3:53752372 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_000720.4(CACNA1D):c.1493G>A (p.Arg498Gln) single nucleotide variant Inborn genetic diseases [RCV003269083]|not provided [RCV002038279] Chr3:53718696 [GRCh38]
Chr3:53752723 [GRCh37]
Chr3:3p21.1		 likely benign|uncertain significance
NM_001128840.3(CACNA1D):c.448C>T (p.Pro150Ser) single nucleotide variant not provided [RCV001982410] Chr3:53501685 [GRCh38]
Chr3:53535712 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4634T>G (p.Met1545Arg) single nucleotide variant not provided [RCV001939947] Chr3:53780072 [GRCh38]
Chr3:53814099 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3038G>A (p.Arg1013Gln) single nucleotide variant Sinoatrial node dysfunction and deafness [RCV002479545]|not provided [RCV001981502] Chr3:53745655 [GRCh38]
Chr3:53779682 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5611T>C (p.Tyr1871His) single nucleotide variant not provided [RCV001973471] Chr3:53805008 [GRCh38]
Chr3:53839035 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1780G>A (p.Val594Met) single nucleotide variant not provided [RCV001935887] Chr3:53723547 [GRCh38]
Chr3:53757574 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5901T>G (p.Ser1967Arg) single nucleotide variant not provided [RCV001996349] Chr3:53810007 [GRCh38]
Chr3:53844034 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6116C>A (p.Ala2039Asp) single nucleotide variant not provided [RCV001886979] Chr3:53810222 [GRCh38]
Chr3:53844249 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4113G>A (p.Met1371Ile) single nucleotide variant not provided [RCV001886926] Chr3:53774589 [GRCh38]
Chr3:53808616 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3699C>A (p.Phe1233Leu) single nucleotide variant not provided [RCV002038725] Chr3:53753595 [GRCh38]
Chr3:53787622 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3996G>C (p.Arg1332Ser) single nucleotide variant not provided [RCV001888335] Chr3:53770504 [GRCh38]
Chr3:53804531 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6478A>G (p.Thr2160Ala) single nucleotide variant not provided [RCV001943494] Chr3:53811398 [GRCh38]
Chr3:53845425 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3143C>G (p.Ala1048Gly) single nucleotide variant not provided [RCV002048905] Chr3:53745851 [GRCh38]
Chr3:53779878 [GRCh37]
Chr3:3p21.1		 uncertain significance
NC_000003.11:g.(?_53428720)_(53778854_?)del deletion not provided [RCV001916142] Chr3:53428720..53778854 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3454del (p.Ile1152fs) deletion not provided [RCV001954016] Chr3:53749407 [GRCh38]
Chr3:53783434 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2839A>G (p.Lys947Glu) single nucleotide variant not provided [RCV001934670] Chr3:53743038 [GRCh38]
Chr3:53777065 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2107A>G (p.Thr703Ala) single nucleotide variant not provided [RCV002000240] Chr3:53726885 [GRCh38]
Chr3:53760912 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4923+5A>C single nucleotide variant not provided [RCV001942999] Chr3:53786957 [GRCh38]
Chr3:53820984 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4083_4098dup (p.Ile1367fs) duplication not provided [RCV001959244] Chr3:53772870..53772871 [GRCh38]
Chr3:53806897..53806898 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.518C>T (p.Thr173Ile) single nucleotide variant not provided [RCV001955415] Chr3:53650813 [GRCh38]
Chr3:53684840 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2503G>A (p.Asp835Asn) single nucleotide variant not provided [RCV001921803] Chr3:53732844 [GRCh38]
Chr3:53766871 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6088G>A (p.Asp2030Asn) single nucleotide variant not provided [RCV001962816] Chr3:53810194 [GRCh38]
Chr3:53844221 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1306A>C (p.Lys436Gln) single nucleotide variant not provided [RCV002001113] Chr3:53702726 [GRCh38]
Chr3:53736753 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2546C>T (p.Ser849Leu) single nucleotide variant not provided [RCV001938666] Chr3:53732887 [GRCh38]
Chr3:53766914 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5114A>G (p.Asn1705Ser) single nucleotide variant not provided [RCV001954291] Chr3:53801131 [GRCh38]
Chr3:53835158 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5260A>C (p.Thr1754Pro) single nucleotide variant not provided [RCV001992401] Chr3:53801277 [GRCh38]
Chr3:53835304 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6157G>A (p.Asp2053Asn) single nucleotide variant Inborn genetic diseases [RCV002548863]|not provided [RCV002026818] Chr3:53810263 [GRCh38]
Chr3:53844290 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5414G>A (p.Arg1805His) single nucleotide variant not provided [RCV001901894] Chr3:53802152 [GRCh38]
Chr3:53836179 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2456C>T (p.Pro819Leu) single nucleotide variant not provided [RCV002012832] Chr3:53732065 [GRCh38]
Chr3:53766092 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2542A>C (p.Ile848Leu) single nucleotide variant not provided [RCV002027028] Chr3:53732883 [GRCh38]
Chr3:53766910 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5306G>A (p.Gly1769Glu) single nucleotide variant not provided [RCV001932511] Chr3:53801323 [GRCh38]
Chr3:53835350 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1033A>C (p.Thr345Pro) single nucleotide variant not provided [RCV002015017] Chr3:53666452 [GRCh38]
Chr3:53700479 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5971C>T (p.Arg1991Trp) single nucleotide variant not provided [RCV001992636] Chr3:53810077 [GRCh38]
Chr3:53844104 [GRCh37]
Chr3:3p21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000720.4(CACNA1D):c.1189G>C (p.Val397Leu) single nucleotide variant not provided [RCV001957051] Chr3:53673785 [GRCh38]
Chr3:53707812 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5557G>A (p.Glu1853Lys) single nucleotide variant Inborn genetic diseases [RCV003170520]|not provided [RCV002015659] Chr3:53803544 [GRCh38]
Chr3:53837571 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3028G>A (p.Val1010Met) single nucleotide variant not provided [RCV001937689] Chr3:53745645 [GRCh38]
Chr3:53779672 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2953G>A (p.Val985Ile) single nucleotide variant not provided [RCV001992616] Chr3:53744774 [GRCh38]
Chr3:53778801 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1450G>A (p.Glu484Lys) single nucleotide variant not provided [RCV001919622] Chr3:53718360 [GRCh38]
Chr3:53752387 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2079A>G (p.Gln693=) single nucleotide variant not provided [RCV002031618] Chr3:53723978 [GRCh38]
Chr3:53758005 [GRCh37]
Chr3:3p21.1		 likely benign|uncertain significance
NM_001128840.3(CACNA1D):c.2TGA[4] (p.Met5_Met7del) microsatellite not provided [RCV001992605] Chr3:53495166..53495174 [GRCh38]
Chr3:53529193..53529201 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6431C>A (p.Pro2144His) single nucleotide variant not provided [RCV002014455] Chr3:53811351 [GRCh38]
Chr3:53845378 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.149T>C (p.Val50Ala) single nucleotide variant Sinoatrial node dysfunction and deafness [RCV002479436]|not provided [RCV001916865] Chr3:53497233 [GRCh38]
Chr3:53531260 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2749A>G (p.Thr917Ala) single nucleotide variant not provided [RCV001974321] Chr3:53735501 [GRCh38]
Chr3:53769528 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3784A>G (p.Lys1262Glu) single nucleotide variant not provided [RCV001975628] Chr3:53753680 [GRCh38]
Chr3:53787707 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1750G>T (p.Val584Phe) single nucleotide variant not provided [RCV001866369] Chr3:53723517 [GRCh38]
Chr3:53757544 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6361C>T (p.Pro2121Ser) single nucleotide variant not provided [RCV001954618] Chr3:53811281 [GRCh38]
Chr3:53845308 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3908C>T (p.Thr1303Ile) single nucleotide variant not provided [RCV002032278] Chr3:53770010 [GRCh38]
Chr3:53804037 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5020G>A (p.Glu1674Lys) single nucleotide variant not provided [RCV001879171] Chr3:53800345 [GRCh38]
Chr3:53834372 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_000720.4(CACNA1D):c.1519T>G (p.Ser507Ala) single nucleotide variant not provided [RCV002009687] Chr3:53718722 [GRCh38]
Chr3:53752749 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2918A>G (p.Gln973Arg) single nucleotide variant not provided [RCV001978189] Chr3:53743117 [GRCh38]
Chr3:53777144 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5377C>T (p.Arg1793Trp) single nucleotide variant not provided [RCV001922028] Chr3:53801394 [GRCh38]
Chr3:53835421 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6062G>A (p.Arg2021His) single nucleotide variant Inborn genetic diseases [RCV002562194]|not provided [RCV001936646] Chr3:53810168 [GRCh38]
Chr3:53844195 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3596G>C (p.Trp1199Ser) single nucleotide variant not provided [RCV002046159] Chr3:53751828 [GRCh38]
Chr3:53785855 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3469G>A (p.Glu1157Lys) single nucleotide variant not provided [RCV001976017] Chr3:53749422 [GRCh38]
Chr3:53783449 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3874A>G (p.Thr1292Ala) single nucleotide variant not provided [RCV002015369] Chr3:53769976 [GRCh38]
Chr3:53804003 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5016AGA[3] (p.Glu1675del) microsatellite not provided [RCV001937383] Chr3:53800341..53800343 [GRCh38]
Chr3:53834368..53834370 [GRCh37]
Chr3:3p21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001128840.3(CACNA1D):c.4687G>A (p.Glu1563Lys) single nucleotide variant not provided [RCV001972318] Chr3:53780125 [GRCh38]
Chr3:53814152 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_000720.4(CACNA1D):c.1501G>A (p.Ala501Thr) single nucleotide variant Inborn genetic diseases [RCV002554168]|not provided [RCV001882089] Chr3:53718704 [GRCh38]
Chr3:53752731 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4475A>G (p.Tyr1492Cys) single nucleotide variant not provided [RCV001904207] Chr3:53776715 [GRCh38]
Chr3:53810742 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6341G>A (p.Arg2114Gln) single nucleotide variant not provided [RCV001974950] Chr3:53811261 [GRCh38]
Chr3:53845288 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5699A>G (p.Tyr1900Cys) single nucleotide variant not provided [RCV001901464] Chr3:53805096 [GRCh38]
Chr3:53839123 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2464G>A (p.Asp822Asn) single nucleotide variant not provided [RCV001978452] Chr3:53732073 [GRCh38]
Chr3:53766100 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2TGA[6] (p.Met7del) microsatellite not provided [RCV002034170] Chr3:53495166..53495168 [GRCh38]
Chr3:53529193..53529195 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3547C>T (p.Arg1183Cys) single nucleotide variant not provided [RCV001905094] Chr3:53751779 [GRCh38]
Chr3:53785806 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2112C>T (p.Gly704=) single nucleotide variant not provided [RCV001999289] Chr3:53726890 [GRCh38]
Chr3:53760917 [GRCh37]
Chr3:3p21.1		 likely benign|uncertain significance
NM_001128840.3(CACNA1D):c.5933C>T (p.Thr1978Ile) single nucleotide variant not provided [RCV001897749] Chr3:53810039 [GRCh38]
Chr3:53844066 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2743C>T (p.Arg915Trp) single nucleotide variant not provided [RCV001923848] Chr3:53735495 [GRCh38]
Chr3:53769522 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.372A>C (p.Glu124Asp) single nucleotide variant not provided [RCV001921429] Chr3:53497456 [GRCh38]
Chr3:53531483 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2181C>G (p.Ile727Met) single nucleotide variant not provided [RCV001956662] Chr3:53726959 [GRCh38]
Chr3:53760986 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5819C>G (p.Ser1940Cys) single nucleotide variant Inborn genetic diseases [RCV002552944]|not provided [RCV001905765] Chr3:53808718 [GRCh38]
Chr3:53842745 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3559A>G (p.Arg1187Gly) single nucleotide variant not provided [RCV001993715] Chr3:53751791 [GRCh38]
Chr3:53785818 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4111-8C>G single nucleotide variant not provided [RCV002020080] Chr3:53774579 [GRCh38]
Chr3:53808606 [GRCh37]
Chr3:3p21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001128840.3(CACNA1D):c.3870C>A (p.Asp1290Glu) single nucleotide variant not provided [RCV002016504] Chr3:53762081 [GRCh38]
Chr3:53796108 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4268_4269del (p.Pro1423fs) deletion not provided [RCV002036270] Chr3:53775951..53775952 [GRCh38]
Chr3:53809978..53809979 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5539A>G (p.Ser1847Gly) single nucleotide variant not provided [RCV002036284] Chr3:53803526 [GRCh38]
Chr3:53837553 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2608A>G (p.Ser870Gly) single nucleotide variant not provided [RCV001877965] Chr3:53732949 [GRCh38]
Chr3:53766976 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4898C>T (p.Ala1633Val) single nucleotide variant CACNA1D-related condition [RCV003892932]|Inborn genetic diseases [RCV002554251]|not provided [RCV001906074] Chr3:53786927 [GRCh38]
Chr3:53820954 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3786+5G>A single nucleotide variant not provided [RCV002012333] Chr3:53753687 [GRCh38]
Chr3:53787714 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1379G>A (p.Gly460Asp) single nucleotide variant not provided [RCV001906100] Chr3:53702799 [GRCh38]
Chr3:53736826 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3726G>T (p.Met1242Ile) single nucleotide variant not provided [RCV001940595] Chr3:53753622 [GRCh38]
Chr3:53787649 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6159C>G (p.Asp2053Glu) single nucleotide variant not provided [RCV001899954] Chr3:53810265 [GRCh38]
Chr3:53844292 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3011T>C (p.Val1004Ala) single nucleotide variant not provided [RCV002028946] Chr3:53745628 [GRCh38]
Chr3:53779655 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1943A>G (p.Lys648Arg) single nucleotide variant not provided [RCV002051412] Chr3:53723842 [GRCh38]
Chr3:53757869 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.265G>A (p.Ala89Thr) single nucleotide variant not provided [RCV001938892] Chr3:53497349 [GRCh38]
Chr3:53531376 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1805C>T (p.Thr602Met) single nucleotide variant not provided [RCV001980991] Chr3:53723572 [GRCh38]
Chr3:53757599 [GRCh37]
Chr3:3p21.1		 uncertain significance
NC_000003.11:g.(?_53529194)_(53707863_?)dup duplication not provided [RCV001916143] Chr3:53529194..53707863 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5956G>T (p.Ala1986Ser) single nucleotide variant not provided [RCV002049007] Chr3:53810062 [GRCh38]
Chr3:53844089 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3271A>G (p.Met1091Val) single nucleotide variant not provided [RCV001977422] Chr3:53747405 [GRCh38]
Chr3:53781432 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3134C>T (p.Thr1045Met) single nucleotide variant not provided [RCV001905026] Chr3:53745842 [GRCh38]
Chr3:53779869 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2819C>G (p.Thr940Ser) single nucleotide variant not provided [RCV001922207] Chr3:53743018 [GRCh38]
Chr3:53777045 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4685C>T (p.Thr1562Ile) single nucleotide variant not provided [RCV001921333] Chr3:53780123 [GRCh38]
Chr3:53814150 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2146A>G (p.Met716Val) single nucleotide variant Sinoatrial node dysfunction and deafness [RCV002484523]|not provided [RCV001938334] Chr3:53726924 [GRCh38]
Chr3:53760951 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5930C>T (p.Ser1977Leu) single nucleotide variant not provided [RCV001931026] Chr3:53810036 [GRCh38]
Chr3:53844063 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1892+3A>G single nucleotide variant CACNA1D-related condition [RCV003913451]|not provided [RCV001923579] Chr3:53723662 [GRCh38]
Chr3:53757689 [GRCh37]
Chr3:3p21.1		 likely benign|uncertain significance
NM_001128840.3(CACNA1D):c.378-5T>G single nucleotide variant not provided [RCV001981752] Chr3:53501610 [GRCh38]
Chr3:53535637 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3397A>G (p.Ile1133Val) single nucleotide variant not provided [RCV001981957] Chr3:53749350 [GRCh38]
Chr3:53783377 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3865G>A (p.Ala1289Thr) single nucleotide variant CACNA1D-related condition [RCV003893028]|not provided [RCV001959333] Chr3:53762076 [GRCh38]
Chr3:53796103 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1535A>G (p.Asn512Ser) single nucleotide variant not provided [RCV001980611] Chr3:53722343 [GRCh38]
Chr3:53756370 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4964G>A (p.Arg1655Gln) single nucleotide variant not provided [RCV001980122] Chr3:53800289 [GRCh38]
Chr3:53834316 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1517G>A (p.Arg506His) single nucleotide variant not provided [RCV001906386] Chr3:53722325 [GRCh38]
Chr3:53756352 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1618A>G (p.Ile540Val) single nucleotide variant CACNA1D-related condition [RCV003956436]|not provided [RCV001884513] Chr3:53722426 [GRCh38]
Chr3:53756453 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3860G>A (p.Ser1287Asn) single nucleotide variant not provided [RCV002035123] Chr3:53762071 [GRCh38]
Chr3:53796098 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2407-34C>A single nucleotide variant not provided [RCV002034824] Chr3:53731982 [GRCh38]
Chr3:53766009 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5914T>C (p.Tyr1972His) single nucleotide variant not provided [RCV001926091] Chr3:53810020 [GRCh38]
Chr3:53844047 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6076A>G (p.Thr2026Ala) single nucleotide variant Sinoatrial node dysfunction and deafness [RCV002490229]|not provided [RCV001906678] Chr3:53810182 [GRCh38]
Chr3:53844209 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5568C>A (p.Ser1856Arg) single nucleotide variant not provided [RCV002029636] Chr3:53803555 [GRCh38]
Chr3:53837582 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6154A>G (p.Ser2052Gly) single nucleotide variant not provided [RCV001973832] Chr3:53810260 [GRCh38]
Chr3:53844287 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4131G>A (p.Met1377Ile) single nucleotide variant not provided [RCV001976559] Chr3:53774607 [GRCh38]
Chr3:53808634 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5939C>T (p.Ser1980Leu) single nucleotide variant not provided [RCV001879112] Chr3:53810045 [GRCh38]
Chr3:53844072 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5984C>T (p.Pro1995Leu) single nucleotide variant not provided [RCV001915800] Chr3:53810090 [GRCh38]
Chr3:53844117 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.558G>C (p.Leu186Phe) single nucleotide variant not provided [RCV001992691] Chr3:53650853 [GRCh38]
Chr3:53684880 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2343G>C (p.Glu781Asp) single nucleotide variant not provided [RCV002014236] Chr3:53731083 [GRCh38]
Chr3:53765110 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2210T>C (p.Ile737Thr) single nucleotide variant not provided [RCV001935975] Chr3:53726988 [GRCh38]
Chr3:53761015 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2091_2092del (p.Phe699fs) deletion not provided [RCV001875438] Chr3:53723990..53723991 [GRCh38]
Chr3:53758017..53758018 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6250A>G (p.Thr2084Ala) single nucleotide variant not provided [RCV002047282] Chr3:53811170 [GRCh38]
Chr3:53845197 [GRCh37]
Chr3:3p21.1		 likely benign|uncertain significance
NM_001128840.3(CACNA1D):c.2395A>C (p.Ser799Arg) single nucleotide variant not provided [RCV002031882] Chr3:53731135 [GRCh38]
Chr3:53765162 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3601G>A (p.Val1201Met) single nucleotide variant not provided [RCV001972042] Chr3:53751833 [GRCh38]
Chr3:53785860 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2995A>C (p.Lys999Gln) single nucleotide variant not provided [RCV002016544] Chr3:53744816 [GRCh38]
Chr3:53778843 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1438A>G (p.Ser480Gly) single nucleotide variant not provided [RCV002033137] Chr3:53718348 [GRCh38]
Chr3:53752375 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4426A>G (p.Ile1476Val) single nucleotide variant not provided [RCV001978926] Chr3:53776666 [GRCh38]
Chr3:53810693 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4710T>A (p.Asn1570Lys) single nucleotide variant not provided [RCV001977805] Chr3:53781585 [GRCh38]
Chr3:53815612 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1735C>T (p.Leu579Phe) single nucleotide variant not provided [RCV001917144] Chr3:53723502 [GRCh38]
Chr3:53757529 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1396A>G (p.Met466Val) single nucleotide variant not provided [RCV001867598] Chr3:53718306 [GRCh38]
Chr3:53752333 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_000720.4(CACNA1D):c.1528_1529delinsGT (p.Arg510Val) indel not provided [RCV001973610] Chr3:53718731..53718732 [GRCh38]
Chr3:53752758..53752759 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4695C>A (p.Asn1565Lys) single nucleotide variant not provided [RCV001938104] Chr3:53781570 [GRCh38]
Chr3:53815597 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4998G>T (p.Glu1666Asp) single nucleotide variant not provided [RCV002047573] Chr3:53800323 [GRCh38]
Chr3:53834350 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.847A>C (p.Ile283Leu) single nucleotide variant not provided [RCV001935487] Chr3:53665740 [GRCh38]
Chr3:53699767 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3114+17_3114+18inv inversion not provided [RCV002170131] Chr3:53745748..53745749 [GRCh38]
Chr3:53779775..53779776 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2752-8C>A single nucleotide variant not provided [RCV002107095] Chr3:53740272 [GRCh38]
Chr3:53774299 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3675+18C>T single nucleotide variant not provided [RCV002071408] Chr3:53751925 [GRCh38]
Chr3:53785952 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3372C>T (p.His1124=) single nucleotide variant not provided [RCV002187847] Chr3:53749325 [GRCh38]
Chr3:53783352 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2407-17_2407-16inv inversion not provided [RCV002166676] Chr3:53731999..53732000 [GRCh38]
Chr3:53766026..53766027 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2100+20C>T single nucleotide variant not provided [RCV002169704] Chr3:53724019 [GRCh38]
Chr3:53758046 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1666+19C>A single nucleotide variant not provided [RCV002072396] Chr3:53722493 [GRCh38]
Chr3:53756520 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.4691-15del deletion not provided [RCV002090906] Chr3:53781551 [GRCh38]
Chr3:53815578 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1478+289A>C single nucleotide variant not provided [RCV002087412] Chr3:53718677 [GRCh38]
Chr3:53752704 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4053G>A (p.Pro1351=) single nucleotide variant not provided [RCV002128378] Chr3:53772841 [GRCh38]
Chr3:53806868 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.920-18T>G single nucleotide variant not provided [RCV002208918] Chr3:53666321 [GRCh38]
Chr3:53700348 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.801C>T (p.Ala267=) single nucleotide variant not provided [RCV002192497] Chr3:53665694 [GRCh38]
Chr3:53699721 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3870+16G>T single nucleotide variant not provided [RCV002170023] Chr3:53762097 [GRCh38]
Chr3:53796124 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2355T>C (p.Asn785=) single nucleotide variant not provided [RCV002129138] Chr3:53731095 [GRCh38]
Chr3:53765122 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3167+7G>A single nucleotide variant not provided [RCV002185038] Chr3:53745882 [GRCh38]
Chr3:53779909 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4691-19T>G single nucleotide variant not provided [RCV002090541] Chr3:53781547 [GRCh38]
Chr3:53815574 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.228T>C (p.Pro76=) single nucleotide variant not provided [RCV002187861] Chr3:53497312 [GRCh38]
Chr3:53531339 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3801C>T (p.Asp1267=) single nucleotide variant not provided [RCV002092458] Chr3:53762012 [GRCh38]
Chr3:53796039 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4923+17T>C single nucleotide variant not provided [RCV002186888] Chr3:53786969 [GRCh38]
Chr3:53820996 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5997C>G (p.Pro1999=) single nucleotide variant not provided [RCV002186932] Chr3:53810103 [GRCh38]
Chr3:53844130 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.920-9T>C single nucleotide variant not provided [RCV002072395] Chr3:53666330 [GRCh38]
Chr3:53700357 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3738G>A (p.Gly1246=) single nucleotide variant not provided [RCV002209194] Chr3:53753634 [GRCh38]
Chr3:53787661 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2100+14C>G single nucleotide variant not provided [RCV002148952] Chr3:53724013 [GRCh38]
Chr3:53758040 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5436-13C>T single nucleotide variant not provided [RCV002187071] Chr3:53803410 [GRCh38]
Chr3:53837437 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4581G>A (p.Ala1527=) single nucleotide variant not provided [RCV002104636] Chr3:53776950 [GRCh38]
Chr3:53810977 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3600C>T (p.Tyr1200=) single nucleotide variant not provided [RCV002086316] Chr3:53751832 [GRCh38]
Chr3:53785859 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1390+9C>T single nucleotide variant not provided [RCV002106219] Chr3:53702819 [GRCh38]
Chr3:53736846 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1422G>A (p.Val474=) single nucleotide variant not provided [RCV002165850] Chr3:53718332 [GRCh38]
Chr3:53752359 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2235T>C (p.Asn745=) single nucleotide variant not provided [RCV002145913] Chr3:53730455 [GRCh38]
Chr3:53764482 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1220+706C>T single nucleotide variant not provided [RCV002206297] Chr3:53673832 [GRCh38]
Chr3:53707859 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4691-9del deletion not provided [RCV002124900] Chr3:53781552 [GRCh38]
Chr3:53815579 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.4980T>C (p.Cys1660=) single nucleotide variant not provided [RCV002192089] Chr3:53800305 [GRCh38]
Chr3:53834332 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4587+16G>A single nucleotide variant not provided [RCV002084980] Chr3:53776972 [GRCh38]
Chr3:53810999 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2221+19A>G single nucleotide variant not provided [RCV002170398] Chr3:53727018 [GRCh38]
Chr3:53761045 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2337-20C>T single nucleotide variant not provided [RCV002191639] Chr3:53731057 [GRCh38]
Chr3:53765084 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4491-14T>G single nucleotide variant not provided [RCV002188564] Chr3:53776846 [GRCh38]
Chr3:53810873 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.624-16C>G single nucleotide variant not provided [RCV002167472] Chr3:53660117 [GRCh38]
Chr3:53694144 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3813G>A (p.Thr1271=) single nucleotide variant not provided [RCV002075201] Chr3:53762024 [GRCh38]
Chr3:53796051 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5730A>G (p.Leu1910=) single nucleotide variant not provided [RCV002112715] Chr3:53805127 [GRCh38]
Chr3:53839154 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5472C>T (p.Cys1824=) single nucleotide variant not provided [RCV002087591] Chr3:53803459 [GRCh38]
Chr3:53837486 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4762T>C (p.Leu1588=) single nucleotide variant not provided [RCV002128407] Chr3:53781637 [GRCh38]
Chr3:53815664 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5985G>A (p.Pro1995=) single nucleotide variant not provided [RCV002128324] Chr3:53810091 [GRCh38]
Chr3:53844118 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4110+11G>T single nucleotide variant not provided [RCV002090248] Chr3:53772909 [GRCh38]
Chr3:53806936 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.369G>A (p.Val123=) single nucleotide variant not provided [RCV002190951] Chr3:53497453 [GRCh38]
Chr3:53531480 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4908C>T (p.Thr1636=) single nucleotide variant not provided [RCV002126865] Chr3:53786937 [GRCh38]
Chr3:53820964 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3354C>T (p.Ile1118=) single nucleotide variant not provided [RCV002191224] Chr3:53749307 [GRCh38]
Chr3:53783334 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4806C>T (p.Thr1602=) single nucleotide variant not provided [RCV002145775] Chr3:53786835 [GRCh38]
Chr3:53820862 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.6027G>A (p.Leu2009=) single nucleotide variant not provided [RCV002147189] Chr3:53810133 [GRCh38]
Chr3:53844160 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.67+18G>A single nucleotide variant not provided [RCV002124442] Chr3:53495251 [GRCh38]
Chr3:53529278 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2451C>T (p.Pro817=) single nucleotide variant not provided [RCV002207684] Chr3:53732060 [GRCh38]
Chr3:53766087 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4998G>A (p.Glu1666=) single nucleotide variant not provided [RCV002126362] Chr3:53800323 [GRCh38]
Chr3:53834350 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4203-9C>T single nucleotide variant not provided [RCV002147982] Chr3:53775877 [GRCh38]
Chr3:53809904 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5750-4C>G single nucleotide variant not provided [RCV002185202] Chr3:53808645 [GRCh38]
Chr3:53842672 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.67+10C>T single nucleotide variant not provided [RCV002129139] Chr3:53495243 [GRCh38]
Chr3:53529270 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3516+7G>A single nucleotide variant not provided [RCV002147448] Chr3:53749476 [GRCh38]
Chr3:53783503 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3009C>T (p.His1003=) single nucleotide variant not provided [RCV002091243] Chr3:53745626 [GRCh38]
Chr3:53779653 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.537G>A (p.Lys179=) single nucleotide variant not provided [RCV002191250] Chr3:53650832 [GRCh38]
Chr3:53684859 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1478+280G>T single nucleotide variant not provided [RCV002189913] Chr3:53718668 [GRCh38]
Chr3:53752695 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3676-18C>T single nucleotide variant not provided [RCV002206758] Chr3:53753554 [GRCh38]
Chr3:53787581 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3870+35C>T single nucleotide variant not provided [RCV002226003] Chr3:53762116 [GRCh38]
Chr3:53796143 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3555G>A (p.Leu1185=) single nucleotide variant not provided [RCV002108525] Chr3:53751787 [GRCh38]
Chr3:53785814 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5913G>A (p.Lys1971=) single nucleotide variant not provided [RCV002167523] Chr3:53810019 [GRCh38]
Chr3:53844046 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3517-8T>C single nucleotide variant not provided [RCV002071522] Chr3:53751741 [GRCh38]
Chr3:53785768 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1950C>T (p.Ile650=) single nucleotide variant not provided [RCV002187681] Chr3:53723849 [GRCh38]
Chr3:53757876 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3933T>C (p.Asn1311=) single nucleotide variant not provided [RCV002187809] Chr3:53770441 [GRCh38]
Chr3:53804468 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2621+12C>T single nucleotide variant not provided [RCV002208357] Chr3:53732974 [GRCh38]
Chr3:53767001 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3771C>T (p.Ile1257=) single nucleotide variant not provided [RCV002092228] Chr3:53753667 [GRCh38]
Chr3:53787694 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.6060C>T (p.His2020=) single nucleotide variant not provided [RCV002111309] Chr3:53810166 [GRCh38]
Chr3:53844193 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1478+360G>T single nucleotide variant not provided [RCV002205856] Chr3:53718748 [GRCh38]
Chr3:53752775 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3060C>T (p.Ile1020=) single nucleotide variant not provided [RCV002125825] Chr3:53745677 [GRCh38]
Chr3:53779704 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1248A>G (p.Ala416=) single nucleotide variant not provided [RCV002192387] Chr3:53702668 [GRCh38]
Chr3:53736695 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5958A>G (p.Ala1986=) single nucleotide variant not provided [RCV002085508] Chr3:53810064 [GRCh38]
Chr3:53844091 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4101T>C (p.Ile1367=) single nucleotide variant not provided [RCV002124513] Chr3:53772889 [GRCh38]
Chr3:53806916 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1478+14G>A single nucleotide variant not provided [RCV002153503] Chr3:53718402 [GRCh38]
Chr3:53752429 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4363-14A>G single nucleotide variant not provided [RCV002090921] Chr3:53776589 [GRCh38]
Chr3:53810616 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4691-17T>C single nucleotide variant not provided [RCV002078491] Chr3:53781549 [GRCh38]
Chr3:53815576 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5040+14G>A single nucleotide variant not provided [RCV002195773] Chr3:53800379 [GRCh38]
Chr3:53834406 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.546G>A (p.Ala182=) single nucleotide variant not provided [RCV002151204] Chr3:53650841 [GRCh38]
Chr3:53684868 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.6198G>A (p.Leu2066=) single nucleotide variant not provided [RCV002165554] Chr3:53811118 [GRCh38]
Chr3:53845145 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4587+17C>T single nucleotide variant not provided [RCV002134543] Chr3:53776973 [GRCh38]
Chr3:53811000 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1478+363T>C single nucleotide variant not provided [RCV002077920] Chr3:53718751 [GRCh38]
Chr3:53752778 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1572G>A (p.Thr524=) single nucleotide variant CACNA1D-related condition [RCV003923524]|not provided [RCV002205272] Chr3:53722380 [GRCh38]
Chr3:53756407 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.623+14A>T single nucleotide variant not provided [RCV002189829] Chr3:53650932 [GRCh38]
Chr3:53684959 [GRCh37]
Chr3:3p21.1		 likely benign
NM_000720.4(CACNA1D):c.1152G>A (p.Val384=) single nucleotide variant CACNA1D-related condition [RCV003916352]|not provided [RCV002174456] Chr3:53673748 [GRCh38]
Chr3:53707775 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2184C>T (p.Val728=) single nucleotide variant not provided [RCV002197460] Chr3:53726962 [GRCh38]
Chr3:53760989 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5585+18C>T single nucleotide variant not provided [RCV002131181] Chr3:53803590 [GRCh38]
Chr3:53837617 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4374G>C (p.Leu1458=) single nucleotide variant not provided [RCV002170962] Chr3:53776614 [GRCh38]
Chr3:53810641 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2457G>A (p.Pro819=) single nucleotide variant not provided [RCV002127776] Chr3:53732066 [GRCh38]
Chr3:53766093 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.630T>C (p.Phe210=) single nucleotide variant not provided [RCV002093872] Chr3:53660139 [GRCh38]
Chr3:53694166 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4110+14A>G single nucleotide variant not provided [RCV002114891] Chr3:53772912 [GRCh38]
Chr3:53806939 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.6192+20G>A single nucleotide variant not provided [RCV002114590] Chr3:53810318 [GRCh38]
Chr3:53844345 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4899G>A (p.Ala1633=) single nucleotide variant not provided [RCV002195156] Chr3:53786928 [GRCh38]
Chr3:53820955 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4546C>T (p.Leu1516=) single nucleotide variant not provided [RCV002115345] Chr3:53776915 [GRCh38]
Chr3:53810942 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1683C>T (p.Val561=) single nucleotide variant not provided [RCV002134561] Chr3:53723450 [GRCh38]
Chr3:53757477 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2550G>A (p.Glu850=) single nucleotide variant not provided [RCV002197185] Chr3:53732891 [GRCh38]
Chr3:53766918 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4365C>T (p.Ile1455=) single nucleotide variant not provided [RCV002092753] Chr3:53776605 [GRCh38]
Chr3:53810632 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2473+18G>A single nucleotide variant not provided [RCV002126443] Chr3:53732100 [GRCh38]
Chr3:53766127 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1478+9G>A single nucleotide variant not provided [RCV002175043] Chr3:53718397 [GRCh38]
Chr3:53752424 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4793-7C>T single nucleotide variant not provided [RCV002108140] Chr3:53786815 [GRCh38]
Chr3:53820842 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4977G>T (p.Ser1659=) single nucleotide variant not provided [RCV002145035] Chr3:53800302 [GRCh38]
Chr3:53834329 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1815G>T (p.Val605=) single nucleotide variant not provided [RCV002169741] Chr3:53723582 [GRCh38]
Chr3:53757609 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3351C>T (p.Asn1117=) single nucleotide variant not provided [RCV002197314] Chr3:53749304 [GRCh38]
Chr3:53783331 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3676-19C>A single nucleotide variant not provided [RCV002195476] Chr3:53753553 [GRCh38]
Chr3:53787580 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.1479-19C>T single nucleotide variant Sinoatrial node dysfunction and deafness [RCV002508057]|not provided [RCV002078923] Chr3:53719736 [GRCh38]
Chr3:53753763 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5940G>A (p.Ser1980=) single nucleotide variant not provided [RCV002171106] Chr3:53810046 [GRCh38]
Chr3:53844073 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1220+701G>A single nucleotide variant not provided [RCV002133647] Chr3:53673827 [GRCh38]
Chr3:53707854 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1767G>A (p.Arg589=) single nucleotide variant not provided [RCV002216327] Chr3:53723534 [GRCh38]
Chr3:53757561 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2751+14G>A single nucleotide variant not provided [RCV002151110] Chr3:53735517 [GRCh38]
Chr3:53769544 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3027C>T (p.Phe1009=) single nucleotide variant not provided [RCV002193804] Chr3:53745644 [GRCh38]
Chr3:53779671 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3915+19C>T single nucleotide variant not provided [RCV002193116] Chr3:53770036 [GRCh38]
Chr3:53804063 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3684G>A (p.Glu1228=) single nucleotide variant not provided [RCV002170639] Chr3:53753580 [GRCh38]
Chr3:53787607 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2221+15G>A single nucleotide variant not provided [RCV002195865] Chr3:53727014 [GRCh38]
Chr3:53761041 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.623+10T>C single nucleotide variant not provided [RCV002110634] Chr3:53650928 [GRCh38]
Chr3:53684955 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2259C>T (p.Asp753=) single nucleotide variant not provided [RCV002132631] Chr3:53730479 [GRCh38]
Chr3:53764506 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2136C>T (p.Tyr712=) single nucleotide variant not provided [RCV002195682] Chr3:53726914 [GRCh38]
Chr3:53760941 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2812-360A>G single nucleotide variant not provided [RCV002115729] Chr3:53742651 [GRCh38]
Chr3:53776678 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.1434C>T (p.Asn478=) single nucleotide variant not provided [RCV002152659] Chr3:53718344 [GRCh38]
Chr3:53752371 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4110+11G>A single nucleotide variant not provided [RCV002196446] Chr3:53772909 [GRCh38]
Chr3:53806936 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3870+18G>A single nucleotide variant not provided [RCV002145885] Chr3:53762099 [GRCh38]
Chr3:53796126 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.624-16C>T single nucleotide variant not provided [RCV002147288] Chr3:53660117 [GRCh38]
Chr3:53694144 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5436-17C>T single nucleotide variant not provided [RCV002153479] Chr3:53803406 [GRCh38]
Chr3:53837433 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.462T>A (p.Ser154=) single nucleotide variant not provided [RCV002205147] Chr3:53501699 [GRCh38]
Chr3:53535726 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.129G>A (p.Pro43=) single nucleotide variant not provided [RCV002092611] Chr3:53497213 [GRCh38]
Chr3:53531240 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5532G>A (p.Glu1844=) single nucleotide variant not provided [RCV002172274] Chr3:53803519 [GRCh38]
Chr3:53837546 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2790T>C (p.Phe930=) single nucleotide variant not provided [RCV002106595] Chr3:53740318 [GRCh38]
Chr3:53774345 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.925G>A (p.Val309Ile) single nucleotide variant not provided [RCV002192890] Chr3:53666344 [GRCh38]
Chr3:53700371 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1299G>A (p.Glu433=) single nucleotide variant not provided [RCV002115238] Chr3:53702719 [GRCh38]
Chr3:53736746 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3114+14C>T single nucleotide variant not provided [RCV002195624] Chr3:53745745 [GRCh38]
Chr3:53779772 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2829T>G (p.Ala943=) single nucleotide variant not provided [RCV002104581] Chr3:53743028 [GRCh38]
Chr3:53777055 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2752-16A>G single nucleotide variant not provided [RCV002089861] Chr3:53740264 [GRCh38]
Chr3:53774291 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.623+18T>C single nucleotide variant not provided [RCV002114625] Chr3:53650936 [GRCh38]
Chr3:53684963 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.767-17T>A single nucleotide variant not provided [RCV002114626] Chr3:53665643 [GRCh38]
Chr3:53699670 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4506C>T (p.His1502=) single nucleotide variant not provided [RCV002173367] Chr3:53776875 [GRCh38]
Chr3:53810902 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2862C>T (p.Tyr954=) single nucleotide variant not provided [RCV002194389] Chr3:53743061 [GRCh38]
Chr3:53777088 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3849C>T (p.Asp1283=) single nucleotide variant not provided [RCV002094278] Chr3:53762060 [GRCh38]
Chr3:53796087 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5871+18C>T single nucleotide variant not provided [RCV002133602] Chr3:53808788 [GRCh38]
Chr3:53842815 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3915+7T>A single nucleotide variant not provided [RCV002213362] Chr3:53770024 [GRCh38]
Chr3:53804051 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4491-18A>G single nucleotide variant not provided [RCV002211509] Chr3:53776842 [GRCh38]
Chr3:53810869 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5685C>T (p.Asp1895=) single nucleotide variant CACNA1D-related condition [RCV003913678]|not provided [RCV002112965] Chr3:53805082 [GRCh38]
Chr3:53839109 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1116+8C>T single nucleotide variant not provided [RCV002078053] Chr3:53666543 [GRCh38]
Chr3:53700570 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3507C>T (p.Asp1169=) single nucleotide variant not provided [RCV002134541] Chr3:53749460 [GRCh38]
Chr3:53783487 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4587+18G>A single nucleotide variant not provided [RCV002194452] Chr3:53776974 [GRCh38]
Chr3:53811001 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3564C>T (p.Tyr1188=) single nucleotide variant not provided [RCV002173317] Chr3:53751796 [GRCh38]
Chr3:53785823 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2622-16C>T single nucleotide variant not provided [RCV002173860] Chr3:53735358 [GRCh38]
Chr3:53769385 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2751+19G>T single nucleotide variant not provided [RCV002131401] Chr3:53735522 [GRCh38]
Chr3:53769549 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3735C>T (p.Thr1245=) single nucleotide variant not provided [RCV002215646] Chr3:53753631 [GRCh38]
Chr3:53787658 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.6438G>A (p.Arg2146=) single nucleotide variant not provided [RCV002076769] Chr3:53811358 [GRCh38]
Chr3:53845385 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4197C>T (p.Leu1399=) single nucleotide variant not provided [RCV002195133] Chr3:53774673 [GRCh38]
Chr3:53808700 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2336+9A>G single nucleotide variant not provided [RCV002174525] Chr3:53730565 [GRCh38]
Chr3:53764592 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.684C>T (p.Ser228=) single nucleotide variant not provided [RCV002112141] Chr3:53660193 [GRCh38]
Chr3:53694220 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1893-4A>G single nucleotide variant not provided [RCV002171412] Chr3:53723788 [GRCh38]
Chr3:53757815 [GRCh37]
Chr3:3p21.1		 likely benign
NM_000720.4(CACNA1D):c.1128G>A (p.Ala376=) single nucleotide variant not provided [RCV002172670] Chr3:53673724 [GRCh38]
Chr3:53707751 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5436-11C>T single nucleotide variant not provided [RCV002113827] Chr3:53803412 [GRCh38]
Chr3:53837439 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3516+14A>G single nucleotide variant not provided [RCV002150861] Chr3:53749483 [GRCh38]
Chr3:53783510 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.483+17T>A single nucleotide variant not provided [RCV002150870] Chr3:53501737 [GRCh38]
Chr3:53535764 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4173G>A (p.Thr1391=) single nucleotide variant not provided [RCV002150240] Chr3:53774649 [GRCh38]
Chr3:53808676 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.762G>A (p.Val254=) single nucleotide variant not provided [RCV002185849] Chr3:53660271 [GRCh38]
Chr3:53694298 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2752-18A>G single nucleotide variant not provided [RCV002167034] Chr3:53740262 [GRCh38]
Chr3:53774289 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2694G>A (p.Leu898=) single nucleotide variant not provided [RCV002197830] Chr3:53735446 [GRCh38]
Chr3:53769473 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.312C>T (p.Arg104=) single nucleotide variant not provided [RCV002119372] Chr3:53497396 [GRCh38]
Chr3:53531423 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3252C>T (p.Phe1084=) single nucleotide variant CACNA1D-related condition [RCV003923650]|not provided [RCV002117924] Chr3:53747386 [GRCh38]
Chr3:53781413 [GRCh37]
Chr3:3p21.1		 benign|likely benign
NM_001128840.3(CACNA1D):c.1478+11G>A single nucleotide variant not provided [RCV002121643] Chr3:53718399 [GRCh38]
Chr3:53752426 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.6249A>T (p.Ala2083=) single nucleotide variant not provided [RCV002139921] Chr3:53811169 [GRCh38]
Chr3:53845196 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1892+17C>T single nucleotide variant not provided [RCV002118469] Chr3:53723676 [GRCh38]
Chr3:53757703 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2621+15del deletion not provided [RCV002204401] Chr3:53732976 [GRCh38]
Chr3:53767003 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4110+18C>T single nucleotide variant not provided [RCV002176305] Chr3:53772916 [GRCh38]
Chr3:53806943 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1479-18T>G single nucleotide variant not provided [RCV002182058] Chr3:53719737 [GRCh38]
Chr3:53753764 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3486G>A (p.Glu1162=) single nucleotide variant not provided [RCV002160829] Chr3:53749439 [GRCh38]
Chr3:53783466 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2473+10C>T single nucleotide variant not provided [RCV002101019] Chr3:53732092 [GRCh38]
Chr3:53766119 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4722G>A (p.Arg1574=) single nucleotide variant not provided [RCV002158818] Chr3:53781597 [GRCh38]
Chr3:53815624 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5352G>C (p.Gly1784=) single nucleotide variant not provided [RCV002202661] Chr3:53801369 [GRCh38]
Chr3:53835396 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4110+19G>C single nucleotide variant not provided [RCV002180642] Chr3:53772917 [GRCh38]
Chr3:53806944 [GRCh37]
Chr3:3p21.1		 benign|likely benign
NM_001128840.3(CACNA1D):c.5139C>T (p.Val1713=) single nucleotide variant not provided [RCV002201543] Chr3:53801156 [GRCh38]
Chr3:53835183 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3834C>T (p.Ile1278=) single nucleotide variant not provided [RCV002144490] Chr3:53762045 [GRCh38]
Chr3:53796072 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1391-15G>A single nucleotide variant not provided [RCV002135478] Chr3:53718286 [GRCh38]
Chr3:53752313 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4202+11C>T single nucleotide variant not provided [RCV002159938] Chr3:53774689 [GRCh38]
Chr3:53808716 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3006+10C>T single nucleotide variant not provided [RCV002203765] Chr3:53744837 [GRCh38]
Chr3:53778864 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.546G>T (p.Ala182=) single nucleotide variant not provided [RCV002182917] Chr3:53650841 [GRCh38]
Chr3:53684868 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.330A>G (p.Ser110=) single nucleotide variant not provided [RCV002216715] Chr3:53497414 [GRCh38]
Chr3:53531441 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.237T>G (p.Ser79=) single nucleotide variant not provided [RCV002160078] Chr3:53497321 [GRCh38]
Chr3:53531348 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2473+8G>C single nucleotide variant not provided [RCV002154226] Chr3:53732090 [GRCh38]
Chr3:53766117 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2812-14G>T single nucleotide variant not provided [RCV002154227]|not specified [RCV002222760] Chr3:53742997 [GRCh38]
Chr3:53777024 [GRCh37]
Chr3:3p21.1		 likely benign|uncertain significance
NM_001128840.3(CACNA1D):c.789C>G (p.Ser263=) single nucleotide variant not provided [RCV002143125] Chr3:53665682 [GRCh38]
Chr3:53699709 [GRCh37]
Chr3:3p21.1		 likely benign|conflicting interpretations of pathogenicity
NM_001128840.3(CACNA1D):c.3417A>G (p.Val1139=) single nucleotide variant not provided [RCV002139662] Chr3:53749370 [GRCh38]
Chr3:53783397 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2812-16A>C single nucleotide variant not provided [RCV002083964] Chr3:53742995 [GRCh38]
Chr3:53777022 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5181G>A (p.Pro1727=) single nucleotide variant not provided [RCV002163887] Chr3:53801198 [GRCh38]
Chr3:53835225 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3789G>A (p.Gly1263=) single nucleotide variant not provided [RCV002154776] Chr3:53762000 [GRCh38]
Chr3:53796027 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2934C>T (p.Ser978=) single nucleotide variant not provided [RCV002143855] Chr3:53744755 [GRCh38]
Chr3:53778782 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5749+15T>C single nucleotide variant not provided [RCV002164222] Chr3:53805161 [GRCh38]
Chr3:53839188 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3314+20A>G single nucleotide variant not provided [RCV002198971] Chr3:53747468 [GRCh38]
Chr3:53781495 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3676-4A>G single nucleotide variant Inborn genetic diseases [RCV003006982]|not provided [RCV002219738] Chr3:53753568 [GRCh38]
Chr3:53787595 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4111-11T>A single nucleotide variant not provided [RCV002203047] Chr3:53774576 [GRCh38]
Chr3:53808603 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4362+8A>C single nucleotide variant not provided [RCV002157584] Chr3:53776053 [GRCh38]
Chr3:53810080 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.531T>C (p.Phe177=) single nucleotide variant not provided [RCV002155594] Chr3:53650826 [GRCh38]
Chr3:53684853 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4512T>C (p.Asp1504=) single nucleotide variant not provided [RCV002160794] Chr3:53776881 [GRCh38]
Chr3:53810908 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1667-18G>A single nucleotide variant not provided [RCV002119343] Chr3:53723416 [GRCh38]
Chr3:53757443 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.766+18_766+20del deletion not provided [RCV002122709] Chr3:53660292..53660294 [GRCh38]
Chr3:53694319..53694321 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.4924-18C>T single nucleotide variant not provided [RCV002177257] Chr3:53800231 [GRCh38]
Chr3:53834258 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5040+13C>T single nucleotide variant not provided [RCV002154164] Chr3:53800378 [GRCh38]
Chr3:53834405 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4617C>T (p.Asn1539=) single nucleotide variant not provided [RCV002180592] Chr3:53780055 [GRCh38]
Chr3:53814082 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5325G>A (p.Gly1775=) single nucleotide variant not provided [RCV002121460] Chr3:53801342 [GRCh38]
Chr3:53835369 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4111-19T>C single nucleotide variant not provided [RCV002154345] Chr3:53774568 [GRCh38]
Chr3:53808595 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3180C>T (p.Ile1060=) single nucleotide variant not provided [RCV002218873] Chr3:53747314 [GRCh38]
Chr3:53781341 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4320C>T (p.Ala1440=) single nucleotide variant not provided [RCV002135952] Chr3:53776003 [GRCh38]
Chr3:53810030 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4458A>G (p.Lys1486=) single nucleotide variant not provided [RCV002217066] Chr3:53776698 [GRCh38]
Chr3:53810725 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3870+17C>T single nucleotide variant not provided [RCV002198380] Chr3:53762098 [GRCh38]
Chr3:53796125 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1806G>T (p.Thr602=) single nucleotide variant not provided [RCV002154567] Chr3:53723573 [GRCh38]
Chr3:53757600 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2752-13T>C single nucleotide variant not provided [RCV002200708] Chr3:53740267 [GRCh38]
Chr3:53774294 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4491-17T>C single nucleotide variant not provided [RCV002084365] Chr3:53776843 [GRCh38]
Chr3:53810870 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1236A>G (p.Glu412=) single nucleotide variant not provided [RCV002162017] Chr3:53702656 [GRCh38]
Chr3:53736683 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1478+280G>A single nucleotide variant not provided [RCV002181534] Chr3:53718668 [GRCh38]
Chr3:53752695 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.291G>T (p.Ser97=) single nucleotide variant not provided [RCV002143457] Chr3:53497375 [GRCh38]
Chr3:53531402 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3339G>A (p.Ser1113=) single nucleotide variant not provided [RCV002219765] Chr3:53749292 [GRCh38]
Chr3:53783319 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5679C>T (p.Asp1893=) single nucleotide variant not provided [RCV002162320] Chr3:53805076 [GRCh38]
Chr3:53839103 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3516+15C>T single nucleotide variant not provided [RCV002082787] Chr3:53749484 [GRCh38]
Chr3:53783511 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1386A>C (p.Arg462=) single nucleotide variant not provided [RCV002178767] Chr3:53702806 [GRCh38]
Chr3:53736833 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4785A>G (p.Pro1595=) single nucleotide variant not provided [RCV002184856] Chr3:53781660 [GRCh38]
Chr3:53815687 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3999G>C (p.Gly1333=) single nucleotide variant not provided [RCV002203009] Chr3:53770507 [GRCh38]
Chr3:53804534 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5757G>A (p.Arg1919=) single nucleotide variant not provided [RCV002159605] Chr3:53808656 [GRCh38]
Chr3:53842683 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5041-4G>A single nucleotide variant not provided [RCV002183121] Chr3:53801054 [GRCh38]
Chr3:53835081 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.645A>G (p.Glu215=) single nucleotide variant not provided [RCV002157957] Chr3:53660154 [GRCh38]
Chr3:53694181 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1479-15T>G single nucleotide variant not provided [RCV002159496] Chr3:53719740 [GRCh38]
Chr3:53753767 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2034T>C (p.Phe678=) single nucleotide variant not provided [RCV002175567] Chr3:53723933 [GRCh38]
Chr3:53757960 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.546G>C (p.Ala182=) single nucleotide variant not provided [RCV002157973] Chr3:53650841 [GRCh38]
Chr3:53684868 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3750C>T (p.Val1250=) single nucleotide variant not provided [RCV002104151] Chr3:53753646 [GRCh38]
Chr3:53787673 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.919+14A>G single nucleotide variant not provided [RCV002159978] Chr3:53665826 [GRCh38]
Chr3:53699853 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.623+12T>C single nucleotide variant not provided [RCV002136133] Chr3:53650930 [GRCh38]
Chr3:53684957 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3115-9T>C single nucleotide variant not provided [RCV002123934] Chr3:53745814 [GRCh38]
Chr3:53779841 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.294C>T (p.Ser98=) single nucleotide variant not provided [RCV002162470] Chr3:53497378 [GRCh38]
Chr3:53531405 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4740T>C (p.Ile1580=) single nucleotide variant not provided [RCV002181793] Chr3:53781615 [GRCh38]
Chr3:53815642 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2628C>T (p.Arg876=) single nucleotide variant not provided [RCV002158710] Chr3:53735380 [GRCh38]
Chr3:53769407 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2316G>A (p.Lys772=) single nucleotide variant not provided [RCV002160288] Chr3:53730536 [GRCh38]
Chr3:53764563 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.767-12del deletion not provided [RCV002219568] Chr3:53665640 [GRCh38]
Chr3:53699667 [GRCh37]
Chr3:3p21.1		 benign
NM_000720.4(CACNA1D):c.1503G>A (p.Ala501=) single nucleotide variant not provided [RCV002084403] Chr3:53718706 [GRCh38]
Chr3:53752733 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2473+16C>G single nucleotide variant not provided [RCV002184204] Chr3:53732098 [GRCh38]
Chr3:53766125 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4623C>T (p.Asp1541=) single nucleotide variant not provided [RCV002218028] Chr3:53780061 [GRCh38]
Chr3:53814088 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5733A>G (p.Leu1911=) single nucleotide variant not provided [RCV002199080] Chr3:53805130 [GRCh38]
Chr3:53839157 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4434G>A (p.Gly1478=) single nucleotide variant not provided [RCV002218111] Chr3:53776674 [GRCh38]
Chr3:53810701 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1505+17T>G single nucleotide variant not provided [RCV002178784] Chr3:53719798 [GRCh38]
Chr3:53753825 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3314+1G>A single nucleotide variant not provided [RCV003109951] Chr3:53747449 [GRCh38]
Chr3:53781476 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1441G>A (p.Gly481Ser) single nucleotide variant not provided [RCV003110716] Chr3:53718351 [GRCh38]
Chr3:53752378 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5755C>T (p.Arg1919Trp) single nucleotide variant not provided [RCV003113078] Chr3:53808654 [GRCh38]
Chr3:53842681 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6330C>T (p.Asn2110=) single nucleotide variant not provided [RCV003114164] Chr3:53811250 [GRCh38]
Chr3:53845277 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2774C>T (p.Ala925Val) single nucleotide variant not provided [RCV003114823] Chr3:53740302 [GRCh38]
Chr3:53774329 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5922G>A (p.Pro1974=) single nucleotide variant not provided [RCV003121072] Chr3:53810028 [GRCh38]
Chr3:53844055 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5098T>G (p.Ser1700Ala) single nucleotide variant Aldosterone-producing adenoma with seizures and neurological abnormalities [RCV003147985] Chr3:53801115 [GRCh38]
Chr3:53835142 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1856G>C (p.Arg619Pro) single nucleotide variant not provided [RCV003152047] Chr3:53723623 [GRCh38]
Chr3:53757650 [GRCh37]
Chr3:3p21.1		 pathogenic|uncertain significance
NM_001128840.3(CACNA1D):c.3754A>G (p.Met1252Val) single nucleotide variant not specified [RCV002247045] Chr3:53753650 [GRCh38]
Chr3:53787677 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5399G>A (p.Ser1800Asn) single nucleotide variant See cases [RCV002252604]|not provided [RCV003094159] Chr3:53801416 [GRCh38]
Chr3:53835443 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1372G>C (p.Glu458Gln) single nucleotide variant Aldosterone-producing adenoma with seizures and neurological abnormalities [RCV002227709]|not provided [RCV003774682] Chr3:53702792 [GRCh38]
Chr3:53736819 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3939C>G (p.Ile1313Met) single nucleotide variant not provided [RCV003234497] Chr3:53770447 [GRCh38]
Chr3:53804474 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.22A>G (p.Lys8Glu) single nucleotide variant not provided [RCV003231938] Chr3:53495188 [GRCh38]
Chr3:53529215 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_000720.4(CACNA1D):c.1492C>T (p.Arg498Trp) single nucleotide variant not provided [RCV002278942] Chr3:53718695 [GRCh38]
Chr3:53752722 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1958T>C (p.Leu653Pro) single nucleotide variant Aldosterone-producing adenoma with seizures and neurological abnormalities [RCV002271978] Chr3:53723857 [GRCh38]
Chr3:53757884 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.67+734del deletion not provided [RCV002293093] Chr3:53495967 [GRCh38]
Chr3:53529994 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.5544_5545dup (p.Glu1849fs) duplication not provided [RCV002279095] Chr3:53803529..53803530 [GRCh38]
Chr3:53837556..53837557 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.206_208delinsCCCCCCTCT (p.Met69_Ser70delinsThrProLeuCys) indel not provided [RCV002273512] Chr3:53497290..53497292 [GRCh38]
Chr3:53531317..53531319 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1023C>A (p.Asn341Lys) single nucleotide variant not provided [RCV002275778] Chr3:53666442 [GRCh38]
Chr3:53700469 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1011G>A (p.Trp337Ter) single nucleotide variant not provided [RCV002269502] Chr3:53666430 [GRCh38]
Chr3:53700457 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2426G>C (p.Arg809Thr) single nucleotide variant not provided [RCV002296885] Chr3:53732035 [GRCh38]
Chr3:53766062 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3259G>A (p.Val1087Ile) single nucleotide variant not provided [RCV002276440] Chr3:53747393 [GRCh38]
Chr3:53781420 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.484-53385T>G single nucleotide variant Aldosterone-producing adenoma with seizures and neurological abnormalities [RCV002276481] Chr3:53597394 [GRCh38]
Chr3:53631421 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5759G>T (p.Arg1920Ile) single nucleotide variant not provided [RCV002265168] Chr3:53808658 [GRCh38]
Chr3:53842685 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2414T>G (p.Ile805Ser) single nucleotide variant not provided [RCV002267405] Chr3:53732023 [GRCh38]
Chr3:53766050 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3186del (p.Leu1061_Tyr1062insTer) deletion not provided [RCV002288207] Chr3:53747320 [GRCh38]
Chr3:53781347 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5109G>T (p.Gln1703His) single nucleotide variant not provided [RCV002267520] Chr3:53801126 [GRCh38]
Chr3:53835153 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1300G>T (p.Asp434Tyr) single nucleotide variant not provided [RCV002265240] Chr3:53702720 [GRCh38]
Chr3:53736747 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3314+1G>C single nucleotide variant not provided [RCV002293649] Chr3:53747449 [GRCh38]
Chr3:53781476 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2644C>T (p.Leu882Phe) single nucleotide variant not provided [RCV002265110] Chr3:53735396 [GRCh38]
Chr3:53769423 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2222-1G>A single nucleotide variant Aldosterone-producing adenoma with seizures and neurological abnormalities [RCV002291158] Chr3:53730441 [GRCh38]
Chr3:53764468 [GRCh37]
Chr3:3p21.1		 pathogenic
NM_001128840.3(CACNA1D):c.703G>C (p.Asp235His) single nucleotide variant not provided [RCV002297404] Chr3:53660212 [GRCh38]
Chr3:53694239 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3957T>G (p.Arg1319=) single nucleotide variant not provided [RCV002265298] Chr3:53770465 [GRCh38]
Chr3:53804492 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1811T>C (p.Leu604Ser) single nucleotide variant not provided [RCV002288200] Chr3:53723578 [GRCh38]
Chr3:53757605 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5714C>T (p.Ser1905Phe) single nucleotide variant not provided [RCV002297292] Chr3:53805111 [GRCh38]
Chr3:53839138 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1201G>C (p.Val401Leu) single nucleotide variant See cases [RCV003156168] Chr3:53673107 [GRCh38]
Chr3:53707134 [GRCh37]
Chr3:3p21.1		 likely pathogenic
NM_001128840.3(CACNA1D):c.1364A>G (p.Glu455Gly) single nucleotide variant Inborn genetic diseases [RCV003260920] Chr3:53702784 [GRCh38]
Chr3:53736811 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6168G>A (p.Arg2056=) single nucleotide variant not provided [RCV002681618] Chr3:53810274 [GRCh38]
Chr3:53844301 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3262C>T (p.Leu1088Phe) single nucleotide variant not provided [RCV002474013] Chr3:53747396 [GRCh38]
Chr3:53781423 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2323A>G (p.Lys775Glu) single nucleotide variant not provided [RCV002303601] Chr3:53730543 [GRCh38]
Chr3:53764570 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4495del (p.Arg1499fs) deletion not provided [RCV002473415] Chr3:53776863 [GRCh38]
Chr3:53810890 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2582C>T (p.Pro861Leu) single nucleotide variant not provided [RCV002469684] Chr3:53732923 [GRCh38]
Chr3:53766950 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.113G>A (p.Gly38Glu) single nucleotide variant not provided [RCV003128900] Chr3:53497197 [GRCh38]
Chr3:53531224 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2100+11C>T single nucleotide variant not provided [RCV002614320] Chr3:53724010 [GRCh38]
Chr3:53758037 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1456C>T (p.Arg486Ter) single nucleotide variant not provided [RCV003129134] Chr3:53718366 [GRCh38]
Chr3:53752393 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5993C>G (p.Thr1998Ser) single nucleotide variant not provided [RCV002305042] Chr3:53810099 [GRCh38]
Chr3:53844126 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6169A>C (p.Ser2057Arg) single nucleotide variant not provided [RCV002303736] Chr3:53810275 [GRCh38]
Chr3:53844302 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5261C>A (p.Thr1754Lys) single nucleotide variant not provided [RCV002300802] Chr3:53801278 [GRCh38]
Chr3:53835305 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3871C>T (p.Pro1291Ser) single nucleotide variant not provided [RCV002297903] Chr3:53769973 [GRCh38]
Chr3:53804000 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5684A>G (p.Asp1895Gly) single nucleotide variant not provided [RCV002295151] Chr3:53805081 [GRCh38]
Chr3:53839108 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4037C>T (p.Ser1346Phe) single nucleotide variant not provided [RCV002299744] Chr3:53770545 [GRCh38]
Chr3:53804572 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6065G>A (p.Ser2022Asn) single nucleotide variant not provided [RCV002302623] Chr3:53810171 [GRCh38]
Chr3:53844198 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.191A>G (p.Lys64Arg) single nucleotide variant not provided [RCV002306222] Chr3:53497275 [GRCh38]
Chr3:53531302 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.939C>G (p.Asp313Glu) single nucleotide variant not provided [RCV002301826] Chr3:53666358 [GRCh38]
Chr3:53700385 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2690T>C (p.Met897Thr) single nucleotide variant not provided [RCV002300299] Chr3:53735442 [GRCh38]
Chr3:53769469 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5289G>A (p.Met1763Ile) single nucleotide variant not provided [RCV002295106] Chr3:53801306 [GRCh38]
Chr3:53835333 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.530T>G (p.Phe177Cys) single nucleotide variant not provided [RCV002302023] Chr3:53650825 [GRCh38]
Chr3:53684852 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3223C>T (p.Arg1075Trp) single nucleotide variant not provided [RCV002303148] Chr3:53747357 [GRCh38]
Chr3:53781384 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5956G>A (p.Ala1986Thr) single nucleotide variant not provided [RCV002299566] Chr3:53810062 [GRCh38]
Chr3:53844089 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2406+18C>T single nucleotide variant not provided [RCV002993713] Chr3:53731164 [GRCh38]
Chr3:53765191 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.476A>G (p.His159Arg) single nucleotide variant not provided [RCV002815874] Chr3:53501713 [GRCh38]
Chr3:53535740 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5435G>C (p.Arg1812Thr) single nucleotide variant Inborn genetic diseases [RCV002860069]|not provided [RCV003679149] Chr3:53802173 [GRCh38]
Chr3:53836200 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4667C>T (p.Thr1556Met) single nucleotide variant not provided [RCV002727031] Chr3:53780105 [GRCh38]
Chr3:53814132 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.42G>T (p.Arg14=) single nucleotide variant not provided [RCV002903359] Chr3:53495208 [GRCh38]
Chr3:53529235 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5409-11T>C single nucleotide variant not provided [RCV003012494] Chr3:53802136 [GRCh38]
Chr3:53836163 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4877G>C (p.Gly1626Ala) single nucleotide variant not provided [RCV002837989] Chr3:53786906 [GRCh38]
Chr3:53820933 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4035G>A (p.Lys1345=) single nucleotide variant not provided [RCV002838851] Chr3:53770543 [GRCh38]
Chr3:53804570 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2481AGAGGA[2] (p.Glu833_Glu834del) microsatellite not provided [RCV002614292] Chr3:53732819..53732824 [GRCh38]
Chr3:53766846..53766851 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1877T>C (p.Ile626Thr) single nucleotide variant not provided [RCV002815186] Chr3:53723644 [GRCh38]
Chr3:53757671 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4750A>G (p.Thr1584Ala) single nucleotide variant not provided [RCV002511209] Chr3:53781625 [GRCh38]
Chr3:53815652 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1116+12G>T single nucleotide variant not provided [RCV002862897] Chr3:53666547 [GRCh38]
Chr3:53700574 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5635G>A (p.Glu1879Lys) single nucleotide variant not provided [RCV002815686] Chr3:53805032 [GRCh38]
Chr3:53839059 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5509C>G (p.Pro1837Ala) single nucleotide variant not provided [RCV002774788] Chr3:53803496 [GRCh38]
Chr3:53837523 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1116+13G>C single nucleotide variant not provided [RCV002816158] Chr3:53666548 [GRCh38]
Chr3:53700575 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5872-6C>A single nucleotide variant not provided [RCV002838637] Chr3:53809972 [GRCh38]
Chr3:53843999 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.484-14G>C single nucleotide variant not provided [RCV002839467] Chr3:53650765 [GRCh38]
Chr3:53684792 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3789G>T (p.Gly1263=) single nucleotide variant not provided [RCV002904556] Chr3:53762000 [GRCh38]
Chr3:53796027 [GRCh37]
Chr3:3p21.1		 likely benign|conflicting interpretations of pathogenicity
NM_000720.4(CACNA1D):c.1200G>T (p.Leu400=) single nucleotide variant not provided [RCV003016488] Chr3:53673796 [GRCh38]
Chr3:53707823 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4362+18C>T single nucleotide variant not provided [RCV003033996] Chr3:53776063 [GRCh38]
Chr3:53810090 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2621+8C>T single nucleotide variant not provided [RCV002734799] Chr3:53732970 [GRCh38]
Chr3:53766997 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5040+10C>T single nucleotide variant not provided [RCV002755157] Chr3:53800375 [GRCh38]
Chr3:53834402 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.6039C>T (p.Asn2013=) single nucleotide variant not provided [RCV002618671] Chr3:53810145 [GRCh38]
Chr3:53844172 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5851C>T (p.Leu1951=) single nucleotide variant not provided [RCV002909081] Chr3:53808750 [GRCh38]
Chr3:53842777 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2292T>A (p.Ala764=) single nucleotide variant not provided [RCV002690286] Chr3:53730512 [GRCh38]
Chr3:53764539 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5585+8G>T single nucleotide variant not provided [RCV002908885] Chr3:53803580 [GRCh38]
Chr3:53837607 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.6441T>A (p.Asp2147Glu) single nucleotide variant not provided [RCV003017417] Chr3:53811361 [GRCh38]
Chr3:53845388 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3370C>G (p.His1124Asp) single nucleotide variant not provided [RCV002618821] Chr3:53749323 [GRCh38]
Chr3:53783350 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2812-10C>T single nucleotide variant not provided [RCV002820120] Chr3:53743001 [GRCh38]
Chr3:53777028 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3594C>G (p.Phe1198Leu) single nucleotide variant not provided [RCV003014197] Chr3:53751826 [GRCh38]
Chr3:53785853 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3555G>T (p.Leu1185Phe) single nucleotide variant not provided [RCV002996681] Chr3:53751787 [GRCh38]
Chr3:53785814 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2891G>T (p.Gly964Val) single nucleotide variant not provided [RCV002838544] Chr3:53743090 [GRCh38]
Chr3:53777117 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.302G>A (p.Arg101Gln) single nucleotide variant not provided [RCV002816615] Chr3:53497386 [GRCh38]
Chr3:53531413 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3168-6C>T single nucleotide variant CACNA1D-related condition [RCV003973454]|not provided [RCV002636072] Chr3:53747296 [GRCh38]
Chr3:53781323 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4318G>C (p.Ala1440Pro) single nucleotide variant not provided [RCV002908952] Chr3:53776001 [GRCh38]
Chr3:53810028 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3692A>G (p.Lys1231Arg) single nucleotide variant not provided [RCV002842879] Chr3:53753588 [GRCh38]
Chr3:53787615 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3709A>T (p.Met1237Leu) single nucleotide variant not provided [RCV002843519] Chr3:53753605 [GRCh38]
Chr3:53787632 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5556C>T (p.Tyr1852=) single nucleotide variant not provided [RCV002770997] Chr3:53803543 [GRCh38]
Chr3:53837570 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3278C>T (p.Ala1093Val) single nucleotide variant not provided [RCV002690076] Chr3:53747412 [GRCh38]
Chr3:53781439 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6192+11T>C single nucleotide variant not provided [RCV002881730] Chr3:53810309 [GRCh38]
Chr3:53844336 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1116+8C>A single nucleotide variant not provided [RCV002838157] Chr3:53666543 [GRCh38]
Chr3:53700570 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.624-15T>C single nucleotide variant not provided [RCV002838891] Chr3:53660118 [GRCh38]
Chr3:53694145 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3199G>A (p.Val1067Ile) single nucleotide variant not provided [RCV002618642] Chr3:53747333 [GRCh38]
Chr3:53781360 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5435+14_5435+22dup duplication not provided [RCV002734787] Chr3:53802184..53802185 [GRCh38]
Chr3:53836211..53836212 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3836G>A (p.Gly1279Asp) single nucleotide variant not provided [RCV002903339] Chr3:53762047 [GRCh38]
Chr3:53796074 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5676G>C (p.Glu1892Asp) single nucleotide variant not provided [RCV002838992] Chr3:53805073 [GRCh38]
Chr3:53839100 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6192A>G (p.Ala2064=) single nucleotide variant not provided [RCV002730624] Chr3:53810298 [GRCh38]
Chr3:53844325 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1220+568A>G single nucleotide variant not provided [RCV002755143] Chr3:53673694 [GRCh38]
Chr3:53707721 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.391T>C (p.Phe131Leu) single nucleotide variant not provided [RCV002750744] Chr3:53501628 [GRCh38]
Chr3:53535655 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1105G>A (p.Val369Met) single nucleotide variant Inborn genetic diseases [RCV002683913] Chr3:53666524 [GRCh38]
Chr3:53700551 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3314+16A>G single nucleotide variant not provided [RCV002993709] Chr3:53747464 [GRCh38]
Chr3:53781491 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5750-7T>C single nucleotide variant not provided [RCV003014888] Chr3:53808642 [GRCh38]
Chr3:53842669 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2331T>C (p.Ile777=) single nucleotide variant not provided [RCV002750074] Chr3:53730551 [GRCh38]
Chr3:53764578 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5321T>A (p.Ile1774Asn) single nucleotide variant not provided [RCV002681857] Chr3:53801338 [GRCh38]
Chr3:53835365 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4268C>A (p.Pro1423His) single nucleotide variant not provided [RCV002816018] Chr3:53775951 [GRCh38]
Chr3:53809978 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4909A>G (p.Thr1637Ala) single nucleotide variant Inborn genetic diseases [RCV002751880] Chr3:53786938 [GRCh38]
Chr3:53820965 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4437T>C (p.Pro1479=) single nucleotide variant not provided [RCV002882084] Chr3:53776677 [GRCh38]
Chr3:53810704 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.6348C>A (p.Asn2116Lys) single nucleotide variant not provided [RCV002838893] Chr3:53811268 [GRCh38]
Chr3:53845295 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1571C>T (p.Thr524Met) single nucleotide variant not provided [RCV002681179] Chr3:53722379 [GRCh38]
Chr3:53756406 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1779C>T (p.Phe593=) single nucleotide variant not provided [RCV002730242] Chr3:53723546 [GRCh38]
Chr3:53757573 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5586-11C>A single nucleotide variant not provided [RCV002991809] Chr3:53804972 [GRCh38]
Chr3:53838999 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3300T>C (p.Phe1100=) single nucleotide variant not provided [RCV003015717] Chr3:53747434 [GRCh38]
Chr3:53781461 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4215T>G (p.Gly1405=) single nucleotide variant not provided [RCV002613591] Chr3:53775898 [GRCh38]
Chr3:53809925 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5750-4C>T single nucleotide variant not provided [RCV003034394] Chr3:53808645 [GRCh38]
Chr3:53842672 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.920A>C (p.Asp307Ala) single nucleotide variant not provided [RCV003035016] Chr3:53666339 [GRCh38]
Chr3:53700366 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4111-10C>A single nucleotide variant not provided [RCV002617212] Chr3:53774577 [GRCh38]
Chr3:53808604 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4792+14A>G single nucleotide variant not provided [RCV002618436] Chr3:53781681 [GRCh38]
Chr3:53815708 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2154C>T (p.Tyr718=) single nucleotide variant not provided [RCV002613489] Chr3:53726932 [GRCh38]
Chr3:53760959 [GRCh37]
Chr3:3p21.1		 likely benign
NM_000720.4(CACNA1D):c.1509G>C (p.Lys503Asn) single nucleotide variant not provided [RCV002815979] Chr3:53718712 [GRCh38]
Chr3:53752739 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6484T>C (p.Ter2162Gln) single nucleotide variant not provided [RCV002755582] Chr3:53811404 [GRCh38]
Chr3:53845431 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2474-15G>A single nucleotide variant not provided [RCV003014605] Chr3:53732800 [GRCh38]
Chr3:53766827 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4701G>A (p.Glu1567=) single nucleotide variant not provided [RCV002881691] Chr3:53781576 [GRCh38]
Chr3:53815603 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2137G>A (p.Asp713Asn) single nucleotide variant not provided [RCV002726474] Chr3:53726915 [GRCh38]
Chr3:53760942 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4460G>A (p.Arg1487Lys) single nucleotide variant not provided [RCV003034182] Chr3:53776700 [GRCh38]
Chr3:53810727 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6259G>A (p.Glu2087Lys) single nucleotide variant not provided [RCV003034378] Chr3:53811179 [GRCh38]
Chr3:53845206 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4792+3C>T single nucleotide variant not provided [RCV002481189] Chr3:53781670 [GRCh38]
Chr3:53815697 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4683G>A (p.Lys1561=) single nucleotide variant not provided [RCV003034585] Chr3:53780121 [GRCh38]
Chr3:53814148 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.6267T>C (p.Ala2089=) single nucleotide variant not provided [RCV002914121] Chr3:53811187 [GRCh38]
Chr3:53845214 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3841A>G (p.Ile1281Val) single nucleotide variant not provided [RCV003036272] Chr3:53762052 [GRCh38]
Chr3:53796079 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3670A>G (p.Met1224Val) single nucleotide variant not provided [RCV003003147] Chr3:53751902 [GRCh38]
Chr3:53785929 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1220+707G>A single nucleotide variant not provided [RCV002740407] Chr3:53673833 [GRCh38]
Chr3:53707860 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5921C>T (p.Pro1974Leu) single nucleotide variant not provided [RCV002785840] Chr3:53810027 [GRCh38]
Chr3:53844054 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6174G>A (p.Ala2058=) single nucleotide variant not provided [RCV003081558] Chr3:53810280 [GRCh38]
Chr3:53844307 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3334G>A (p.Asp1112Asn) single nucleotide variant not provided [RCV002800542] Chr3:53749287 [GRCh38]
Chr3:53783314 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3314+11G>C single nucleotide variant not provided [RCV003022014] Chr3:53747459 [GRCh38]
Chr3:53781486 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5219A>G (p.His1740Arg) single nucleotide variant not provided [RCV002923176] Chr3:53801236 [GRCh38]
Chr3:53835263 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5774T>C (p.Phe1925Ser) single nucleotide variant not provided [RCV002638971] Chr3:53808673 [GRCh38]
Chr3:53842700 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4923+7T>G single nucleotide variant not provided [RCV003039392] Chr3:53786959 [GRCh38]
Chr3:53820986 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1499A>G (p.Lys500Arg) single nucleotide variant not provided [RCV002800456] Chr3:53719775 [GRCh38]
Chr3:53753802 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3786+9C>T single nucleotide variant not provided [RCV002825502] Chr3:53753691 [GRCh38]
Chr3:53787718 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4080G>T (p.Leu1360=) single nucleotide variant not provided [RCV003035881] Chr3:53772868 [GRCh38]
Chr3:53806895 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4362+12A>G single nucleotide variant not provided [RCV002639003] Chr3:53776057 [GRCh38]
Chr3:53810084 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5158C>T (p.Pro1720Ser) single nucleotide variant not provided [RCV002696266] Chr3:53801175 [GRCh38]
Chr3:53835202 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1505+3C>T single nucleotide variant not provided [RCV002593460] Chr3:53719784 [GRCh38]
Chr3:53753811 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3218G>C (p.Arg1073Pro) single nucleotide variant Inborn genetic diseases [RCV002870578] Chr3:53747352 [GRCh38]
Chr3:53781379 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.168A>T (p.Ala56=) single nucleotide variant not provided [RCV003039528] Chr3:53497252 [GRCh38]
Chr3:53531279 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.6065dup (p.Ser2022fs) duplication not provided [RCV002740179] Chr3:53810170..53810171 [GRCh38]
Chr3:53844197..53844198 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5357A>G (p.His1786Arg) single nucleotide variant not provided [RCV002640160] Chr3:53801374 [GRCh38]
Chr3:53835401 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1095C>T (p.Gly365=) single nucleotide variant not provided [RCV003003218] Chr3:53666514 [GRCh38]
Chr3:53700541 [GRCh37]
Chr3:3p21.1		 likely benign
NM_000720.4(CACNA1D):c.1145C>T (p.Pro382Leu) single nucleotide variant not provided [RCV002696273] Chr3:53673741 [GRCh38]
Chr3:53707768 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2332G>A (p.Ala778Thr) single nucleotide variant not provided [RCV002740197] Chr3:53730552 [GRCh38]
Chr3:53764579 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5691C>T (p.Pro1897=) single nucleotide variant CACNA1D-related condition [RCV003943468]|not provided [RCV002662736] Chr3:53805088 [GRCh38]
Chr3:53839115 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4490+15A>G single nucleotide variant not provided [RCV002866993] Chr3:53776745 [GRCh38]
Chr3:53810772 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.293C>T (p.Ser98Phe) single nucleotide variant not provided [RCV003002866] Chr3:53497377 [GRCh38]
Chr3:53531404 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.483+12T>C single nucleotide variant not provided [RCV002658685] Chr3:53501732 [GRCh38]
Chr3:53535759 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3153C>A (p.Asn1051Lys) single nucleotide variant not provided [RCV002740216] Chr3:53745861 [GRCh38]
Chr3:53779888 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4664G>A (p.Arg1555Gln) single nucleotide variant not provided [RCV002572038] Chr3:53780102 [GRCh38]
Chr3:53814129 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5585+6C>A single nucleotide variant not provided [RCV002735234] Chr3:53803578 [GRCh38]
Chr3:53837605 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3919T>C (p.Ser1307Pro) single nucleotide variant not provided [RCV003036270] Chr3:53770427 [GRCh38]
Chr3:53804454 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2537G>A (p.Arg846Gln) single nucleotide variant not provided [RCV002735104] Chr3:53732878 [GRCh38]
Chr3:53766905 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6312C>T (p.Ser2104=) single nucleotide variant not provided [RCV002760936] Chr3:53811232 [GRCh38]
Chr3:53845259 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1834C>G (p.Pro612Ala) single nucleotide variant not provided [RCV003020371] Chr3:53723601 [GRCh38]
Chr3:53757628 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1784T>G (p.Val595Gly) single nucleotide variant not provided [RCV003036985] Chr3:53723551 [GRCh38]
Chr3:53757578 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.766+8C>T single nucleotide variant not provided [RCV002621735] Chr3:53660283 [GRCh38]
Chr3:53694310 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.307G>A (p.Ala103Thr) single nucleotide variant not provided [RCV003035712] Chr3:53497391 [GRCh38]
Chr3:53531418 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1740A>G (p.Gln580=) single nucleotide variant not provided [RCV003038067] Chr3:53723507 [GRCh38]
Chr3:53757534 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3343G>A (p.Gly1115Arg) single nucleotide variant not provided [RCV002639151] Chr3:53749296 [GRCh38]
Chr3:53783323 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6456G>A (p.Ala2152=) single nucleotide variant not provided [RCV002912724] Chr3:53811376 [GRCh38]
Chr3:53845403 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2405A>G (p.Lys802Arg) single nucleotide variant not provided [RCV002797223] Chr3:53731145 [GRCh38]
Chr3:53765172 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4590A>G (p.Arg1530=) single nucleotide variant not provided [RCV002638575] Chr3:53780028 [GRCh38]
Chr3:53814055 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2161C>G (p.Pro721Ala) single nucleotide variant not provided [RCV002705963] Chr3:53726939 [GRCh38]
Chr3:53760966 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1770T>C (p.Phe590=) single nucleotide variant not provided [RCV002843997] Chr3:53723537 [GRCh38]
Chr3:53757564 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4490+4G>C single nucleotide variant not provided [RCV002736503] Chr3:53776734 [GRCh38]
Chr3:53810761 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2345G>A (p.Ser782Asn) single nucleotide variant not provided [RCV003100617] Chr3:53731085 [GRCh38]
Chr3:53765112 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2337-18C>G single nucleotide variant not provided [RCV003036671] Chr3:53731059 [GRCh38]
Chr3:53765086 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2053C>T (p.Arg685Trp) single nucleotide variant not provided [RCV002638210] Chr3:53723952 [GRCh38]
Chr3:53757979 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5457G>A (p.Gln1819=) single nucleotide variant not provided [RCV002622320] Chr3:53803444 [GRCh38]
Chr3:53837471 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.545C>T (p.Ala182Val) single nucleotide variant Inborn genetic diseases [RCV002642567]|not provided [RCV002636436] Chr3:53650840 [GRCh38]
Chr3:53684867 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1854T>G (p.Phe618Leu) single nucleotide variant not provided [RCV002912956] Chr3:53723621 [GRCh38]
Chr3:53757648 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4624G>A (p.Gly1542Arg) single nucleotide variant not provided [RCV002736573] Chr3:53780062 [GRCh38]
Chr3:53814089 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.378-13C>T single nucleotide variant not provided [RCV002846758] Chr3:53501602 [GRCh38]
Chr3:53535629 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3915+2T>C single nucleotide variant not provided [RCV002760654] Chr3:53770019 [GRCh38]
Chr3:53804046 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3006+15C>T single nucleotide variant not provided [RCV002570174] Chr3:53744842 [GRCh38]
Chr3:53778869 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2094G>A (p.Val698=) single nucleotide variant not provided [RCV003021584] Chr3:53723993 [GRCh38]
Chr3:53758020 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3916-8C>A single nucleotide variant not provided [RCV002621163] Chr3:53770416 [GRCh38]
Chr3:53804443 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3518G>A (p.Arg1173His) single nucleotide variant CACNA1D-related condition [RCV003409895]|not provided [RCV002639193] Chr3:53751750 [GRCh38]
Chr3:53785777 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2250C>T (p.Ile750=) single nucleotide variant not provided [RCV002622013] Chr3:53730470 [GRCh38]
Chr3:53764497 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3125A>G (p.Tyr1042Cys) single nucleotide variant Inborn genetic diseases [RCV002790302]|not provided [RCV002781156] Chr3:53745833 [GRCh38]
Chr3:53779860 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2621+9T>C single nucleotide variant not provided [RCV002736149] Chr3:53732971 [GRCh38]
Chr3:53766998 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3314C>T (p.Ala1105Val) single nucleotide variant not provided [RCV002785402] Chr3:53747448 [GRCh38]
Chr3:53781475 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5999T>C (p.Leu2000Pro) single nucleotide variant Inborn genetic diseases [RCV002910573]|not provided [RCV003730307] Chr3:53810105 [GRCh38]
Chr3:53844132 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2728C>T (p.Arg910Cys) single nucleotide variant not provided [RCV002621004] Chr3:53735480 [GRCh38]
Chr3:53769507 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5917T>G (p.Ser1973Ala) single nucleotide variant not provided [RCV002659054] Chr3:53810023 [GRCh38]
Chr3:53844050 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4179C>A (p.Pro1393=) single nucleotide variant not provided [RCV003054938] Chr3:53774655 [GRCh38]
Chr3:53808682 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.919+15T>C single nucleotide variant not provided [RCV002705683] Chr3:53665827 [GRCh38]
Chr3:53699854 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.433A>G (p.Ile145Val) single nucleotide variant not provided [RCV003002452] Chr3:53501670 [GRCh38]
Chr3:53535697 [GRCh37]
Chr3:3p21.1		 likely benign|uncertain significance
NM_001128840.3(CACNA1D):c.1575T>C (p.Phe525=) single nucleotide variant not provided [RCV002913873] Chr3:53722383 [GRCh38]
Chr3:53756410 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3412A>G (p.Ile1138Val) single nucleotide variant not provided [RCV002569659] Chr3:53749365 [GRCh38]
Chr3:53783392 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5408+6C>T single nucleotide variant not provided [RCV002639673] Chr3:53801431 [GRCh38]
Chr3:53835458 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5852T>C (p.Leu1951Pro) single nucleotide variant not provided [RCV002639675] Chr3:53808751 [GRCh38]
Chr3:53842778 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5886C>A (p.Ala1962=) single nucleotide variant not provided [RCV002913512] Chr3:53809992 [GRCh38]
Chr3:53844019 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2812-8G>C single nucleotide variant not provided [RCV003021588] Chr3:53743003 [GRCh38]
Chr3:53777030 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3168-13T>C single nucleotide variant not provided [RCV002591338] Chr3:53747289 [GRCh38]
Chr3:53781316 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2336+7del deletion not provided [RCV002690830] Chr3:53730561 [GRCh38]
Chr3:53764588 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5802G>T (p.Gln1934His) single nucleotide variant not provided [RCV002695251] Chr3:53808701 [GRCh38]
Chr3:53842728 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4095G>A (p.Ala1365=) single nucleotide variant not provided [RCV002658769] Chr3:53772883 [GRCh38]
Chr3:53806910 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3786+3G>C single nucleotide variant not provided [RCV003053829] Chr3:53753685 [GRCh38]
Chr3:53787712 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4415G>A (p.Arg1472Gln) single nucleotide variant not provided [RCV002622764] Chr3:53776655 [GRCh38]
Chr3:53810682 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4793A>G (p.Asp1598Gly) single nucleotide variant not provided [RCV003038944] Chr3:53786822 [GRCh38]
Chr3:53820849 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.948A>G (p.Pro316=) single nucleotide variant not provided [RCV002979342] Chr3:53666367 [GRCh38]
Chr3:53700394 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4017G>A (p.Leu1339=) single nucleotide variant not provided [RCV002952556] Chr3:53770525 [GRCh38]
Chr3:53804552 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3786+16C>G single nucleotide variant not provided [RCV003020703] Chr3:53753698 [GRCh38]
Chr3:53787725 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5127T>C (p.Arg1709=) single nucleotide variant not provided [RCV002695332] Chr3:53801144 [GRCh38]
Chr3:53835171 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5871+14del deletion not provided [RCV003021433] Chr3:53808783 [GRCh38]
Chr3:53842810 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5585+16T>C single nucleotide variant not provided [RCV002694974] Chr3:53803588 [GRCh38]
Chr3:53837615 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2101-9G>A single nucleotide variant not provided [RCV002691181] Chr3:53726870 [GRCh38]
Chr3:53760897 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.377+12T>C single nucleotide variant not provided [RCV002570889] Chr3:53497473 [GRCh38]
Chr3:53531500 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.928G>C (p.Ala310Pro) single nucleotide variant not provided [RCV002695529] Chr3:53666347 [GRCh38]
Chr3:53700374 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4321A>G (p.Ile1441Val) single nucleotide variant Inborn genetic diseases [RCV002799805] Chr3:53776004 [GRCh38]
Chr3:53810031 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2128G>T (p.Val710Leu) single nucleotide variant not provided [RCV002780909] Chr3:53726906 [GRCh38]
Chr3:53760933 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3958C>A (p.Leu1320Ile) single nucleotide variant not provided [RCV002979169] Chr3:53770466 [GRCh38]
Chr3:53804493 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4440C>T (p.His1480=) single nucleotide variant not provided [RCV002847782] Chr3:53776680 [GRCh38]
Chr3:53810707 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4045-13T>A single nucleotide variant not provided [RCV002622280] Chr3:53772820 [GRCh38]
Chr3:53806847 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4257G>C (p.Lys1419Asn) single nucleotide variant not provided [RCV002695547] Chr3:53775940 [GRCh38]
Chr3:53809967 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2751G>A (p.Thr917=) single nucleotide variant not provided [RCV002570073] Chr3:53735503 [GRCh38]
Chr3:53769530 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5408+6dup duplication not provided [RCV002927520] Chr3:53801429..53801430 [GRCh38]
Chr3:53835456..53835457 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1602T>C (p.Phe534=) single nucleotide variant not provided [RCV002909243] Chr3:53722410 [GRCh38]
Chr3:53756437 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4587+12G>C single nucleotide variant not provided [RCV003036130] Chr3:53776968 [GRCh38]
Chr3:53810995 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1357G>A (p.Glu453Lys) single nucleotide variant not provided [RCV002663865] Chr3:53702777 [GRCh38]
Chr3:53736804 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1767G>T (p.Arg589=) single nucleotide variant not provided [RCV003040377] Chr3:53723534 [GRCh38]
Chr3:53757561 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3155C>G (p.Pro1052Arg) single nucleotide variant not provided [RCV002710769] Chr3:53745863 [GRCh38]
Chr3:53779890 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2918+3A>G single nucleotide variant not provided [RCV003007607] Chr3:53743120 [GRCh38]
Chr3:53777147 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2407-9del deletion not provided [RCV002627303] Chr3:53732007 [GRCh38]
Chr3:53766034 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1256G>A (p.Arg419Gln) single nucleotide variant not provided [RCV002627366] Chr3:53702676 [GRCh38]
Chr3:53736703 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3627C>T (p.Tyr1209=) single nucleotide variant not provided [RCV002700686] Chr3:53751859 [GRCh38]
Chr3:53785886 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2336+17del deletion not provided [RCV002667622] Chr3:53730570 [GRCh38]
Chr3:53764597 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.5785C>T (p.Arg1929Cys) single nucleotide variant not provided [RCV002667563] Chr3:53808684 [GRCh38]
Chr3:53842711 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5304T>C (p.His1768=) single nucleotide variant not provided [RCV003056176] Chr3:53801321 [GRCh38]
Chr3:53835348 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2815A>G (p.Thr939Ala) single nucleotide variant not provided [RCV002700924] Chr3:53743014 [GRCh38]
Chr3:53777041 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1935C>T (p.Asn645=) single nucleotide variant not provided [RCV002624763] Chr3:53723834 [GRCh38]
Chr3:53757861 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.23_24delinsTG (p.Lys8Met) indel not provided [RCV002668041] Chr3:53495189..53495190 [GRCh38]
Chr3:53529216..53529217 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5358T>C (p.His1786=) single nucleotide variant not provided [RCV002741474] Chr3:53801375 [GRCh38]
Chr3:53835402 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1821G>A (p.Leu607=) single nucleotide variant not provided [RCV003026159] Chr3:53723588 [GRCh38]
Chr3:53757615 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4501_4507dup (p.Leu1503fs) duplication not provided [RCV003055817] Chr3:53776869..53776870 [GRCh38]
Chr3:53810896..53810897 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2751+2T>C single nucleotide variant not provided [RCV002663247] Chr3:53735505 [GRCh38]
Chr3:53769532 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5872-15C>T single nucleotide variant not provided [RCV003026115] Chr3:53809963 [GRCh38]
Chr3:53843990 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3270T>C (p.Ala1090=) single nucleotide variant not provided [RCV002851262] Chr3:53747404 [GRCh38]
Chr3:53781431 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3883G>A (p.Glu1295Lys) single nucleotide variant not provided [RCV003023262] Chr3:53769985 [GRCh38]
Chr3:53804012 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2844G>A (p.Gly948=) single nucleotide variant not provided [RCV002853333] Chr3:53743043 [GRCh38]
Chr3:53777070 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1220+568A>T single nucleotide variant not provided [RCV003025968] Chr3:53673694 [GRCh38]
Chr3:53707721 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.6343G>A (p.Ala2115Thr) single nucleotide variant not provided [RCV003057083] Chr3:53811263 [GRCh38]
Chr3:53845290 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2100+19C>G single nucleotide variant not provided [RCV002574271] Chr3:53724018 [GRCh38]
Chr3:53758045 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.105T>C (p.Ser35=) single nucleotide variant not provided [RCV003006517] Chr3:53497189 [GRCh38]
Chr3:53531216 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.82A>G (p.Arg28Gly) single nucleotide variant Inborn genetic diseases [RCV002915624]|not provided [RCV003777937] Chr3:53497166 [GRCh38]
Chr3:53531193 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2019C>T (p.Gly673=) single nucleotide variant not provided [RCV002800804] Chr3:53723918 [GRCh38]
Chr3:53757945 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5872-18A>C single nucleotide variant not provided [RCV003024472] Chr3:53809960 [GRCh38]
Chr3:53843987 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2057G>A (p.Ser686Asn) single nucleotide variant not provided [RCV002801693] Chr3:53723956 [GRCh38]
Chr3:53757983 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_000720.4(CACNA1D):c.1174C>T (p.Leu392Phe) single nucleotide variant not provided [RCV002741764] Chr3:53673770 [GRCh38]
Chr3:53707797 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5596G>T (p.Gly1866Cys) single nucleotide variant Inborn genetic diseases [RCV002742078] Chr3:53804993 [GRCh38]
Chr3:53839020 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3915+1G>T single nucleotide variant Inborn genetic diseases [RCV002875211] Chr3:53770018 [GRCh38]
Chr3:53804045 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6444GGA[1] (p.Glu2149del) microsatellite not provided [RCV002508542] Chr3:53811362..53811364 [GRCh38]
Chr3:53845389..53845391 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3877G>A (p.Glu1293Lys) single nucleotide variant not provided [RCV003005474] Chr3:53769979 [GRCh38]
Chr3:53804006 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_000720.4(CACNA1D):c.1503G>C (p.Ala501=) single nucleotide variant not provided [RCV002917955] Chr3:53718706 [GRCh38]
Chr3:53752733 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3456C>T (p.Ile1152=) single nucleotide variant not provided [RCV002801060] Chr3:53749409 [GRCh38]
Chr3:53783436 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.6018A>G (p.Ser2006=) single nucleotide variant not provided [RCV003083187] Chr3:53810124 [GRCh38]
Chr3:53844151 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3628A>G (p.Met1210Val) single nucleotide variant not provided [RCV002595964] Chr3:53751860 [GRCh38]
Chr3:53785887 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3375C>T (p.Arg1125=) single nucleotide variant not provided [RCV002573169] Chr3:53749328 [GRCh38]
Chr3:53783355 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4287C>G (p.Pro1429=) single nucleotide variant not provided [RCV002643129] Chr3:53775970 [GRCh38]
Chr3:53809997 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5534A>G (p.Tyr1845Cys) single nucleotide variant not provided [RCV002740594] Chr3:53803521 [GRCh38]
Chr3:53837548 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1478+20G>A single nucleotide variant not provided [RCV003057970] Chr3:53718408 [GRCh38]
Chr3:53752435 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.689A>G (p.Lys230Arg) single nucleotide variant not provided [RCV002740593] Chr3:53660198 [GRCh38]
Chr3:53694225 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2243T>C (p.Leu748Ser) single nucleotide variant not provided [RCV002801380] Chr3:53730463 [GRCh38]
Chr3:53764490 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4011G>A (p.Arg1337=) single nucleotide variant not provided [RCV002666638] Chr3:53770519 [GRCh38]
Chr3:53804546 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5146C>T (p.Pro1716Ser) single nucleotide variant not provided [RCV002954427] Chr3:53801163 [GRCh38]
Chr3:53835190 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1419T>G (p.Ser473=) single nucleotide variant not provided [RCV002596769] Chr3:53718329 [GRCh38]
Chr3:53752356 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5276A>G (p.Asn1759Ser) single nucleotide variant Inborn genetic diseases [RCV002697898] Chr3:53801293 [GRCh38]
Chr3:53835320 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3787-20C>T single nucleotide variant not provided [RCV002643138] Chr3:53761978 [GRCh38]
Chr3:53796005 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5750C>T (p.Ser1917Phe) single nucleotide variant not provided [RCV002643345] Chr3:53808649 [GRCh38]
Chr3:53842676 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6218G>A (p.Arg2073His) single nucleotide variant not provided [RCV002932520] Chr3:53811138 [GRCh38]
Chr3:53845165 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.353C>G (p.Ala118Gly) single nucleotide variant not provided [RCV002642234] Chr3:53497437 [GRCh38]
Chr3:53531464 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1391C>T (p.Thr464Ile) single nucleotide variant not provided [RCV002917282] Chr3:53718301 [GRCh38]
Chr3:53752328 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2113G>A (p.Glu705Lys) single nucleotide variant not provided [RCV003059643] Chr3:53726891 [GRCh38]
Chr3:53760918 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.934G>T (p.Glu312Ter) single nucleotide variant not provided [RCV002828223] Chr3:53666353 [GRCh38]
Chr3:53700380 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6192+19C>T single nucleotide variant not provided [RCV002593860] Chr3:53810317 [GRCh38]
Chr3:53844344 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3871-18A>G single nucleotide variant not provided [RCV002576097] Chr3:53769955 [GRCh38]
Chr3:53803982 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5748A>G (p.Ala1916=) single nucleotide variant not provided [RCV003025999] Chr3:53805145 [GRCh38]
Chr3:53839172 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.810C>T (p.Pro270=) single nucleotide variant not provided [RCV003025964] Chr3:53665703 [GRCh38]
Chr3:53699730 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.6193-7T>C single nucleotide variant not provided [RCV002982410] Chr3:53811106 [GRCh38]
Chr3:53845133 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5331T>C (p.Leu1777=) single nucleotide variant not provided [RCV002663419] Chr3:53801348 [GRCh38]
Chr3:53835375 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3517-4G>C single nucleotide variant not provided [RCV002711256] Chr3:53751745 [GRCh38]
Chr3:53785772 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1959G>A (p.Leu653=) single nucleotide variant not provided [RCV003024320] Chr3:53723858 [GRCh38]
Chr3:53757885 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.89C>G (p.Thr30Ser) single nucleotide variant not provided [RCV002765653] Chr3:53497173 [GRCh38]
Chr3:53531200 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1529G>A (p.Arg510Gln) single nucleotide variant not provided [RCV002666621] Chr3:53722337 [GRCh38]
Chr3:53756364 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2621C>G (p.Pro874Arg) single nucleotide variant not provided [RCV003042963] Chr3:53732962 [GRCh38]
Chr3:53766989 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4044+5G>A single nucleotide variant not provided [RCV003057138] Chr3:53770557 [GRCh38]
Chr3:53804584 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2202C>T (p.Ile734=) single nucleotide variant not provided [RCV002595850] Chr3:53726980 [GRCh38]
Chr3:53761007 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2159G>A (p.Gly720Asp) single nucleotide variant not provided [RCV002700430] Chr3:53726937 [GRCh38]
Chr3:53760964 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1390+8G>T single nucleotide variant not provided [RCV003059218] Chr3:53702818 [GRCh38]
Chr3:53736845 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.6365T>A (p.Leu2122His) single nucleotide variant not provided [RCV002594488] Chr3:53811285 [GRCh38]
Chr3:53845312 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5964T>G (p.Pro1988=) single nucleotide variant not provided [RCV002643112] Chr3:53810070 [GRCh38]
Chr3:53844097 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1510C>T (p.Arg504Cys) single nucleotide variant not provided [RCV002643116] Chr3:53722318 [GRCh38]
Chr3:53756345 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2474-1G>A single nucleotide variant not provided [RCV002508375] Chr3:53732814 [GRCh38]
Chr3:53766841 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1636A>C (p.Asn546His) single nucleotide variant not provided [RCV003041736] Chr3:53722444 [GRCh38]
Chr3:53756471 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1391-16C>T single nucleotide variant not provided [RCV002701029] Chr3:53718285 [GRCh38]
Chr3:53752312 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.6294G>A (p.Glu2098=) single nucleotide variant not provided [RCV002596829] Chr3:53811214 [GRCh38]
Chr3:53845241 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4363-20T>A single nucleotide variant not provided [RCV002876314] Chr3:53776583 [GRCh38]
Chr3:53810610 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5T>C (p.Met2Thr) single nucleotide variant not provided [RCV003042960] Chr3:53495171 [GRCh38]
Chr3:53529198 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6102G>C (p.Arg2034=) single nucleotide variant not provided [RCV002596963] Chr3:53810208 [GRCh38]
Chr3:53844235 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2100+12C>T single nucleotide variant not provided [RCV002786369] Chr3:53724011 [GRCh38]
Chr3:53758038 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2843G>A (p.Gly948Glu) single nucleotide variant not provided [RCV003042969] Chr3:53743042 [GRCh38]
Chr3:53777069 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5237T>A (p.Ile1746Lys) single nucleotide variant not provided [RCV003059207] Chr3:53801254 [GRCh38]
Chr3:53835281 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3167+9C>G single nucleotide variant not provided [RCV002625571] Chr3:53745884 [GRCh38]
Chr3:53779911 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3964C>T (p.Arg1322Ter) single nucleotide variant Inborn genetic diseases [RCV002787171] Chr3:53770472 [GRCh38]
Chr3:53804499 [GRCh37]
Chr3:3p21.1		 pathogenic
NM_001128840.3(CACNA1D):c.678C>G (p.His226Gln) single nucleotide variant not provided [RCV002829449] Chr3:53660187 [GRCh38]
Chr3:53694214 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3731T>A (p.Phe1244Tyr) single nucleotide variant not provided [RCV002596586] Chr3:53753627 [GRCh38]
Chr3:53787654 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1520G>A (p.Arg507His) single nucleotide variant not provided [RCV002932790] Chr3:53722328 [GRCh38]
Chr3:53756355 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2744G>A (p.Arg915Gln) single nucleotide variant not provided [RCV002710078] Chr3:53735496 [GRCh38]
Chr3:53769523 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3621C>T (p.Phe1207=) single nucleotide variant not provided [RCV002594814] Chr3:53751853 [GRCh38]
Chr3:53785880 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5038A>G (p.Lys1680Glu) single nucleotide variant not provided [RCV003024976] Chr3:53800363 [GRCh38]
Chr3:53834390 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4792+8C>T single nucleotide variant not provided [RCV002957923] Chr3:53781675 [GRCh38]
Chr3:53815702 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4414C>T (p.Arg1472Trp) single nucleotide variant not provided [RCV002875842] Chr3:53776654 [GRCh38]
Chr3:53810681 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2592C>T (p.Ser864=) single nucleotide variant not provided [RCV002593930] Chr3:53732933 [GRCh38]
Chr3:53766960 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5436-20A>G single nucleotide variant not provided [RCV002596462] Chr3:53803403 [GRCh38]
Chr3:53837430 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3916-5T>G single nucleotide variant not provided [RCV002894551] Chr3:53770419 [GRCh38]
Chr3:53804446 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2TGA[9] (p.Met7_Lys8insMetMet) microsatellite Inborn genetic diseases [RCV002712759] Chr3:53495165..53495166 [GRCh38]
Chr3:53529192..53529193 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2622-15G>T single nucleotide variant not provided [RCV002894556] Chr3:53735359 [GRCh38]
Chr3:53769386 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1956G>A (p.Ser652=) single nucleotide variant not provided [RCV002580068] Chr3:53723855 [GRCh38]
Chr3:53757882 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.6340C>T (p.Arg2114Ter) single nucleotide variant not provided [RCV002671843] Chr3:53811260 [GRCh38]
Chr3:53845287 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.377+1G>A single nucleotide variant Inborn genetic diseases [RCV002718273]|not provided [RCV003777679] Chr3:53497462 [GRCh38]
Chr3:53531489 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2987A>G (p.Asn996Ser) single nucleotide variant not provided [RCV002580785] Chr3:53744808 [GRCh38]
Chr3:53778835 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3812C>T (p.Thr1271Met) single nucleotide variant not provided [RCV003031870] Chr3:53762023 [GRCh38]
Chr3:53796050 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3996G>A (p.Arg1332=) single nucleotide variant not provided [RCV002630137] Chr3:53770504 [GRCh38]
Chr3:53804531 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4765C>A (p.Leu1589Ile) single nucleotide variant not provided [RCV002602909] Chr3:53781640 [GRCh38]
Chr3:53815667 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5413C>T (p.Arg1805Cys) single nucleotide variant not provided [RCV002649948] Chr3:53802151 [GRCh38]
Chr3:53836178 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4963C>T (p.Arg1655Trp) single nucleotide variant not provided [RCV003048112] Chr3:53800288 [GRCh38]
Chr3:53834315 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1220+696C>T single nucleotide variant not provided [RCV002720635] Chr3:53673822 [GRCh38]
Chr3:53707849 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3314+18A>G single nucleotide variant not provided [RCV003027595] Chr3:53747466 [GRCh38]
Chr3:53781493 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1520G>T (p.Arg507Leu) single nucleotide variant not provided [RCV002900135] Chr3:53722328 [GRCh38]
Chr3:53756355 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3315-4C>G single nucleotide variant CACNA1D-related condition [RCV003961117]|not provided [RCV002721233] Chr3:53749264 [GRCh38]
Chr3:53783291 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5524G>A (p.Glu1842Lys) single nucleotide variant not provided [RCV002672266] Chr3:53803511 [GRCh38]
Chr3:53837538 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2811+18A>G single nucleotide variant not provided [RCV002581125] Chr3:53740357 [GRCh38]
Chr3:53774384 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5947A>C (p.Thr1983Pro) single nucleotide variant Inborn genetic diseases [RCV002674105] Chr3:53810053 [GRCh38]
Chr3:53844080 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5357A>C (p.His1786Pro) single nucleotide variant not provided [RCV002632096] Chr3:53801374 [GRCh38]
Chr3:53835401 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4260C>T (p.Leu1420=) single nucleotide variant not provided [RCV002675975] Chr3:53775943 [GRCh38]
Chr3:53809970 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2402A>T (p.Asn801Ile) single nucleotide variant not provided [RCV002631374] Chr3:53731142 [GRCh38]
Chr3:53765169 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3676-5C>T single nucleotide variant not provided [RCV002649733] Chr3:53753567 [GRCh38]
Chr3:53787594 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1533C>G (p.Phe511Leu) single nucleotide variant not provided [RCV002581652] Chr3:53722341 [GRCh38]
Chr3:53756368 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5122C>T (p.His1708Tyr) single nucleotide variant Inborn genetic diseases [RCV003355872]|not provided [RCV002601540] Chr3:53801139 [GRCh38]
Chr3:53835166 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1255C>T (p.Arg419Trp) single nucleotide variant not provided [RCV002631524] Chr3:53702675 [GRCh38]
Chr3:53736702 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2573C>T (p.Ala858Val) single nucleotide variant not provided [RCV002627510] Chr3:53732914 [GRCh38]
Chr3:53766941 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5687C>T (p.Ser1896Leu) single nucleotide variant not provided [RCV003086683] Chr3:53805084 [GRCh38]
Chr3:53839111 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2733C>T (p.Ser911=) single nucleotide variant not provided [RCV002988377] Chr3:53735485 [GRCh38]
Chr3:53769512 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4714G>C (p.Glu1572Gln) single nucleotide variant not provided [RCV002578587] Chr3:53781589 [GRCh38]
Chr3:53815616 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1362A>G (p.Glu454=) single nucleotide variant not provided [RCV002716718] Chr3:53702782 [GRCh38]
Chr3:53736809 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1893-5TA[3] microsatellite not provided [RCV002832830] Chr3:53723786..53723787 [GRCh38]
Chr3:53757813..53757814 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5447G>A (p.Gly1816Glu) single nucleotide variant Inborn genetic diseases [RCV002717555] Chr3:53803434 [GRCh38]
Chr3:53837461 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4287C>T (p.Pro1429=) single nucleotide variant not provided [RCV002645955] Chr3:53775970 [GRCh38]
Chr3:53809997 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1666+3A>G single nucleotide variant not provided [RCV002857579] Chr3:53722477 [GRCh38]
Chr3:53756504 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5072A>T (p.Asn1691Ile) single nucleotide variant Inborn genetic diseases [RCV002717674]|not provided [RCV003108170] Chr3:53801089 [GRCh38]
Chr3:53835116 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2805G>A (p.Leu935=) single nucleotide variant not provided [RCV002834556] Chr3:53740333 [GRCh38]
Chr3:53774360 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.624-7C>T single nucleotide variant not provided [RCV002576819] Chr3:53660126 [GRCh38]
Chr3:53694153 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2877T>C (p.Asp959=) single nucleotide variant not provided [RCV002670909] Chr3:53743076 [GRCh38]
Chr3:53777103 [GRCh37]
Chr3:3p21.1		 likely benign
NM_000720.4(CACNA1D):c.1529G>T (p.Arg510Leu) single nucleotide variant Inborn genetic diseases [RCV002897827]|not provided [RCV003575002] Chr3:53718732 [GRCh38]
Chr3:53752759 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1068T>C (p.Thr356=) single nucleotide variant not provided [RCV002672201] Chr3:53666487 [GRCh38]
Chr3:53700514 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5829C>T (p.Phe1943=) single nucleotide variant not provided [RCV002672239] Chr3:53808728 [GRCh38]
Chr3:53842755 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5660C>T (p.Pro1887Leu) single nucleotide variant not provided [RCV002715149] Chr3:53805057 [GRCh38]
Chr3:53839084 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3871-12G>T single nucleotide variant not provided [RCV002600374] Chr3:53769961 [GRCh38]
Chr3:53803988 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.171C>T (p.Ile57=) single nucleotide variant not provided [RCV002630196] Chr3:53497255 [GRCh38]
Chr3:53531282 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4721G>A (p.Arg1574Gln) single nucleotide variant not provided [RCV002646228] Chr3:53781596 [GRCh38]
Chr3:53815623 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.67+13A>T single nucleotide variant not provided [RCV002877091] Chr3:53495246 [GRCh38]
Chr3:53529273 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5570C>T (p.Ser1857Leu) single nucleotide variant not provided [RCV002579784] Chr3:53803557 [GRCh38]
Chr3:53837584 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4104C>T (p.Gly1368=) single nucleotide variant not provided [RCV002630456] Chr3:53772892 [GRCh38]
Chr3:53806919 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.67+11A>G single nucleotide variant not provided [RCV002716567] Chr3:53495244 [GRCh38]
Chr3:53529271 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3786+18C>G single nucleotide variant not provided [RCV002630414] Chr3:53753700 [GRCh38]
Chr3:53787727 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2094G>C (p.Val698=) single nucleotide variant not provided [RCV002715319] Chr3:53723993 [GRCh38]
Chr3:53758020 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4111A>G (p.Met1371Val) single nucleotide variant not provided [RCV003028962] Chr3:53774587 [GRCh38]
Chr3:53808614 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5935C>T (p.Arg1979Trp) single nucleotide variant Inborn genetic diseases [RCV002768832] Chr3:53810041 [GRCh38]
Chr3:53844068 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.718C>T (p.Arg240Cys) single nucleotide variant not provided [RCV002576979] Chr3:53660227 [GRCh38]
Chr3:53694254 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4792+10G>T single nucleotide variant not provided [RCV002857018] Chr3:53781677 [GRCh38]
Chr3:53815704 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4588-18C>T single nucleotide variant not provided [RCV003044259] Chr3:53780008 [GRCh38]
Chr3:53814035 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2490G>A (p.Glu830=) single nucleotide variant not provided [RCV002806735] Chr3:53732831 [GRCh38]
Chr3:53766858 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5789G>A (p.Arg1930Gln) single nucleotide variant not provided [RCV002672000] Chr3:53808688 [GRCh38]
Chr3:53842715 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5093G>A (p.Arg1698Lys) single nucleotide variant not provided [RCV003047498] Chr3:53801110 [GRCh38]
Chr3:53835137 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2392A>G (p.Asn798Asp) single nucleotide variant not provided [RCV003048043] Chr3:53731132 [GRCh38]
Chr3:53765159 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3748G>C (p.Val1250Leu) single nucleotide variant not provided [RCV002632027] Chr3:53753644 [GRCh38]
Chr3:53787671 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5664A>G (p.Gln1888=) single nucleotide variant CACNA1D-related condition [RCV003898420]|not provided [RCV002597952] Chr3:53805061 [GRCh38]
Chr3:53839088 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5585+20G>A single nucleotide variant not provided [RCV002647112] Chr3:53803592 [GRCh38]
Chr3:53837619 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1478+368C>T single nucleotide variant not provided [RCV002933836] Chr3:53718756 [GRCh38]
Chr3:53752783 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3017A>C (p.Gln1006Pro) single nucleotide variant not provided [RCV003029846] Chr3:53745634 [GRCh38]
Chr3:53779661 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5183T>C (p.Leu1728Pro) single nucleotide variant not provided [RCV003044585] Chr3:53801200 [GRCh38]
Chr3:53835227 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5506G>A (p.Asp1836Asn) single nucleotide variant not provided [RCV002810763] Chr3:53803493 [GRCh38]
Chr3:53837520 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_000720.4(CACNA1D):c.1178G>T (p.Gly393Val) single nucleotide variant not provided [RCV002746072] Chr3:53673774 [GRCh38]
Chr3:53707801 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6110C>T (p.Thr2037Ile) single nucleotide variant not provided [RCV002577562] Chr3:53810216 [GRCh38]
Chr3:53844243 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5601C>T (p.Tyr1867=) single nucleotide variant not provided [RCV002900327] Chr3:53804998 [GRCh38]
Chr3:53839025 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1853T>G (p.Phe618Cys) single nucleotide variant not provided [RCV002810539] Chr3:53723620 [GRCh38]
Chr3:53757647 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5011A>G (p.Lys1671Glu) single nucleotide variant not provided [RCV002810818] Chr3:53800336 [GRCh38]
Chr3:53834363 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2447A>C (p.Asp816Ala) single nucleotide variant Inborn genetic diseases [RCV002896742] Chr3:53732056 [GRCh38]
Chr3:53766083 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_000720.4(CACNA1D):c.1528C>G (p.Arg510Gly) single nucleotide variant Inborn genetic diseases [RCV002897826] Chr3:53718731 [GRCh38]
Chr3:53752758 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.522C>T (p.Val174=) single nucleotide variant not provided [RCV002578488] Chr3:53650817 [GRCh38]
Chr3:53684844 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5817G>A (p.Ser1939=) single nucleotide variant not provided [RCV002675537] Chr3:53808716 [GRCh38]
Chr3:53842743 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3167+10C>T single nucleotide variant not provided [RCV002599541] Chr3:53745885 [GRCh38]
Chr3:53779912 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.6133A>G (p.Ser2045Gly) single nucleotide variant not provided [RCV003046808] Chr3:53810239 [GRCh38]
Chr3:53844266 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2463C>T (p.Cys821=) single nucleotide variant not provided [RCV002601515] Chr3:53732072 [GRCh38]
Chr3:53766099 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5311C>T (p.Arg1771Trp) single nucleotide variant not provided [RCV002651710] Chr3:53801328 [GRCh38]
Chr3:53835355 [GRCh37]
Chr3:3p21.1		 likely benign
NM_000720.4(CACNA1D):c.1117G>T (p.Val373Leu) single nucleotide variant not provided [RCV002900091] Chr3:53673713 [GRCh38]
Chr3:53707740 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6193-3C>T single nucleotide variant not provided [RCV003091372] Chr3:53811110 [GRCh38]
Chr3:53845137 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5248G>A (p.Val1750Ile) single nucleotide variant not provided [RCV002580576] Chr3:53801265 [GRCh38]
Chr3:53835292 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6420A>G (p.Glu2140=) single nucleotide variant not provided [RCV003027370] Chr3:53811340 [GRCh38]
Chr3:53845367 [GRCh37]
Chr3:3p21.1		 likely benign
NM_000720.4(CACNA1D):c.1529G>A (p.Arg510Gln) single nucleotide variant not provided [RCV002671023] Chr3:53718732 [GRCh38]
Chr3:53752759 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4690+5G>A single nucleotide variant not provided [RCV002857767] Chr3:53780133 [GRCh38]
Chr3:53814160 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.101T>C (p.Leu34Pro) single nucleotide variant not provided [RCV003028302] Chr3:53497185 [GRCh38]
Chr3:53531212 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2401A>C (p.Asn801His) single nucleotide variant not provided [RCV002746303] Chr3:53731141 [GRCh38]
Chr3:53765168 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4491-3C>T single nucleotide variant not provided [RCV003027425] Chr3:53776857 [GRCh38]
Chr3:53810884 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4391T>C (p.Met1464Thr) single nucleotide variant not provided [RCV002717196] Chr3:53776631 [GRCh38]
Chr3:53810658 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1884A>G (p.Lys628=) single nucleotide variant not provided [RCV002630872] Chr3:53723651 [GRCh38]
Chr3:53757678 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1957C>T (p.Leu653=) single nucleotide variant not provided [RCV002577330] Chr3:53723856 [GRCh38]
Chr3:53757883 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1842G>A (p.Gly614=) single nucleotide variant not provided [RCV002646980]|not specified [RCV003479439] Chr3:53723609 [GRCh38]
Chr3:53757636 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5254A>G (p.Thr1752Ala) single nucleotide variant not provided [RCV002834870] Chr3:53801271 [GRCh38]
Chr3:53835298 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1704C>T (p.Cys568=) single nucleotide variant not provided [RCV003091161] Chr3:53723471 [GRCh38]
Chr3:53757498 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.919+5G>A single nucleotide variant not provided [RCV002963393] Chr3:53665817 [GRCh38]
Chr3:53699844 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3400A>G (p.Ile1134Val) single nucleotide variant not provided [RCV002635028] Chr3:53749353 [GRCh38]
Chr3:53783380 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3787-15G>A single nucleotide variant not provided [RCV002635220] Chr3:53761983 [GRCh38]
Chr3:53796010 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4044+18G>A single nucleotide variant not provided [RCV003049583] Chr3:53770570 [GRCh38]
Chr3:53804597 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.253C>T (p.Arg85Cys) single nucleotide variant not provided [RCV002653973] Chr3:53497337 [GRCh38]
Chr3:53531364 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3645C>G (p.Ile1215Met) single nucleotide variant not provided [RCV002658054] Chr3:53751877 [GRCh38]
Chr3:53785904 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.179C>T (p.Ala60Val) single nucleotide variant not provided [RCV003050261] Chr3:53497263 [GRCh38]
Chr3:53531290 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1455C>G (p.Asn485Lys) single nucleotide variant Inborn genetic diseases [RCV002635934]|not provided [RCV002635933] Chr3:53718365 [GRCh38]
Chr3:53752392 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3006+20C>T single nucleotide variant not provided [RCV002654081] Chr3:53744847 [GRCh38]
Chr3:53778874 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5325G>C (p.Gly1775=) single nucleotide variant not provided [RCV002605065] Chr3:53801342 [GRCh38]
Chr3:53835369 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2919-18T>C single nucleotide variant not provided [RCV002584317] Chr3:53744722 [GRCh38]
Chr3:53778749 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2297AAG[2] (p.Glu768del) microsatellite not provided [RCV002814435] Chr3:53730517..53730519 [GRCh38]
Chr3:53764544..53764546 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4169A>G (p.Gln1390Arg) single nucleotide variant not provided [RCV002653599] Chr3:53774645 [GRCh38]
Chr3:53808672 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5643C>G (p.Pro1881=) single nucleotide variant not provided [RCV002654230] Chr3:53805040 [GRCh38]
Chr3:53839067 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5268C>T (p.Ala1756=) single nucleotide variant not provided [RCV002635949] Chr3:53801285 [GRCh38]
Chr3:53835312 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.980C>T (p.Thr327Ile) single nucleotide variant not provided [RCV002583903] Chr3:53666399 [GRCh38]
Chr3:53700426 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2812-6T>C single nucleotide variant not provided [RCV002721459] Chr3:53743005 [GRCh38]
Chr3:53777032 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5853G>A (p.Leu1951=) single nucleotide variant not provided [RCV002653959] Chr3:53808752 [GRCh38]
Chr3:53842779 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2643G>A (p.Lys881=) single nucleotide variant not provided [RCV002942219] Chr3:53735395 [GRCh38]
Chr3:53769422 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3000A>C (p.Gly1000=) single nucleotide variant not provided [RCV002604204] Chr3:53744821 [GRCh38]
Chr3:53778848 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.218C>T (p.Ala73Val) single nucleotide variant not provided [RCV002942450] Chr3:53497302 [GRCh38]
Chr3:53531329 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2315A>T (p.Lys772Met) single nucleotide variant not provided [RCV002676817] Chr3:53730535 [GRCh38]
Chr3:53764562 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1672G>T (p.Ala558Ser) single nucleotide variant not provided [RCV002609158] Chr3:53723439 [GRCh38]
Chr3:53757466 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.288C>T (p.Asn96=) single nucleotide variant not provided [RCV002676900] Chr3:53497372 [GRCh38]
Chr3:53531399 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.846C>T (p.Ile282=) single nucleotide variant not provided [RCV002585735] Chr3:53665739 [GRCh38]
Chr3:53699766 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.484-17T>A single nucleotide variant not provided [RCV002608298] Chr3:53650762 [GRCh38]
Chr3:53684789 [GRCh37]
Chr3:3p21.1		 likely benign
NM_000720.4(CACNA1D):c.1146A>G (p.Pro382=) single nucleotide variant not provided [RCV002588795] Chr3:53673742 [GRCh38]
Chr3:53707769 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.687C>T (p.Gly229=) single nucleotide variant not provided [RCV002681073] Chr3:53660196 [GRCh38]
Chr3:53694223 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2818A>G (p.Thr940Ala) single nucleotide variant not provided [RCV002585923] Chr3:53743017 [GRCh38]
Chr3:53777044 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2100+16A>G single nucleotide variant not provided [RCV002609679] Chr3:53724015 [GRCh38]
Chr3:53758042 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4876G>A (p.Gly1626Arg) single nucleotide variant not provided [RCV002585940] Chr3:53786905 [GRCh38]
Chr3:53820932 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2382C>T (p.Asn794=) single nucleotide variant CACNA1D-related condition [RCV003903744]|not provided [RCV002605779] Chr3:53731122 [GRCh38]
Chr3:53765149 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2706C>G (p.Ala902=) single nucleotide variant not provided [RCV002585985] Chr3:53735458 [GRCh38]
Chr3:53769485 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3376G>A (p.Val1126Met) single nucleotide variant not provided [RCV003072988] Chr3:53749329 [GRCh38]
Chr3:53783356 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1037A>G (p.Asn346Ser) single nucleotide variant not provided [RCV002584428] Chr3:53666456 [GRCh38]
Chr3:53700483 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3237C>G (p.Asn1079Lys) single nucleotide variant not provided [RCV002604077] Chr3:53747371 [GRCh38]
Chr3:53781398 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2988C>T (p.Asn996=) single nucleotide variant not provided [RCV002605314] Chr3:53744809 [GRCh38]
Chr3:53778836 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1390A>G (p.Thr464Ala) single nucleotide variant not provided [RCV002653248] Chr3:53702810 [GRCh38]
Chr3:53736837 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3772G>A (p.Ala1258Thr) single nucleotide variant not provided [RCV002587182] Chr3:53753668 [GRCh38]
Chr3:53787695 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3258C>T (p.Asn1086=) single nucleotide variant not provided [RCV002590033] Chr3:53747392 [GRCh38]
Chr3:53781419 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2614A>G (p.Thr872Ala) single nucleotide variant not provided [RCV003052119] Chr3:53732955 [GRCh38]
Chr3:53766982 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1041T>C (p.Phe347=) single nucleotide variant not provided [RCV003072182] Chr3:53666460 [GRCh38]
Chr3:53700487 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.528A>G (p.Thr176=) single nucleotide variant not provided [RCV002680801] Chr3:53650823 [GRCh38]
Chr3:53684850 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4095G>C (p.Ala1365=) single nucleotide variant not provided [RCV002606185] Chr3:53772883 [GRCh38]
Chr3:53806910 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4995C>T (p.Asp1665=) single nucleotide variant not provided [RCV002607115] Chr3:53800320 [GRCh38]
Chr3:53834347 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.6192+19C>A single nucleotide variant not provided [RCV002653901] Chr3:53810317 [GRCh38]
Chr3:53844344 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3916-10A>G single nucleotide variant not provided [RCV002587346] Chr3:53770414 [GRCh38]
Chr3:53804441 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.732G>T (p.Val244=) single nucleotide variant not provided [RCV002587403] Chr3:53660241 [GRCh38]
Chr3:53694268 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.150C>T (p.Val50=) single nucleotide variant not provided [RCV002676899] Chr3:53497234 [GRCh38]
Chr3:53531261 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1667-17C>G single nucleotide variant not provided [RCV002590281] Chr3:53723417 [GRCh38]
Chr3:53757444 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3188A>C (p.Lys1063Thr) single nucleotide variant not provided [RCV002582533] Chr3:53747322 [GRCh38]
Chr3:53781349 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3557G>A (p.Arg1186Gln) single nucleotide variant not provided [RCV002588548] Chr3:53751789 [GRCh38]
Chr3:53785816 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1439G>A (p.Ser480Asn) single nucleotide variant not provided [RCV002613138] Chr3:53718349 [GRCh38]
Chr3:53752376 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1233G>A (p.Lys411=) single nucleotide variant not provided [RCV003092661] Chr3:53702653 [GRCh38]
Chr3:53736680 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.6205G>A (p.Glu2069Lys) single nucleotide variant not provided [RCV002634838] Chr3:53811125 [GRCh38]
Chr3:53845152 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1469G>A (p.Gly490Glu) single nucleotide variant not provided [RCV002606068] Chr3:53718379 [GRCh38]
Chr3:53752406 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1457G>A (p.Arg486Gln) single nucleotide variant not provided [RCV002589159] Chr3:53718367 [GRCh38]
Chr3:53752394 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5688G>A (p.Ser1896=) single nucleotide variant not provided [RCV002725244] Chr3:53805085 [GRCh38]
Chr3:53839112 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3762G>A (p.Leu1254=) single nucleotide variant not provided [RCV002680972] Chr3:53753658 [GRCh38]
Chr3:53787685 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1390+19G>T single nucleotide variant not provided [RCV002725315] Chr3:53702829 [GRCh38]
Chr3:53736856 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3355G>A (p.Gly1119Ser) single nucleotide variant not provided [RCV002585775] Chr3:53749308 [GRCh38]
Chr3:53783335 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2523C>T (p.Ala841=) single nucleotide variant not provided [RCV002676735] Chr3:53732864 [GRCh38]
Chr3:53766891 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1391-5C>T single nucleotide variant not provided [RCV002612351] Chr3:53718296 [GRCh38]
Chr3:53752323 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5993C>T (p.Thr1998Ile) single nucleotide variant not provided [RCV002586140] Chr3:53810099 [GRCh38]
Chr3:53844126 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5586-19C>T single nucleotide variant not provided [RCV002590113] Chr3:53804964 [GRCh38]
Chr3:53838991 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.6081C>T (p.Asp2027=) single nucleotide variant not provided [RCV003067547] Chr3:53810187 [GRCh38]
Chr3:53844214 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3376G>T (p.Val1126Leu) single nucleotide variant not provided [RCV002607028] Chr3:53749329 [GRCh38]
Chr3:53783356 [GRCh37]
Chr3:3p21.1		 likely benign|conflicting interpretations of pathogenicity
NM_001128840.3(CACNA1D):c.4490+10A>G single nucleotide variant not provided [RCV002610756] Chr3:53776740 [GRCh38]
Chr3:53810767 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5801A>T (p.Gln1934Leu) single nucleotide variant not provided [RCV003328036] Chr3:53808700 [GRCh38]
Chr3:53842727 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3305dup (p.Trp1103fs) duplication not provided [RCV003229128] Chr3:53747436..53747437 [GRCh38]
Chr3:53781463..53781464 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.661A>G (p.Thr221Ala) single nucleotide variant not provided [RCV003229306] Chr3:53660170 [GRCh38]
Chr3:53694197 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3956G>A (p.Arg1319His) single nucleotide variant not provided [RCV003223863] Chr3:53770464 [GRCh38]
Chr3:53804491 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.235T>A (p.Ser79Thr) single nucleotide variant Inborn genetic diseases [RCV003195194] Chr3:53497319 [GRCh38]
Chr3:53531346 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2251G>A (p.Ala751Thr) single nucleotide variant not provided [RCV003223929] Chr3:53730471 [GRCh38]
Chr3:53764498 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3728T>C (p.Val1243Ala) single nucleotide variant Inborn genetic diseases [RCV003220853] Chr3:53753624 [GRCh38]
Chr3:53787651 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3544G>A (p.Ala1182Thr) single nucleotide variant not provided [RCV003143900] Chr3:53751776 [GRCh38]
Chr3:53785803 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3253G>A (p.Asp1085Asn) single nucleotide variant not provided [RCV003143901] Chr3:53747387 [GRCh38]
Chr3:53781414 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2474-2A>C single nucleotide variant not provided [RCV003143902] Chr3:53732813 [GRCh38]
Chr3:53766840 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5725C>T (p.Arg1909Cys) single nucleotide variant not provided [RCV003143903] Chr3:53805122 [GRCh38]
Chr3:53839149 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3217C>A (p.Arg1073Ser) single nucleotide variant not provided [RCV003143904] Chr3:53747351 [GRCh38]
Chr3:53781378 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2155G>A (p.Gly719Arg) single nucleotide variant not provided [RCV003143905] Chr3:53726933 [GRCh38]
Chr3:53760960 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4000del (p.Glu1334fs) deletion not provided [RCV003143906] Chr3:53770503 [GRCh38]
Chr3:53804530 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2919-6C>T single nucleotide variant not provided [RCV003143907] Chr3:53744734 [GRCh38]
Chr3:53778761 [GRCh37]
Chr3:3p21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001128840.3(CACNA1D):c.3061G>A (p.Val1021Ile) single nucleotide variant not provided [RCV003143909] Chr3:53745678 [GRCh38]
Chr3:53779705 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3631A>C (p.Met1211Leu) single nucleotide variant not provided [RCV003143899] Chr3:53751863 [GRCh38]
Chr3:53785890 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6279C>A (p.Asp2093Glu) single nucleotide variant Aldosterone-producing adenoma with seizures and neurological abnormalities [RCV003142537] Chr3:53811199 [GRCh38]
Chr3:53845226 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2534C>T (p.Pro845Leu) single nucleotide variant not provided [RCV003227181] Chr3:53732875 [GRCh38]
Chr3:53766902 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3119A>G (p.Lys1040Arg) single nucleotide variant Aldosterone-producing adenoma with seizures and neurological abnormalities [RCV003140524] Chr3:53745827 [GRCh38]
Chr3:53779854 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3614C>A (p.Ser1205Ter) single nucleotide variant not provided [RCV003228284] Chr3:53751846 [GRCh38]
Chr3:53785873 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3560G>A (p.Arg1187Lys) single nucleotide variant Inborn genetic diseases [RCV003308914] Chr3:53751792 [GRCh38]
Chr3:53785819 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.511A>G (p.Ile171Val) single nucleotide variant not provided [RCV003319127] Chr3:53650806 [GRCh38]
Chr3:53684833 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2621+1G>A single nucleotide variant not provided [RCV003324480] Chr3:53732963 [GRCh38]
Chr3:53766990 [GRCh37]
Chr3:3p21.1		 uncertain significance|not provided
NM_001128840.3(CACNA1D):c.745C>T (p.Arg249Ter) single nucleotide variant not provided [RCV003319137] Chr3:53660254 [GRCh38]
Chr3:53694281 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6286A>G (p.Ile2096Val) single nucleotide variant Aldosterone-producing adenoma with seizures and neurological abnormalities [RCV003330277] Chr3:53811206 [GRCh38]
Chr3:53845233 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.776T>A (p.Val259Asp) single nucleotide variant not provided [RCV003329183] Chr3:53665669 [GRCh38]
Chr3:53699696 [GRCh37]
Chr3:3p21.1		 pathogenic
NM_001128840.3(CACNA1D):c.1348C>T (p.Pro450Ser) single nucleotide variant not provided [RCV003329705] Chr3:53702768 [GRCh38]
Chr3:53736795 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5411C>T (p.Thr1804Ile) single nucleotide variant not provided [RCV003328855] Chr3:53802149 [GRCh38]
Chr3:53836176 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6115G>C (p.Ala2039Pro) single nucleotide variant Aldosterone-producing adenoma with seizures and neurological abnormalities [RCV003338910] Chr3:53810221 [GRCh38]
Chr3:53844248 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4333A>G (p.Ile1445Val) single nucleotide variant not provided [RCV003332780] Chr3:53776016 [GRCh38]
Chr3:53810043 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6300G>A (p.Glu2100=) single nucleotide variant not provided [RCV003872991] Chr3:53811220 [GRCh38]
Chr3:53845247 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3516+13C>T single nucleotide variant not provided [RCV003826667] Chr3:53749482 [GRCh38]
Chr3:53783509 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.624-9T>C single nucleotide variant not provided [RCV003875320] Chr3:53660124 [GRCh38]
Chr3:53694151 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2811+17G>C single nucleotide variant not provided [RCV003875628] Chr3:53740356 [GRCh38]
Chr3:53774383 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1220+700C>A single nucleotide variant not provided [RCV003569685] Chr3:53673826 [GRCh38]
Chr3:53707853 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2515G>C (p.Val839Leu) single nucleotide variant not provided [RCV003543118] Chr3:53732856 [GRCh38]
Chr3:53766883 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3180C>G (p.Ile1060Met) single nucleotide variant not provided [RCV003686372] Chr3:53747314 [GRCh38]
Chr3:53781341 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4996G>A (p.Glu1666Lys) single nucleotide variant not provided [RCV003874418] Chr3:53800321 [GRCh38]
Chr3:53834348 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_000720.4(CACNA1D):c.1512G>A (p.Ala504=) single nucleotide variant not provided [RCV003873618] Chr3:53718715 [GRCh38]
Chr3:53752742 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5707C>T (p.Arg1903Trp) single nucleotide variant not provided [RCV003873640] Chr3:53805104 [GRCh38]
Chr3:53839131 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3030G>A (p.Val1010=) single nucleotide variant not provided [RCV003571531] Chr3:53745647 [GRCh38]
Chr3:53779674 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3224G>A (p.Arg1075Gln) single nucleotide variant not provided [RCV003571044] Chr3:53747358 [GRCh38]
Chr3:53781385 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.678C>T (p.His226=) single nucleotide variant not provided [RCV003875468] Chr3:53660187 [GRCh38]
Chr3:53694214 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3549T>G (p.Arg1183=) single nucleotide variant not provided [RCV003874900] Chr3:53751781 [GRCh38]
Chr3:53785808 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5594A>G (p.Tyr1865Cys) single nucleotide variant not provided [RCV003873053] Chr3:53804991 [GRCh38]
Chr3:53839018 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5516G>T (p.Cys1839Phe) single nucleotide variant not provided [RCV003686452] Chr3:53803503 [GRCh38]
Chr3:53837530 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6100C>G (p.Arg2034Gly) single nucleotide variant not provided [RCV003686373] Chr3:53810206 [GRCh38]
Chr3:53844233 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1667-16C>A single nucleotide variant not provided [RCV003569255] Chr3:53723418 [GRCh38]
Chr3:53757445 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1413T>C (p.Thr471=) single nucleotide variant not provided [RCV003872702] Chr3:53718323 [GRCh38]
Chr3:53752350 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5752C>G (p.His1918Asp) single nucleotide variant not provided [RCV003437877] Chr3:53808651 [GRCh38]
Chr3:53842678 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5629G>A (p.Asp1877Asn) single nucleotide variant not specified [RCV003479875] Chr3:53805026 [GRCh38]
Chr3:53839053 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1345G>A (p.Asp449Asn) single nucleotide variant CACNA1D-related condition [RCV003404366] Chr3:53702765 [GRCh38]
Chr3:53736792 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2530C>T (p.Arg844Cys) single nucleotide variant CACNA1D-related condition [RCV003400115] Chr3:53732871 [GRCh38]
Chr3:53766898 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5641C>A (p.Pro1881Thr) single nucleotide variant not provided [RCV003442328] Chr3:53805038 [GRCh38]
Chr3:53839065 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5180C>T (p.Pro1727Leu) single nucleotide variant not provided [RCV003825562] Chr3:53801197 [GRCh38]
Chr3:53835224 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1667-1G>C single nucleotide variant not provided [RCV003433633] Chr3:53723433 [GRCh38]
Chr3:53757460 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6374G>A (p.Arg2125Gln) single nucleotide variant CACNA1D-related condition [RCV003419082] Chr3:53811294 [GRCh38]
Chr3:53845321 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2354A>G (p.Asn785Ser) single nucleotide variant CACNA1D-related condition [RCV003421150]|not provided [RCV003553932] Chr3:53731094 [GRCh38]
Chr3:53765121 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5689C>G (p.Pro1897Ala) single nucleotide variant CACNA1D-related condition [RCV003416672] Chr3:53805086 [GRCh38]
Chr3:53839113 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2520T>C (p.Pro840=) single nucleotide variant not provided [RCV003437876] Chr3:53732861 [GRCh38]
Chr3:53766888 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1067C>G (p.Thr356Ser) single nucleotide variant CACNA1D-related condition [RCV003416700] Chr3:53666486 [GRCh38]
Chr3:53700513 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1262A>G (p.Asp421Gly) single nucleotide variant CACNA1D-related condition [RCV003414374] Chr3:53702682 [GRCh38]
Chr3:53736709 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5367C>G (p.His1789Gln) single nucleotide variant CACNA1D-related condition [RCV003400378] Chr3:53801384 [GRCh38]
Chr3:53835411 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4751C>G (p.Thr1584Ser) single nucleotide variant CACNA1D-related condition [RCV003406260] Chr3:53781626 [GRCh38]
Chr3:53815653 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6127G>A (p.Val2043Ile) single nucleotide variant not provided [RCV003713306] Chr3:53810233 [GRCh38]
Chr3:53844260 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.919+13A>T single nucleotide variant not provided [RCV003661515] Chr3:53665825 [GRCh38]
Chr3:53699852 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.920-18T>C single nucleotide variant not provided [RCV003696494] Chr3:53666321 [GRCh38]
Chr3:53700348 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2340A>G (p.Lys780=) single nucleotide variant not provided [RCV003849281] Chr3:53731080 [GRCh38]
Chr3:53765107 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4588-19C>T single nucleotide variant not provided [RCV003827138] Chr3:53780007 [GRCh38]
Chr3:53814034 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2500G>A (p.Glu834Lys) single nucleotide variant not provided [RCV003740209] Chr3:53732841 [GRCh38]
Chr3:53766868 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5028T>A (p.Asp1676Glu) single nucleotide variant not provided [RCV003849229] Chr3:53800353 [GRCh38]
Chr3:53834380 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6357G>C (p.Val2119=) single nucleotide variant not provided [RCV003695882] Chr3:53811277 [GRCh38]
Chr3:53845304 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1758T>C (p.Leu586=) single nucleotide variant not provided [RCV003691334] Chr3:53723525 [GRCh38]
Chr3:53757552 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3282C>T (p.Leu1094=) single nucleotide variant not provided [RCV003716543] Chr3:53747416 [GRCh38]
Chr3:53781443 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5408+9G>A single nucleotide variant not provided [RCV003828759] Chr3:53801434 [GRCh38]
Chr3:53835461 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4561T>G (p.Leu1521Val) single nucleotide variant not provided [RCV003695140] Chr3:53776930 [GRCh38]
Chr3:53810957 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1220+701G>T single nucleotide variant not provided [RCV003662319] Chr3:53673827 [GRCh38]
Chr3:53707854 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3801C>G (p.Asp1267Glu) single nucleotide variant not provided [RCV003715465] Chr3:53762012 [GRCh38]
Chr3:53796039 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4587+8T>A single nucleotide variant not provided [RCV003695904] Chr3:53776964 [GRCh38]
Chr3:53810991 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3314+10G>A single nucleotide variant not provided [RCV003577548] Chr3:53747458 [GRCh38]
Chr3:53781485 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.377+10T>C single nucleotide variant not provided [RCV003577625] Chr3:53497471 [GRCh38]
Chr3:53531498 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.380C>T (p.Pro127Leu) single nucleotide variant not provided [RCV003714980] Chr3:53501617 [GRCh38]
Chr3:53535644 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1221-17C>T single nucleotide variant not provided [RCV003693649] Chr3:53702624 [GRCh38]
Chr3:53736651 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1765C>T (p.Arg589Trp) single nucleotide variant not provided [RCV003778492] Chr3:53723532 [GRCh38]
Chr3:53757559 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5029G>A (p.Asp1677Asn) single nucleotide variant not provided [RCV003572295] Chr3:53800354 [GRCh38]
Chr3:53834381 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4910C>T (p.Thr1637Ile) single nucleotide variant not provided [RCV003572977] Chr3:53786939 [GRCh38]
Chr3:53820966 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1912A>G (p.Asn638Asp) single nucleotide variant not provided [RCV003827504] Chr3:53723811 [GRCh38]
Chr3:53757838 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2992G>A (p.Ala998Thr) single nucleotide variant not provided [RCV003713825] Chr3:53744813 [GRCh38]
Chr3:53778840 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3828C>T (p.Ile1276=) single nucleotide variant not provided [RCV003881234] Chr3:53762039 [GRCh38]
Chr3:53796066 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2736C>T (p.His912=) single nucleotide variant not provided [RCV003663178] Chr3:53735488 [GRCh38]
Chr3:53769515 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.6371A>G (p.His2124Arg) single nucleotide variant not provided [RCV003694371] Chr3:53811291 [GRCh38]
Chr3:53845318 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5975A>G (p.Asp1992Gly) single nucleotide variant not provided [RCV003688306] Chr3:53810081 [GRCh38]
Chr3:53844108 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.36T>C (p.His12=) single nucleotide variant not provided [RCV003693261] Chr3:53495202 [GRCh38]
Chr3:53529229 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3675+19G>A single nucleotide variant not provided [RCV003827061] Chr3:53751926 [GRCh38]
Chr3:53785953 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2619C>T (p.Asn873=) single nucleotide variant not provided [RCV003688585] Chr3:53732960 [GRCh38]
Chr3:53766987 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5900G>A (p.Ser1967Asn) single nucleotide variant not provided [RCV003692220] Chr3:53810006 [GRCh38]
Chr3:53844033 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3115-4C>T single nucleotide variant not provided [RCV003695315] Chr3:53745819 [GRCh38]
Chr3:53779846 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3127C>G (p.Arg1043Gly) single nucleotide variant not provided [RCV003691617] Chr3:53745835 [GRCh38]
Chr3:53779862 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_000720.4(CACNA1D):c.1188C>T (p.Phe396=) single nucleotide variant not provided [RCV003882385] Chr3:53673784 [GRCh38]
Chr3:53707811 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5677G>T (p.Asp1893Tyr) single nucleotide variant not provided [RCV003686903] Chr3:53805074 [GRCh38]
Chr3:53839101 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5699A>C (p.Tyr1900Ser) single nucleotide variant not provided [RCV003547393] Chr3:53805096 [GRCh38]
Chr3:53839123 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4110+12C>T single nucleotide variant not provided [RCV003714886] Chr3:53772910 [GRCh38]
Chr3:53806937 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2531G>A (p.Arg844His) single nucleotide variant not provided [RCV003662468] Chr3:53732872 [GRCh38]
Chr3:53766899 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.475C>T (p.His159Tyr) single nucleotide variant not provided [RCV003878791] Chr3:53501712 [GRCh38]
Chr3:53535739 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1740A>C (p.Gln580His) single nucleotide variant not provided [RCV003691001] Chr3:53723507 [GRCh38]
Chr3:53757534 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1220+707G>T single nucleotide variant not provided [RCV003716699] Chr3:53673833 [GRCh38]
Chr3:53707860 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5831C>A (p.Pro1944His) single nucleotide variant not provided [RCV003716716] Chr3:53808730 [GRCh38]
Chr3:53842757 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4471G>A (p.Glu1491Lys) single nucleotide variant not provided [RCV003692773] Chr3:53776711 [GRCh38]
Chr3:53810738 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4726G>A (p.Val1576Met) single nucleotide variant not provided [RCV003876761] Chr3:53781601 [GRCh38]
Chr3:53815628 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.62C>G (p.Ala21Gly) single nucleotide variant not provided [RCV003574303] Chr3:53495228 [GRCh38]
Chr3:53529255 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.920-17G>C single nucleotide variant not provided [RCV003831013] Chr3:53666322 [GRCh38]
Chr3:53700349 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4516G>A (p.Val1506Ile) single nucleotide variant not provided [RCV003577293] Chr3:53776885 [GRCh38]
Chr3:53810912 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3115-1G>A single nucleotide variant not provided [RCV003578316] Chr3:53745822 [GRCh38]
Chr3:53779849 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4515G>C (p.Val1505=) single nucleotide variant not provided [RCV003661296] Chr3:53776884 [GRCh38]
Chr3:53810911 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.484-18C>G single nucleotide variant not provided [RCV003578895] Chr3:53650761 [GRCh38]
Chr3:53684788 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5871+13C>T single nucleotide variant not provided [RCV003882417] Chr3:53808783 [GRCh38]
Chr3:53842810 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2337-8C>G single nucleotide variant not provided [RCV003578518] Chr3:53731069 [GRCh38]
Chr3:53765096 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5955A>C (p.Pro1985=) single nucleotide variant not provided [RCV003574557] Chr3:53810061 [GRCh38]
Chr3:53844088 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4548G>A (p.Leu1516=) single nucleotide variant not provided [RCV003578222] Chr3:53776917 [GRCh38]
Chr3:53810944 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2624T>A (p.Ile875Asn) single nucleotide variant not provided [RCV003694279] Chr3:53735376 [GRCh38]
Chr3:53769403 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4194G>T (p.Leu1398=) single nucleotide variant not provided [RCV003666075] Chr3:53774670 [GRCh38]
Chr3:53808697 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.6280C>T (p.Leu2094Phe) single nucleotide variant not provided [RCV003692224] Chr3:53811200 [GRCh38]
Chr3:53845227 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5031T>C (p.Asp1677=) single nucleotide variant not provided [RCV003659835] Chr3:53800356 [GRCh38]
Chr3:53834383 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2239T>C (p.Phe747Leu) single nucleotide variant Congenital disorder of glycosylation, type Iw, autosomal dominant [RCV003493390] Chr3:53730459 [GRCh38]
Chr3:53764486 [GRCh37]
Chr3:3p21.1		 pathogenic
NM_001128840.3(CACNA1D):c.2200A>G (p.Ile734Val) single nucleotide variant not provided [RCV003547280] Chr3:53726978 [GRCh38]
Chr3:53761005 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.183A>G (p.Arg61=) single nucleotide variant not provided [RCV003826671] Chr3:53497267 [GRCh38]
Chr3:53531294 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3225G>A (p.Arg1075=) single nucleotide variant not provided [RCV003880170] Chr3:53747359 [GRCh38]
Chr3:53781386 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4588-12T>C single nucleotide variant not provided [RCV003690436] Chr3:53780014 [GRCh38]
Chr3:53814041 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.6192+8C>G single nucleotide variant not provided [RCV003687769] Chr3:53810306 [GRCh38]
Chr3:53844333 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1060A>T (p.Met354Leu) single nucleotide variant not provided [RCV003691269] Chr3:53666479 [GRCh38]
Chr3:53700506 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5816C>T (p.Ser1939Leu) single nucleotide variant not provided [RCV003712904] Chr3:53808715 [GRCh38]
Chr3:53842742 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2090C>T (p.Thr697Ile) single nucleotide variant not provided [RCV003686629] Chr3:53723989 [GRCh38]
Chr3:53758016 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4488A>G (p.Ala1496=) single nucleotide variant not provided [RCV003827827] Chr3:53776728 [GRCh38]
Chr3:53810755 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4690+18G>A single nucleotide variant not provided [RCV003828512] Chr3:53780146 [GRCh38]
Chr3:53814173 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4587+16G>C single nucleotide variant not provided [RCV003662481] Chr3:53776972 [GRCh38]
Chr3:53810999 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3517-7G>A single nucleotide variant not provided [RCV003688817] Chr3:53751742 [GRCh38]
Chr3:53785769 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2304A>C (p.Glu768Asp) single nucleotide variant not provided [RCV003572399] Chr3:53730524 [GRCh38]
Chr3:53764551 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6415G>A (p.Asp2139Asn) single nucleotide variant not provided [RCV003665742] Chr3:53811335 [GRCh38]
Chr3:53845362 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4491-7C>T single nucleotide variant not provided [RCV003850318] Chr3:53776853 [GRCh38]
Chr3:53810880 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3984G>A (p.Lys1328=) single nucleotide variant not provided [RCV003812154] Chr3:53770492 [GRCh38]
Chr3:53804519 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3916-11T>C single nucleotide variant not provided [RCV003851414] Chr3:53770413 [GRCh38]
Chr3:53804440 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3357C>T (p.Gly1119=) single nucleotide variant not provided [RCV003850464] Chr3:53749310 [GRCh38]
Chr3:53783337 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2457G>C (p.Pro819=) single nucleotide variant not provided [RCV003580787] Chr3:53732066 [GRCh38]
Chr3:53766093 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4690+7A>C single nucleotide variant not provided [RCV003659107] Chr3:53780135 [GRCh38]
Chr3:53814162 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5711G>T (p.Arg1904Ile) single nucleotide variant not provided [RCV003849503] Chr3:53805108 [GRCh38]
Chr3:53839135 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5970C>T (p.Tyr1990=) single nucleotide variant not provided [RCV003811569] Chr3:53810076 [GRCh38]
Chr3:53844103 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4911A>G (p.Thr1637=) single nucleotide variant not provided [RCV003579846] Chr3:53786940 [GRCh38]
Chr3:53820967 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2471C>T (p.Pro824Leu) single nucleotide variant not provided [RCV003581050] Chr3:53732080 [GRCh38]
Chr3:53766107 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2773G>T (p.Ala925Ser) single nucleotide variant not provided [RCV003834438] Chr3:53740301 [GRCh38]
Chr3:53774328 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3315-8C>T single nucleotide variant not provided [RCV003580237] Chr3:53749260 [GRCh38]
Chr3:53783287 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4282A>G (p.Asn1428Asp) single nucleotide variant not provided [RCV003699499] Chr3:53775965 [GRCh38]
Chr3:53809992 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4449T>C (p.Asp1483=) single nucleotide variant not provided [RCV003835805] Chr3:53776689 [GRCh38]
Chr3:53810716 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.60C>A (p.His20Gln) single nucleotide variant not provided [RCV003549801] Chr3:53495226 [GRCh38]
Chr3:53529253 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5690C>T (p.Pro1897Leu) single nucleotide variant not provided [RCV003855964] Chr3:53805087 [GRCh38]
Chr3:53839114 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5436-9C>T single nucleotide variant not provided [RCV003851373] Chr3:53803414 [GRCh38]
Chr3:53837441 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3900A>G (p.Pro1300=) single nucleotide variant not provided [RCV003674504] Chr3:53770002 [GRCh38]
Chr3:53804029 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2914A>T (p.Ile972Phe) single nucleotide variant not provided [RCV003833459] Chr3:53743113 [GRCh38]
Chr3:53777140 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.441C>T (p.Ile147=) single nucleotide variant not provided [RCV003851961] Chr3:53501678 [GRCh38]
Chr3:53535705 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1572G>T (p.Thr524=) single nucleotide variant not provided [RCV003726805] Chr3:53722380 [GRCh38]
Chr3:53756407 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.128C>T (p.Pro43Leu) single nucleotide variant not provided [RCV003834506] Chr3:53497212 [GRCh38]
Chr3:53531239 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1666+13G>T single nucleotide variant not provided [RCV003855995] Chr3:53722487 [GRCh38]
Chr3:53756514 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1053C>G (p.Ala351=) single nucleotide variant not provided [RCV003664591] Chr3:53666472 [GRCh38]
Chr3:53700499 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1631A>T (p.His544Leu) single nucleotide variant not provided [RCV003665738] Chr3:53722439 [GRCh38]
Chr3:53756466 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2918+14G>A single nucleotide variant not provided [RCV003672817] Chr3:53743131 [GRCh38]
Chr3:53777158 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5996C>G (p.Pro1999Arg) single nucleotide variant not provided [RCV003674448] Chr3:53810102 [GRCh38]
Chr3:53844129 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3840C>T (p.Ser1280=) single nucleotide variant not provided [RCV003664734] Chr3:53762051 [GRCh38]
Chr3:53796078 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3787-16C>T single nucleotide variant not provided [RCV003674136] Chr3:53761982 [GRCh38]
Chr3:53796009 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5314C>T (p.Pro1772Ser) single nucleotide variant not provided [RCV003725779] Chr3:53801331 [GRCh38]
Chr3:53835358 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5471G>T (p.Cys1824Phe) single nucleotide variant not provided [RCV003580666] Chr3:53803458 [GRCh38]
Chr3:53837485 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1220+709G>A single nucleotide variant not provided [RCV003703035] Chr3:53673835 [GRCh38]
Chr3:53707862 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3373C>T (p.Arg1125Cys) single nucleotide variant not provided [RCV003674045] Chr3:53749326 [GRCh38]
Chr3:53783353 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.484-12T>A single nucleotide variant not provided [RCV003666690] Chr3:53650767 [GRCh38]
Chr3:53684794 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4793-19G>T single nucleotide variant not provided [RCV003703050] Chr3:53786803 [GRCh38]
Chr3:53820830 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2473+11G>A single nucleotide variant not provided [RCV003836081] Chr3:53732093 [GRCh38]
Chr3:53766120 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.279A>G (p.Lys93=) single nucleotide variant not provided [RCV003666232] Chr3:53497363 [GRCh38]
Chr3:53531390 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5435+10C>G single nucleotide variant not provided [RCV003855179] Chr3:53802183 [GRCh38]
Chr3:53836210 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5935C>G (p.Arg1979Gly) single nucleotide variant not provided [RCV003816378] Chr3:53810041 [GRCh38]
Chr3:53844068 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_000720.4(CACNA1D):c.1494G>A (p.Arg498=) single nucleotide variant not provided [RCV003833285] Chr3:53718697 [GRCh38]
Chr3:53752724 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1633T>C (p.Tyr545His) single nucleotide variant not provided [RCV003666502] Chr3:53722441 [GRCh38]
Chr3:53756468 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3315-10C>T single nucleotide variant not provided [RCV003702679] Chr3:53749258 [GRCh38]
Chr3:53783285 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1505+13T>C single nucleotide variant not provided [RCV003671586] Chr3:53719794 [GRCh38]
Chr3:53753821 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4950T>G (p.Ile1650Met) single nucleotide variant not provided [RCV003724874] Chr3:53800275 [GRCh38]
Chr3:53834302 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5259A>G (p.Ser1753=) single nucleotide variant not provided [RCV003672490] Chr3:53801276 [GRCh38]
Chr3:53835303 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1696T>C (p.Phe566Leu) single nucleotide variant not provided [RCV003673459] Chr3:53723463 [GRCh38]
Chr3:53757490 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.623+3A>G single nucleotide variant not provided [RCV003673436] Chr3:53650921 [GRCh38]
Chr3:53684948 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5726G>A (p.Arg1909His) single nucleotide variant not provided [RCV003669443] Chr3:53805123 [GRCh38]
Chr3:53839150 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4924-17C>T single nucleotide variant not provided [RCV003702780] Chr3:53800232 [GRCh38]
Chr3:53834259 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5266G>A (p.Ala1756Thr) single nucleotide variant not provided [RCV003837743] Chr3:53801283 [GRCh38]
Chr3:53835310 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6469T>C (p.Cys2157Arg) single nucleotide variant not provided [RCV003701095] Chr3:53811389 [GRCh38]
Chr3:53845416 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.685G>T (p.Gly229Cys) single nucleotide variant not provided [RCV003701248] Chr3:53660194 [GRCh38]
Chr3:53694221 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4750A>C (p.Thr1584Pro) single nucleotide variant not provided [RCV003852150] Chr3:53781625 [GRCh38]
Chr3:53815652 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2719G>A (p.Asp907Asn) single nucleotide variant not provided [RCV003855894] Chr3:53735471 [GRCh38]
Chr3:53769498 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.747A>G (p.Arg249=) single nucleotide variant not provided [RCV003703242] Chr3:53660256 [GRCh38]
Chr3:53694283 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1020G>A (p.Pro340=) single nucleotide variant not provided [RCV003817551] Chr3:53666439 [GRCh38]
Chr3:53700466 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.148G>C (p.Val50Leu) single nucleotide variant not provided [RCV003817224] Chr3:53497232 [GRCh38]
Chr3:53531259 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2812-16A>G single nucleotide variant not provided [RCV003703037] Chr3:53742995 [GRCh38]
Chr3:53777022 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5703T>C (p.Asp1901=) single nucleotide variant not provided [RCV003672110] Chr3:53805100 [GRCh38]
Chr3:53839127 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5937G>A (p.Arg1979=) single nucleotide variant not provided [RCV003550004] Chr3:53810043 [GRCh38]
Chr3:53844070 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.6429C>T (p.Asp2143=) single nucleotide variant not provided [RCV003668298] Chr3:53811349 [GRCh38]
Chr3:53845376 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.668G>A (p.Gly223Asp) single nucleotide variant not provided [RCV003854507] Chr3:53660177 [GRCh38]
Chr3:53694204 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6087C>T (p.Pro2029=) single nucleotide variant not provided [RCV003672097] Chr3:53810193 [GRCh38]
Chr3:53844220 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1892+16T>A single nucleotide variant not provided [RCV003666918] Chr3:53723675 [GRCh38]
Chr3:53757702 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1349C>T (p.Pro450Leu) single nucleotide variant not provided [RCV003838458] Chr3:53702769 [GRCh38]
Chr3:53736796 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5793G>C (p.Gln1931His) single nucleotide variant not provided [RCV003701078] Chr3:53808692 [GRCh38]
Chr3:53842719 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2621+16C>G single nucleotide variant not provided [RCV003832832] Chr3:53732978 [GRCh38]
Chr3:53767005 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5714C>G (p.Ser1905Cys) single nucleotide variant not provided [RCV003558353] Chr3:53805111 [GRCh38]
Chr3:53839138 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5637G>C (p.Glu1879Asp) single nucleotide variant not provided [RCV003700398] Chr3:53805034 [GRCh38]
Chr3:53839061 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3916-7C>T single nucleotide variant not provided [RCV003668092] Chr3:53770417 [GRCh38]
Chr3:53804444 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.377+13dup duplication not provided [RCV003854439] Chr3:53497467..53497468 [GRCh38]
Chr3:53531494..53531495 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.3007-6C>T single nucleotide variant not provided [RCV003816136] Chr3:53745618 [GRCh38]
Chr3:53779645 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3214G>T (p.Val1072Phe) single nucleotide variant not provided [RCV003665431] Chr3:53747348 [GRCh38]
Chr3:53781375 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2752-11G>A single nucleotide variant not provided [RCV003550060] Chr3:53740269 [GRCh38]
Chr3:53774296 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2423A>T (p.Tyr808Phe) single nucleotide variant not provided [RCV003701208] Chr3:53732032 [GRCh38]
Chr3:53766059 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5349T>A (p.Asn1783Lys) single nucleotide variant not provided [RCV003832039] Chr3:53801366 [GRCh38]
Chr3:53835393 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5427T>C (p.Thr1809=) single nucleotide variant not provided [RCV003668141] Chr3:53802165 [GRCh38]
Chr3:53836192 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5656C>A (p.His1886Asn) single nucleotide variant not provided [RCV003852194] Chr3:53805053 [GRCh38]
Chr3:53839080 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2743C>G (p.Arg915Gly) single nucleotide variant not provided [RCV003837595] Chr3:53735495 [GRCh38]
Chr3:53769522 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2321G>A (p.Arg774Lys) single nucleotide variant not provided [RCV003855385] Chr3:53730541 [GRCh38]
Chr3:53764568 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2406+3A>G single nucleotide variant not provided [RCV003559030] Chr3:53731149 [GRCh38]
Chr3:53765176 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5425A>G (p.Thr1809Ala) single nucleotide variant not provided [RCV003838558] Chr3:53802163 [GRCh38]
Chr3:53836190 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1506-4T>G single nucleotide variant not provided [RCV003658968] Chr3:53722310 [GRCh38]
Chr3:53756337 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.6438G>T (p.Arg2146Ser) single nucleotide variant not provided [RCV003716952] Chr3:53811358 [GRCh38]
Chr3:53845385 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2058C>G (p.Ser686Arg) single nucleotide variant not provided [RCV003834906] Chr3:53723957 [GRCh38]
Chr3:53757984 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3217C>T (p.Arg1073Cys) single nucleotide variant not provided [RCV003836134] Chr3:53747351 [GRCh38]
Chr3:53781378 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2221+2T>C single nucleotide variant not provided [RCV003702176] Chr3:53727001 [GRCh38]
Chr3:53761028 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.715del (p.Leu239fs) deletion not provided [RCV003702177] Chr3:53660222 [GRCh38]
Chr3:53694249 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1053C>T (p.Ala351=) single nucleotide variant not provided [RCV003836459] Chr3:53666472 [GRCh38]
Chr3:53700499 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.623+19G>A single nucleotide variant not provided [RCV003700904] Chr3:53650937 [GRCh38]
Chr3:53684964 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.6292G>A (p.Glu2098Lys) single nucleotide variant not provided [RCV003854688] Chr3:53811212 [GRCh38]
Chr3:53845239 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3114+18A>C single nucleotide variant not provided [RCV003551160] Chr3:53745749 [GRCh38]
Chr3:53779776 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2670C>T (p.Asn890=) single nucleotide variant not provided [RCV003711996] Chr3:53735422 [GRCh38]
Chr3:53769449 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2197A>G (p.Ile733Val) single nucleotide variant not provided [RCV003865823] Chr3:53726975 [GRCh38]
Chr3:53761002 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4111-13C>T single nucleotide variant not provided [RCV003679593] Chr3:53774574 [GRCh38]
Chr3:53808601 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5388G>C (p.Gln1796His) single nucleotide variant not provided [RCV003731297] Chr3:53801405 [GRCh38]
Chr3:53835432 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1479-15_1479-14del deletion not provided [RCV003564429] Chr3:53719737..53719738 [GRCh38]
Chr3:53753764..53753765 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5811C>A (p.Val1937=) single nucleotide variant not provided [RCV003819575] Chr3:53808710 [GRCh38]
Chr3:53842737 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1478+10G>A single nucleotide variant not provided [RCV003552003] Chr3:53718398 [GRCh38]
Chr3:53752425 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.6288C>T (p.Ile2096=) single nucleotide variant not provided [RCV003729303] Chr3:53811208 [GRCh38]
Chr3:53845235 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.72A>G (p.Ala24=) single nucleotide variant not provided [RCV003563284] Chr3:53497156 [GRCh38]
Chr3:53531183 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.388A>G (p.Ile130Val) single nucleotide variant not provided [RCV003859372] Chr3:53501625 [GRCh38]
Chr3:53535652 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2336+14C>A single nucleotide variant not provided [RCV003846580] Chr3:53730570 [GRCh38]
Chr3:53764597 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2100+7C>T single nucleotide variant not provided [RCV003859478] Chr3:53724006 [GRCh38]
Chr3:53758033 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5974G>C (p.Asp1992His) single nucleotide variant not provided [RCV003682094] Chr3:53810080 [GRCh38]
Chr3:53844107 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5565C>A (p.Asp1855Glu) single nucleotide variant not provided [RCV003675311] Chr3:53803552 [GRCh38]
Chr3:53837579 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3183C>G (p.Leu1061=) single nucleotide variant not provided [RCV003844147] Chr3:53747317 [GRCh38]
Chr3:53781344 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3598T>C (p.Tyr1200His) single nucleotide variant not provided [RCV003677170] Chr3:53751830 [GRCh38]
Chr3:53785857 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2647A>G (p.Ile883Val) single nucleotide variant not provided [RCV003846059] Chr3:53735399 [GRCh38]
Chr3:53769426 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1667-13T>A single nucleotide variant not provided [RCV003567382] Chr3:53723421 [GRCh38]
Chr3:53757448 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.900A>G (p.Thr300=) single nucleotide variant not provided [RCV003860615] Chr3:53665793 [GRCh38]
Chr3:53699820 [GRCh37]
Chr3:3p21.1		 likely benign
NM_000720.4(CACNA1D):c.1511C>T (p.Ala504Val) single nucleotide variant not provided [RCV003677335] Chr3:53718714 [GRCh38]
Chr3:53752741 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2752-7C>T single nucleotide variant not provided [RCV003846955] Chr3:53740273 [GRCh38]
Chr3:53774300 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2812-18C>G single nucleotide variant not provided [RCV003681362] Chr3:53742993 [GRCh38]
Chr3:53777020 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5840C>T (p.Thr1947Met) single nucleotide variant not provided [RCV003820229] Chr3:53808739 [GRCh38]
Chr3:53842766 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.195T>C (p.Ala65=) single nucleotide variant not provided [RCV003707143] Chr3:53497279 [GRCh38]
Chr3:53531306 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1363G>A (p.Glu455Lys) single nucleotide variant not provided [RCV003676726] Chr3:53702783 [GRCh38]
Chr3:53736810 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6246A>G (p.Ser2082=) single nucleotide variant not provided [RCV003843597] Chr3:53811166 [GRCh38]
Chr3:53845193 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.40C>T (p.Arg14Trp) single nucleotide variant not provided [RCV003859986] Chr3:53495206 [GRCh38]
Chr3:53529233 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.71C>G (p.Ala24Gly) single nucleotide variant not provided [RCV003864406] Chr3:53497155 [GRCh38]
Chr3:53531182 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.378-11C>A single nucleotide variant not provided [RCV003681487] Chr3:53501604 [GRCh38]
Chr3:53535631 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5409-20G>A single nucleotide variant not provided [RCV003563193] Chr3:53802127 [GRCh38]
Chr3:53836154 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5312G>A (p.Arg1771Gln) single nucleotide variant not provided [RCV003710843] Chr3:53801329 [GRCh38]
Chr3:53835356 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6323A>G (p.Asn2108Ser) single nucleotide variant not provided [RCV003864508] Chr3:53811243 [GRCh38]
Chr3:53845270 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4163A>C (p.Asn1388Thr) single nucleotide variant not provided [RCV003683114] Chr3:53774639 [GRCh38]
Chr3:53808666 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2751+19G>A single nucleotide variant not provided [RCV003840701] Chr3:53735522 [GRCh38]
Chr3:53769549 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1892+4A>G single nucleotide variant not provided [RCV003729458] Chr3:53723663 [GRCh38]
Chr3:53757690 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2590_2592del (p.Ser864del) deletion not provided [RCV003566241] Chr3:53732931..53732933 [GRCh38]
Chr3:53766958..53766960 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4280A>T (p.Tyr1427Phe) single nucleotide variant not provided [RCV003706911] Chr3:53775963 [GRCh38]
Chr3:53809990 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4884G>A (p.Val1628=) single nucleotide variant not provided [RCV003706912] Chr3:53786913 [GRCh38]
Chr3:53820940 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3855C>A (p.Ala1285=) single nucleotide variant not provided [RCV003677691] Chr3:53762066 [GRCh38]
Chr3:53796093 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1511G>A (p.Arg504His) single nucleotide variant not provided [RCV003734286] Chr3:53722319 [GRCh38]
Chr3:53756346 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3096C>T (p.Ile1032=) single nucleotide variant not provided [RCV003845943] Chr3:53745713 [GRCh38]
Chr3:53779740 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1505+15T>G single nucleotide variant not provided [RCV003708837] Chr3:53719796 [GRCh38]
Chr3:53753823 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4515G>A (p.Val1505=) single nucleotide variant not provided [RCV003734353] Chr3:53776884 [GRCh38]
Chr3:53810911 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4867A>G (p.Lys1623Glu) single nucleotide variant not provided [RCV003711833] Chr3:53786896 [GRCh38]
Chr3:53820923 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1034C>T (p.Thr345Ile) single nucleotide variant not provided [RCV003683012] Chr3:53666453 [GRCh38]
Chr3:53700480 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.339C>T (p.Asn113=) single nucleotide variant not provided [RCV003542840] Chr3:53497423 [GRCh38]
Chr3:53531450 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4923+11_4923+12del deletion not provided [RCV003863789] Chr3:53786962..53786963 [GRCh38]
Chr3:53820989..53820990 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.920-10C>G single nucleotide variant not provided [RCV003680904] Chr3:53666329 [GRCh38]
Chr3:53700356 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3405C>T (p.Tyr1135=) single nucleotide variant not provided [RCV003860951] Chr3:53749358 [GRCh38]
Chr3:53783385 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.6315C>A (p.Thr2105=) single nucleotide variant not provided [RCV003555420] Chr3:53811235 [GRCh38]
Chr3:53845262 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.205A>G (p.Met69Val) single nucleotide variant not provided [RCV003819171] Chr3:53497289 [GRCh38]
Chr3:53531316 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1449C>A (p.Gly483=) single nucleotide variant not provided [RCV003551591] Chr3:53718359 [GRCh38]
Chr3:53752386 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1023C>G (p.Asn341Lys) single nucleotide variant not provided [RCV003705093] Chr3:53666442 [GRCh38]
Chr3:53700469 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1890C>G (p.Thr630=) single nucleotide variant not provided [RCV003568356] Chr3:53723657 [GRCh38]
Chr3:53757684 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3787-2A>T single nucleotide variant not provided [RCV003719467] Chr3:53761996 [GRCh38]
Chr3:53796023 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4793-10C>G single nucleotide variant not provided [RCV003871038] Chr3:53786812 [GRCh38]
Chr3:53820839 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3884A>G (p.Glu1295Gly) single nucleotide variant not provided [RCV003565021] Chr3:53769986 [GRCh38]
Chr3:53804013 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6272C>A (p.Ala2091Asp) single nucleotide variant not provided [RCV003722563] Chr3:53811192 [GRCh38]
Chr3:53845219 [GRCh37]
Chr3:3p21.1		 uncertain significance
GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1 copy number loss not specified [RCV003986409] Chr3:51149374..59265315 [GRCh37]
Chr3:3p21.2-14.2		 pathogenic
NM_001128840.3(CACNA1D):c.2686A>G (p.Ile896Val) single nucleotide variant not provided [RCV003676023] Chr3:53735438 [GRCh38]
Chr3:53769465 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1221-11G>A single nucleotide variant not provided [RCV003706693] Chr3:53702630 [GRCh38]
Chr3:53736657 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4690+17A>T single nucleotide variant not provided [RCV003552235] Chr3:53780145 [GRCh38]
Chr3:53814172 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.416A>G (p.Asn139Ser) single nucleotide variant not provided [RCV003710320] Chr3:53501653 [GRCh38]
Chr3:53535680 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1869C>G (p.Leu623=) single nucleotide variant not provided [RCV003721173] Chr3:53723636 [GRCh38]
Chr3:53757663 [GRCh37]
Chr3:3p21.1		 likely benign
NM_000720.4(CACNA1D):c.1507A>G (p.Lys503Glu) single nucleotide variant not provided [RCV003712313] Chr3:53718710 [GRCh38]
Chr3:53752737 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3994A>C (p.Arg1332=) single nucleotide variant not provided [RCV003867940] Chr3:53770502 [GRCh38]
Chr3:53804529 [GRCh37]
Chr3:3p21.1		 likely benign
GRCh37/hg19 3p21.1(chr3:53532755-54395791)x3 copy number gain not specified [RCV003986463] Chr3:53532755..54395791 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1836C>G (p.Pro612=) single nucleotide variant not provided [RCV003721242] Chr3:53723603 [GRCh38]
Chr3:53757630 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.298A>G (p.Ser100Gly) single nucleotide variant not provided [RCV003727396] Chr3:53497382 [GRCh38]
Chr3:53531409 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.685G>A (p.Gly229Ser) single nucleotide variant not provided [RCV003733987] Chr3:53660194 [GRCh38]
Chr3:53694221 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1221A>G (p.Gly407=) single nucleotide variant not provided [RCV003854009] Chr3:53702641 [GRCh38]
Chr3:53736668 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4600A>G (p.Met1534Val) single nucleotide variant not provided [RCV003868177] Chr3:53780038 [GRCh38]
Chr3:53814065 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4545C>T (p.Pro1515=) single nucleotide variant not provided [RCV003871562] Chr3:53776914 [GRCh38]
Chr3:53810941 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.6156C>T (p.Ser2052=) single nucleotide variant not provided [RCV003868315] Chr3:53810262 [GRCh38]
Chr3:53844289 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2222-10T>C single nucleotide variant not provided [RCV003683409] Chr3:53730432 [GRCh38]
Chr3:53764459 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1940T>C (p.Met647Thr) single nucleotide variant not provided [RCV003683499] Chr3:53723839 [GRCh38]
Chr3:53757866 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3167+16G>A single nucleotide variant not provided [RCV003676573] Chr3:53745891 [GRCh38]
Chr3:53779918 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5794A>C (p.Ser1932Arg) single nucleotide variant not provided [RCV003868049] Chr3:53808693 [GRCh38]
Chr3:53842720 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.720T>A (p.Arg240=) single nucleotide variant not provided [RCV003872063] Chr3:53660229 [GRCh38]
Chr3:53694256 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1220+577C>T single nucleotide variant not provided [RCV003732681] Chr3:53673703 [GRCh38]
Chr3:53707730 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1361AAG[1] (p.Glu455del) microsatellite not provided [RCV003862826] Chr3:53702780..53702782 [GRCh38]
Chr3:53736807..53736809 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3517-10G>A single nucleotide variant not provided [RCV003718818] Chr3:53751739 [GRCh38]
Chr3:53785766 [GRCh37]
Chr3:3p21.1		 likely benign
NM_000720.4(CACNA1D):c.1500C>T (p.Gly500=) single nucleotide variant not provided [RCV003872301] Chr3:53718703 [GRCh38]
Chr3:53752730 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4032T>G (p.Ile1344Met) single nucleotide variant not provided [RCV003841573] Chr3:53770540 [GRCh38]
Chr3:53804567 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.790A>G (p.Ile264Val) single nucleotide variant not provided [RCV003553270] Chr3:53665683 [GRCh38]
Chr3:53699710 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4626G>T (p.Gly1542=) single nucleotide variant not provided [RCV003869538] Chr3:53780064 [GRCh38]
Chr3:53814091 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.130A>C (p.Asn44His) single nucleotide variant not provided [RCV003706175] Chr3:53497214 [GRCh38]
Chr3:53531241 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.919+1G>C single nucleotide variant not provided [RCV003711438] Chr3:53665813 [GRCh38]
Chr3:53699840 [GRCh37]
Chr3:3p21.1		 uncertain significance
GRCh37/hg19 3p21.1-14.3(chr3:53659716-54500525)x3 copy number gain not specified [RCV003986453] Chr3:53659716..54500525 [GRCh37]
Chr3:3p21.1-14.3		 uncertain significance
NM_001128840.3(CACNA1D):c.301C>A (p.Arg101=) single nucleotide variant not provided [RCV003865383] Chr3:53497385 [GRCh38]
Chr3:53531412 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3889G>A (p.Val1297Ile) single nucleotide variant not provided [RCV003869327] Chr3:53769991 [GRCh38]
Chr3:53804018 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4122A>G (p.Lys1374=) single nucleotide variant not provided [RCV003721053] Chr3:53774598 [GRCh38]
Chr3:53808625 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2626C>T (p.Arg876Cys) single nucleotide variant not provided [RCV003682536] Chr3:53735378 [GRCh38]
Chr3:53769405 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6240T>C (p.Phe2080=) single nucleotide variant not provided [RCV003682545] Chr3:53811160 [GRCh38]
Chr3:53845187 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1019C>T (p.Pro340Leu) single nucleotide variant not provided [RCV003542811] Chr3:53666438 [GRCh38]
Chr3:53700465 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6286A>T (p.Ile2096Phe) single nucleotide variant not provided [RCV003733401] Chr3:53811206 [GRCh38]
Chr3:53845233 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4383T>A (p.Ala1461=) single nucleotide variant not provided [RCV003721210] Chr3:53776623 [GRCh38]
Chr3:53810650 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1506-18T>A single nucleotide variant not provided [RCV003868735] Chr3:53722296 [GRCh38]
Chr3:53756323 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4720C>T (p.Arg1574Trp) single nucleotide variant not provided [RCV003721926] Chr3:53781595 [GRCh38]
Chr3:53815622 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2054G>A (p.Arg685Gln) single nucleotide variant not provided [RCV003869930] Chr3:53723953 [GRCh38]
Chr3:53757980 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6383A>G (p.Tyr2128Cys) single nucleotide variant not provided [RCV003857250] Chr3:53811303 [GRCh38]
Chr3:53845330 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2100+15C>G single nucleotide variant not provided [RCV003823167] Chr3:53724014 [GRCh38]
Chr3:53758041 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1983T>C (p.Ile661=) single nucleotide variant not provided [RCV003867702] Chr3:53723882 [GRCh38]
Chr3:53757909 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.68-11C>T single nucleotide variant not provided [RCV003867722] Chr3:53497141 [GRCh38]
Chr3:53531168 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2533C>G (p.Pro845Ala) single nucleotide variant not provided [RCV003867742] Chr3:53732874 [GRCh38]
Chr3:53766901 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3948C>T (p.Thr1316=) single nucleotide variant not provided [RCV003843936] Chr3:53770456 [GRCh38]
Chr3:53804483 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3870C>T (p.Asp1290=) single nucleotide variant not provided [RCV003823354] Chr3:53762081 [GRCh38]
Chr3:53796108 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.186G>A (p.Gln62=) single nucleotide variant not provided [RCV003867763] Chr3:53497270 [GRCh38]
Chr3:53531297 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.525G>A (p.Glu175=) single nucleotide variant not provided [RCV003867764] Chr3:53650820 [GRCh38]
Chr3:53684847 [GRCh37]
Chr3:3p21.1		 likely benign
NM_000720.4(CACNA1D):c.1167G>T (p.Leu389=) single nucleotide variant not provided [RCV003867765] Chr3:53673763 [GRCh38]
Chr3:53707790 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5296G>A (p.Ala1766Thr) single nucleotide variant not provided [RCV003676393] Chr3:53801313 [GRCh38]
Chr3:53835340 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2872C>T (p.Leu958=) single nucleotide variant not provided [RCV003677689] Chr3:53743071 [GRCh38]
Chr3:53777098 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5169T>C (p.Asp1723=) single nucleotide variant not provided [RCV003679480] Chr3:53801186 [GRCh38]
Chr3:53835213 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5756G>A (p.Arg1919Gln) single nucleotide variant not provided [RCV003859085] Chr3:53808655 [GRCh38]
Chr3:53842682 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5396C>T (p.Ser1799Phe) single nucleotide variant not provided [RCV003842815] Chr3:53801413 [GRCh38]
Chr3:53835440 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3114+17C>T single nucleotide variant not provided [RCV003706052] Chr3:53745748 [GRCh38]
Chr3:53779775 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5258CAA[1] (p.Thr1754del) microsatellite not provided [RCV003705709] Chr3:53801275..53801277 [GRCh38]
Chr3:53835302..53835304 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3135G>A (p.Thr1045=) single nucleotide variant not provided [RCV003729025] Chr3:53745843 [GRCh38]
Chr3:53779870 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.67+16C>T single nucleotide variant not provided [RCV003857915] Chr3:53495249 [GRCh38]
Chr3:53529276 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3010G>A (p.Val1004Met) single nucleotide variant not provided [RCV003564241] Chr3:53745627 [GRCh38]
Chr3:53779654 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5509C>T (p.Pro1837Ser) single nucleotide variant not provided [RCV003859080] Chr3:53803496 [GRCh38]
Chr3:53837523 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5775T>C (p.Phe1925=) single nucleotide variant not provided [RCV003732044] Chr3:53808674 [GRCh38]
Chr3:53842701 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2967G>C (p.Leu989=) single nucleotide variant not provided [RCV003863900] Chr3:53744788 [GRCh38]
Chr3:53778815 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5872-17G>T single nucleotide variant not provided [RCV003853110] Chr3:53809961 [GRCh38]
Chr3:53843988 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2558T>C (p.Met853Thr) single nucleotide variant not provided [RCV003679311] Chr3:53732899 [GRCh38]
Chr3:53766926 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5841G>C (p.Thr1947=) single nucleotide variant not provided [RCV003568822] Chr3:53808740 [GRCh38]
Chr3:53842767 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.290C>T (p.Ser97Leu) single nucleotide variant not provided [RCV003848735] Chr3:53497374 [GRCh38]
Chr3:53531401 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2TGA[3] (p.Met4_Met7del) microsatellite not provided [RCV003734746] Chr3:53495166..53495177 [GRCh38]
Chr3:53529193..53529204 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2524G>A (p.Gly842Arg) single nucleotide variant not provided [RCV003852896] Chr3:53732865 [GRCh38]
Chr3:53766892 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2406+16T>C single nucleotide variant not provided [RCV003846122] Chr3:53731162 [GRCh38]
Chr3:53765189 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1872A>G (p.Leu624=) single nucleotide variant not provided [RCV003564530] Chr3:53723639 [GRCh38]
Chr3:53757666 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.67+17C>T single nucleotide variant not provided [RCV003853415] Chr3:53495250 [GRCh38]
Chr3:53529277 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5770_5775del (p.Asn1924_Phe1925del) deletion not provided [RCV003703807] Chr3:53808669..53808674 [GRCh38]
Chr3:53842696..53842701 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5398A>T (p.Ser1800Cys) single nucleotide variant not provided [RCV003542708] Chr3:53801415 [GRCh38]
Chr3:53835442 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.561A>G (p.Leu187=) single nucleotide variant not provided [RCV003551226] Chr3:53650856 [GRCh38]
Chr3:53684883 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1317G>C (p.Leu439Phe) single nucleotide variant not provided [RCV003679871] Chr3:53702737 [GRCh38]
Chr3:53736764 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3287_3288del (p.Thr1096fs) microsatellite not provided [RCV003567594] Chr3:53747419..53747420 [GRCh38]
Chr3:53781446..53781447 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6106T>C (p.Phe2036Leu) single nucleotide variant not provided [RCV003709046] Chr3:53810212 [GRCh38]
Chr3:53844239 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3338C>T (p.Ser1113Leu) single nucleotide variant not provided [RCV003864317] Chr3:53749291 [GRCh38]
Chr3:53783318 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4110+19G>T single nucleotide variant not provided [RCV003843330] Chr3:53772917 [GRCh38]
Chr3:53806944 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.6435G>A (p.Gly2145=) single nucleotide variant not provided [RCV003707897] Chr3:53811355 [GRCh38]
Chr3:53845382 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.2438A>G (p.Glu813Gly) single nucleotide variant not provided [RCV003844981] Chr3:53732047 [GRCh38]
Chr3:53766074 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2398G>A (p.Asp800Asn) single nucleotide variant not provided [RCV003822543] Chr3:53731138 [GRCh38]
Chr3:53765165 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_000720.4(CACNA1D):c.1479-2A>G single nucleotide variant not provided [RCV003680063] Chr3:53718680 [GRCh38]
Chr3:53752707 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5749+22del deletion not provided [RCV003710700] Chr3:53805165 [GRCh38]
Chr3:53839192 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.5834A>G (p.His1945Arg) single nucleotide variant not provided [RCV003862967] Chr3:53808733 [GRCh38]
Chr3:53842760 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_000720.4(CACNA1D):c.1533G>T (p.Arg511=) single nucleotide variant not provided [RCV003551684] Chr3:53718736 [GRCh38]
Chr3:53752763 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4044+10A>C single nucleotide variant not provided [RCV003847999] Chr3:53770562 [GRCh38]
Chr3:53804589 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3905C>T (p.Ala1302Val) single nucleotide variant not provided [RCV003565012] Chr3:53770007 [GRCh38]
Chr3:53804034 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6223G>T (p.Ala2075Ser) single nucleotide variant not provided [RCV003853909] Chr3:53811143 [GRCh38]
Chr3:53845170 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4491-16del deletion not provided [RCV003824177] Chr3:53776843 [GRCh38]
Chr3:53810870 [GRCh37]
Chr3:3p21.1		 benign
NM_001128840.3(CACNA1D):c.6374G>T (p.Arg2125Leu) single nucleotide variant not provided [RCV003732889] Chr3:53811294 [GRCh38]
Chr3:53845321 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.262T>C (p.Tyr88His) single nucleotide variant not provided [RCV003704177] Chr3:53497346 [GRCh38]
Chr3:53531373 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.422T>C (p.Val141Ala) single nucleotide variant not provided [RCV003727385] Chr3:53501659 [GRCh38]
Chr3:53535686 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6143G>A (p.Arg2048Gln) single nucleotide variant not provided [RCV003842425] Chr3:53810249 [GRCh38]
Chr3:53844276 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1221-5T>C single nucleotide variant not provided [RCV003866352] Chr3:53702636 [GRCh38]
Chr3:53736663 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4384G>A (p.Val1462Ile) single nucleotide variant not provided [RCV003566908] Chr3:53776624 [GRCh38]
Chr3:53810651 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.690A>G (p.Lys230=) single nucleotide variant not provided [RCV003562782] Chr3:53660199 [GRCh38]
Chr3:53694226 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.212C>T (p.Thr71Ile) single nucleotide variant not provided [RCV003562829] Chr3:53497296 [GRCh38]
Chr3:53531323 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3579C>T (p.Pro1193=) single nucleotide variant not provided [RCV003705691] Chr3:53751811 [GRCh38]
Chr3:53785838 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.6347A>G (p.Asn2116Ser) single nucleotide variant not provided [RCV003858895] Chr3:53811267 [GRCh38]
Chr3:53845294 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.728G>A (p.Arg243Gln) single nucleotide variant not provided [RCV003677446] Chr3:53660237 [GRCh38]
Chr3:53694264 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.6455C>T (p.Ala2152Val) single nucleotide variant not provided [RCV003848278] Chr3:53811375 [GRCh38]
Chr3:53845402 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1379G>T (p.Gly460Val) single nucleotide variant not provided [RCV003564200] Chr3:53702799 [GRCh38]
Chr3:53736826 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3758T>C (p.Val1253Ala) single nucleotide variant not provided [RCV003677694] Chr3:53753654 [GRCh38]
Chr3:53787681 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_000720.4(CACNA1D):c.1483T>C (p.Trp495Arg) single nucleotide variant not provided [RCV003733020] Chr3:53718686 [GRCh38]
Chr3:53752713 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.1809C>G (p.Ile603Met) single nucleotide variant not provided [RCV003733079] Chr3:53723576 [GRCh38]
Chr3:53757603 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5408+14T>C single nucleotide variant not provided [RCV003710060] Chr3:53801439 [GRCh38]
Chr3:53835466 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4492G>A (p.Gly1498Arg) single nucleotide variant not provided [RCV003552160] Chr3:53776861 [GRCh38]
Chr3:53810888 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5236A>G (p.Ile1746Val) single nucleotide variant not provided [RCV003554142] Chr3:53801253 [GRCh38]
Chr3:53835280 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.364A>G (p.Ile122Val) single nucleotide variant not provided [RCV003675221] Chr3:53497448 [GRCh38]
Chr3:53531475 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.242C>G (p.Ser81Cys) single nucleotide variant not provided [RCV003676662] Chr3:53497326 [GRCh38]
Chr3:53531353 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4110+7T>C single nucleotide variant not provided [RCV003844021] Chr3:53772905 [GRCh38]
Chr3:53806932 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3314+14G>C single nucleotide variant not provided [RCV003707144] Chr3:53747462 [GRCh38]
Chr3:53781489 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.767-16T>G single nucleotide variant not provided [RCV003862371] Chr3:53665644 [GRCh38]
Chr3:53699671 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5759G>C (p.Arg1920Thr) single nucleotide variant not provided [RCV003847084] Chr3:53808658 [GRCh38]
Chr3:53842685 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.2337-6_2337-5del microsatellite not provided [RCV003681869] Chr3:53731068..53731069 [GRCh38]
Chr3:53765095..53765096 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.6193-9T>C single nucleotide variant not provided [RCV003675203] Chr3:53811104 [GRCh38]
Chr3:53845131 [GRCh37]
Chr3:3p21.1		 likely benign
NM_000720.4(CACNA1D):c.1130T>A (p.Ile377Lys) single nucleotide variant CACNA1D-related condition [RCV003959438] Chr3:53673726 [GRCh38]
Chr3:53707753 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5203T>G (p.Ser1735Ala) single nucleotide variant Aldosterone-producing adenoma with seizures and neurological abnormalities [RCV003886326] Chr3:53801220 [GRCh38]
Chr3:53835247 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.4416G>T (p.Arg1472=) single nucleotide variant CACNA1D-related condition [RCV003964587] Chr3:53776656 [GRCh38]
Chr3:53810683 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.4873C>G (p.Gln1625Glu) single nucleotide variant not provided [RCV003887518] Chr3:53786902 [GRCh38]
Chr3:53820929 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5832C>G (p.Pro1944=) single nucleotide variant not specified [RCV003988199] Chr3:53808731 [GRCh38]
Chr3:53842758 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.814C>T (p.Leu272Phe) single nucleotide variant Sinoatrial node dysfunction and deafness [RCV003988961] Chr3:53665707 [GRCh38]
Chr3:53699734 [GRCh37]		 uncertain significance
NM_001128840.3(CACNA1D):c.5235C>T (p.Ser1745=) single nucleotide variant CACNA1D-related condition [RCV003929599] Chr3:53801252 [GRCh38]
Chr3:53835279 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.1728C>T (p.Ser576=) single nucleotide variant CACNA1D-related condition [RCV003899416] Chr3:53723495 [GRCh38]
Chr3:53757522 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.5681A>G (p.Asp1894Gly) single nucleotide variant not specified [RCV003988458] Chr3:53805078 [GRCh38]
Chr3:53839105 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.3074T>C (p.Leu1025Pro) single nucleotide variant not provided [RCV003325639] Chr3:53745691 [GRCh38]
Chr3:53779718 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.5871+7G>A single nucleotide variant not provided [RCV002542662]|not specified [RCV001822589] Chr3:53808777 [GRCh38]
Chr3:53842804 [GRCh37]
Chr3:3p21.1		 likely benign
NM_001128840.3(CACNA1D):c.3218G>A (p.Arg1073His) single nucleotide variant not provided [RCV001869764]|not specified [RCV001822598] Chr3:53747352 [GRCh38]
Chr3:53781379 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001128840.3(CACNA1D):c.470C>T (p.Thr157Ile) single nucleotide variant not provided [RCV002838140] Chr3:53501707 [GRCh38]
Chr3:53535734 [GRCh37]
Chr3:3p21.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2861
Count of miRNA genes:1005
Interacting mature miRNAs:1267
Transcripts:ENST00000288139, ENST00000350061, ENST00000422281, ENST00000464429, ENST00000481085, ENST00000481478, ENST00000498251, ENST00000540742, ENST00000544977
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
D3S1578  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37353,706,741 - 53,706,896UniSTSGRCh37
GRCh37353,706,742 - 53,706,896UniSTSGRCh37
Build 36353,681,781 - 53,681,936RGDNCBI36
Celera353,673,897 - 53,674,038RGD
Celera353,673,898 - 53,674,038UniSTS
HuRef353,755,265 - 53,755,405UniSTS
HuRef353,755,264 - 53,755,405UniSTS
Marshfield Genetic Map370.61RGD
Genethon Genetic Map367.9UniSTS
TNG Radiation Hybrid Map333617.0UniSTS
Stanford-G3 RH Map32427.0UniSTS
GeneMap99-GB4 RH Map3170.73UniSTS
Whitehead-RH Map3219.2UniSTS
Whitehead-YAC Contig Map3 UniSTS
GeneMap99-G3 RH Map32325.0UniSTS
SHGC-77009  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37353,541,192 - 53,541,329UniSTSGRCh37
Build 36353,516,232 - 53,516,369RGDNCBI36
Celera353,508,341 - 53,508,478RGD
Cytogenetic Map3p14.3UniSTS
HuRef353,589,684 - 53,589,821UniSTS
GeneMap99-GB4 RH Map3166.24UniSTS
SHGC-30332  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37353,846,336 - 53,846,440UniSTSGRCh37
Build 36353,821,376 - 53,821,480RGDNCBI36
Celera353,813,617 - 53,813,721RGD
Cytogenetic Map3p14.3UniSTS
HuRef353,894,856 - 53,894,960UniSTS
GeneMap99-GB4 RH Map3173.65UniSTS
Whitehead-RH Map3216.3UniSTS
GeneMap99-G3 RH Map32330.0UniSTS
RH104037  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37353,831,878 - 53,832,015UniSTSGRCh37
Build 36353,806,918 - 53,807,055RGDNCBI36
Celera353,799,160 - 53,799,297RGD
Cytogenetic Map3p14.3UniSTS
HuRef353,880,318 - 53,880,455UniSTS
GeneMap99-GB4 RH Map3166.24UniSTS
GDB:251823  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37353,531,015 - 53,531,295UniSTSGRCh37
Build 36353,506,055 - 53,506,335RGDNCBI36
Celera353,498,163 - 53,498,443RGD
Cytogenetic Map3p14.3UniSTS
HuRef353,579,505 - 53,579,785UniSTS
GDB:606284  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37353,529,160 - 53,529,304UniSTSGRCh37
Build 36353,504,200 - 53,504,344RGDNCBI36
Celera353,496,308 - 53,496,452RGD
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map3p14.3UniSTS
HuRef353,577,650 - 53,577,794UniSTS
SHGC-142550  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37353,622,701 - 53,622,992UniSTSGRCh37
Build 36353,597,741 - 53,598,032RGDNCBI36
Celera353,589,849 - 53,590,140RGD
Cytogenetic Map3p14.3UniSTS
HuRef353,671,217 - 53,671,508UniSTS
TNG Radiation Hybrid Map333586.0UniSTS
SHGC-142572  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37353,680,067 - 53,680,349UniSTSGRCh37
Build 36353,655,107 - 53,655,389RGDNCBI36
Celera353,647,219 - 53,647,501RGD
Cytogenetic Map3p14.3UniSTS
HuRef353,728,585 - 53,728,867UniSTS
TNG Radiation Hybrid Map333602.0UniSTS
SHGC-149773  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37353,713,493 - 53,713,767UniSTSGRCh37
Build 36353,688,533 - 53,688,807RGDNCBI36
Celera353,680,634 - 53,680,908RGD
Cytogenetic Map3p14.3UniSTS
HuRef353,762,002 - 53,762,276UniSTS
TNG Radiation Hybrid Map333606.0UniSTS
SHGC-153389  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37353,716,846 - 53,717,190UniSTSGRCh37
Build 36353,691,886 - 53,692,230RGDNCBI36
Celera353,683,987 - 53,684,331RGD
Cytogenetic Map3p14.3UniSTS
HuRef353,765,354 - 53,765,698UniSTS
TNG Radiation Hybrid Map333606.0UniSTS
SHGC-149368  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37353,631,990 - 53,632,314UniSTSGRCh37
Build 36353,607,030 - 53,607,354RGDNCBI36
Celera353,599,139 - 53,599,463RGD
Cytogenetic Map3p14.3UniSTS
HuRef353,680,507 - 53,680,831UniSTS
TNG Radiation Hybrid Map333590.0UniSTS
A009J32  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37353,728,968 - 53,729,081UniSTSGRCh37
Build 36353,704,008 - 53,704,121RGDNCBI36
Celera353,696,109 - 53,696,222RGD
Cytogenetic Map3p14.3UniSTS
HuRef353,777,475 - 53,777,588UniSTS
GeneMap99-GB4 RH Map3173.07UniSTS
D3S3905  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37353,845,594 - 53,845,941UniSTSGRCh37
Build 36353,820,634 - 53,820,981RGDNCBI36
Celera353,812,875 - 53,813,222RGD
Cytogenetic Map3p14.3UniSTS
HuRef353,894,114 - 53,894,461UniSTS
Stanford-G3 RH Map32432.0UniSTS
GeneMap99-G3 RH Map32330.0UniSTS
SHGC-32456  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37353,727,517 - 53,727,666UniSTSGRCh37
Build 36353,702,557 - 53,702,706RGDNCBI36
Celera353,694,658 - 53,694,807RGD
Cytogenetic Map3p14.3UniSTS
HuRef353,776,024 - 53,776,173UniSTS
GeneMap99-G3 RH Map32325.0UniSTS
G32588  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37353,728,968 - 53,729,081UniSTSGRCh37
Celera353,696,109 - 53,696,222UniSTS
Cytogenetic Map3p14.3UniSTS
HuRef353,777,475 - 53,777,588UniSTS
PMC18246P1  
Human AssemblyChrPosition (strand)SourceJBrowse
HuRef353,814,489 - 53,815,424UniSTS
D3S3101  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p14.3UniSTS
D3S1578  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q13UniSTS
Cytogenetic Map3p14.3UniSTS
Marshfield Genetic Map370.61UniSTS
Genethon Genetic Map367.9UniSTS
GeneMap99-GB4 RH Map3170.73UniSTS
Whitehead-RH Map3219.2UniSTS
Whitehead-YAC Contig Map3 UniSTS
D3S1578  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p14.3UniSTS
TNG Radiation Hybrid Map333617.0UniSTS
Stanford-G3 RH Map32427.0UniSTS
GeneMap99-G3 RH Map32325.0UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 10 1 214 5 19 5 3 148 19 37 204 2
Low 1365 276 1400 483 877 365 1626 167 3193 336 1029 1271 122 35 1133 3 1
Below cutoff 1060 2685 108 132 1024 92 2699 2004 391 56 386 127 51 1 1164 1635 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_032999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001128839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001128840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005265448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011534094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011534096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011534097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011534099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011534100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC012467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC024149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC132810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF055575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW008794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D43747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU363339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M76558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M83566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MN711717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000288139   ⟹   ENSP00000288139
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl353,494,611 - 53,813,733 (+)Ensembl
RefSeq Acc Id: ENST00000350061   ⟹   ENSP00000288133
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl353,494,611 - 53,813,733 (+)Ensembl
RefSeq Acc Id: ENST00000422281   ⟹   ENSP00000409174
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl353,495,167 - 53,812,203 (+)Ensembl
RefSeq Acc Id: ENST00000464429
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl353,666,378 - 53,674,047 (+)Ensembl
RefSeq Acc Id: ENST00000481085   ⟹   ENSP00000418045
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl353,666,363 - 53,722,458 (+)Ensembl
RefSeq Acc Id: ENST00000481478   ⟹   ENSP00000418014
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl353,494,611 - 53,811,508 (+)Ensembl
RefSeq Acc Id: ENST00000498251
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl353,673,061 - 53,679,765 (+)Ensembl
RefSeq Acc Id: ENST00000636138
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl353,731,024 - 53,745,849 (+)Ensembl
RefSeq Acc Id: ENST00000636448   ⟹   ENSP00000490839
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl353,753,622 - 53,812,777 (+)Ensembl
RefSeq Acc Id: ENST00000636480
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl353,495,159 - 53,650,957 (+)Ensembl
RefSeq Acc Id: ENST00000636570   ⟹   ENSP00000490183
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl353,495,167 - 53,811,406 (+)Ensembl
RefSeq Acc Id: ENST00000636581
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl353,807,511 - 53,813,712 (+)Ensembl
RefSeq Acc Id: ENST00000636595
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl353,773,402 - 53,783,105 (+)Ensembl
RefSeq Acc Id: ENST00000636627   ⟹   ENSP00000490889
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl353,494,611 - 53,781,924 (+)Ensembl
RefSeq Acc Id: ENST00000636629
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl353,796,122 - 53,811,297 (+)Ensembl
RefSeq Acc Id: ENST00000636633
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl353,773,818 - 53,813,697 (+)Ensembl
RefSeq Acc Id: ENST00000636723   ⟹   ENSP00000490908
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl353,745,828 - 53,772,886 (+)Ensembl
RefSeq Acc Id: ENST00000636938   ⟹   ENSP00000490039
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl353,494,674 - 53,792,432 (+)Ensembl
RefSeq Acc Id: ENST00000636999
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl353,799,891 - 53,813,705 (+)Ensembl
RefSeq Acc Id: ENST00000637078
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl353,731,029 - 53,743,062 (+)Ensembl
RefSeq Acc Id: ENST00000637081
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl353,753,652 - 53,766,186 (+)Ensembl
RefSeq Acc Id: ENST00000637301   ⟹   ENSP00000489962
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl353,702,777 - 53,718,691 (+)Ensembl
RefSeq Acc Id: ENST00000637424   ⟹   ENSP00000489769
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl353,328,963 - 53,811,406 (+)Ensembl
RefSeq Acc Id: ENST00000637589
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl353,785,516 - 53,800,344 (+)Ensembl
RefSeq Acc Id: ENST00000637714   ⟹   ENSP00000490108
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl353,730,485 - 53,745,865 (+)Ensembl
RefSeq Acc Id: ENST00000637844
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl353,801,264 - 53,805,218 (+)Ensembl
RefSeq Acc Id: ENST00000638120   ⟹   ENSP00000489790
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl353,749,080 - 53,791,179 (+)Ensembl
RefSeq Acc Id: ENST00000638129   ⟹   ENSP00000490523
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl353,749,374 - 53,776,030 (+)Ensembl
RefSeq Acc Id: ENST00000640483   ⟹   ENSP00000491921
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl353,495,194 - 53,791,742 (+)Ensembl
RefSeq Acc Id: ENST00000645528   ⟹   ENSP00000494413
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl353,743,012 - 53,792,062 (+)Ensembl
RefSeq Acc Id: NM_000720   ⟹   NP_000711
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38353,494,611 - 53,813,733 (+)NCBI
GRCh37353,529,076 - 53,847,179 (+)NCBI
Build 36353,504,116 - 53,821,001 (+)NCBI Archive
HuRef353,577,566 - 53,895,012 (+)NCBI
CHM1_1353,480,800 - 53,798,135 (+)NCBI
T2T-CHM13v2.0353,527,880 - 53,846,976 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001128839   ⟹   NP_001122311
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38353,494,611 - 53,813,733 (+)NCBI
GRCh37353,529,076 - 53,847,179 (+)NCBI
HuRef353,577,566 - 53,895,012 (+)NCBI
CHM1_1353,480,800 - 53,798,135 (+)NCBI
T2T-CHM13v2.0353,527,880 - 53,846,976 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001128840   ⟹   NP_001122312
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38353,494,611 - 53,813,733 (+)NCBI
GRCh37353,529,076 - 53,847,179 (+)NCBI
HuRef353,577,566 - 53,895,012 (+)NCBI
CHM1_1353,480,800 - 53,798,135 (+)NCBI
T2T-CHM13v2.0353,527,880 - 53,846,976 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005265448   ⟹   XP_005265505
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38353,494,611 - 53,813,733 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011534094   ⟹   XP_011532396
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38353,495,815 - 53,813,733 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011534096   ⟹   XP_011532398
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38353,495,815 - 53,813,733 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011534097   ⟹   XP_011532399
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38353,500,429 - 53,813,733 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011534099   ⟹   XP_011532401
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38353,660,182 - 53,813,733 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011534100   ⟹   XP_011532402
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38353,495,815 - 53,813,733 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017007137   ⟹   XP_016862626
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38353,495,815 - 53,813,733 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017007138   ⟹   XP_016862627
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38353,495,815 - 53,813,733 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017007139   ⟹   XP_016862628
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38353,495,815 - 53,813,733 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017007140   ⟹   XP_016862629
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38353,495,815 - 53,813,733 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017007141   ⟹   XP_016862630
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38353,495,815 - 53,813,733 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017007142   ⟹   XP_016862631
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38353,495,815 - 53,813,733 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017007143   ⟹   XP_016862632
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38353,495,815 - 53,813,733 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017007144   ⟹   XP_016862633
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38353,495,815 - 53,813,733 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017007145   ⟹   XP_016862634
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38353,495,815 - 53,813,733 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047448871   ⟹   XP_047304827
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38353,495,815 - 53,813,733 (+)NCBI
RefSeq Acc Id: XM_047448872   ⟹   XP_047304828
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38353,495,815 - 53,813,733 (+)NCBI
RefSeq Acc Id: XM_047448873   ⟹   XP_047304829
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38353,495,815 - 53,783,105 (+)NCBI
RefSeq Acc Id: XM_047448874   ⟹   XP_047304830
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38353,494,611 - 53,797,783 (+)NCBI
RefSeq Acc Id: XM_054347768   ⟹   XP_054203743
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0353,529,084 - 53,846,976 (+)NCBI
RefSeq Acc Id: XM_054347769   ⟹   XP_054203744
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0353,529,084 - 53,846,976 (+)NCBI
RefSeq Acc Id: XM_054347770   ⟹   XP_054203745
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0353,529,084 - 53,846,976 (+)NCBI
RefSeq Acc Id: XM_054347771   ⟹   XP_054203746
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0353,529,084 - 53,846,976 (+)NCBI
RefSeq Acc Id: XM_054347772   ⟹   XP_054203747
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0353,529,084 - 53,846,976 (+)NCBI
RefSeq Acc Id: XM_054347773   ⟹   XP_054203748
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0353,529,084 - 53,846,976 (+)NCBI
RefSeq Acc Id: XM_054347774   ⟹   XP_054203749
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0353,529,084 - 53,846,976 (+)NCBI
RefSeq Acc Id: XM_054347775   ⟹   XP_054203750
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0353,529,084 - 53,846,976 (+)NCBI
RefSeq Acc Id: XM_054347776   ⟹   XP_054203751
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0353,529,084 - 53,846,976 (+)NCBI
RefSeq Acc Id: XM_054347777   ⟹   XP_054203752
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0353,529,084 - 53,846,976 (+)NCBI
RefSeq Acc Id: XM_054347778   ⟹   XP_054203753
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0353,529,084 - 53,846,976 (+)NCBI
RefSeq Acc Id: XM_054347779   ⟹   XP_054203754
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0353,529,084 - 53,846,976 (+)NCBI
RefSeq Acc Id: XM_054347780   ⟹   XP_054203755
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0353,529,084 - 53,846,976 (+)NCBI
RefSeq Acc Id: XM_054347781   ⟹   XP_054203756
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0353,527,880 - 53,846,976 (+)NCBI
RefSeq Acc Id: XM_054347782   ⟹   XP_054203757
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0353,533,701 - 53,846,976 (+)NCBI
RefSeq Acc Id: XM_054347783   ⟹   XP_054203758
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0353,693,449 - 53,846,976 (+)NCBI
RefSeq Acc Id: XM_054347784   ⟹   XP_054203759
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0353,529,084 - 53,819,991 (+)NCBI
RefSeq Acc Id: XM_054347785   ⟹   XP_054203760
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0353,527,880 - 53,830,362 (+)NCBI
RefSeq Acc Id: XM_054347786   ⟹   XP_054203761
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0353,529,084 - 53,846,976 (+)NCBI
Protein Sequences
Protein RefSeqs NP_000711 (Get FASTA)   NCBI Sequence Viewer  
  NP_001122311 (Get FASTA)   NCBI Sequence Viewer  
  NP_001122312 (Get FASTA)   NCBI Sequence Viewer  
  XP_005265505 (Get FASTA)   NCBI Sequence Viewer  
  XP_011532396 (Get FASTA)   NCBI Sequence Viewer  
  XP_011532398 (Get FASTA)   NCBI Sequence Viewer  
  XP_011532399 (Get FASTA)   NCBI Sequence Viewer  
  XP_011532401 (Get FASTA)   NCBI Sequence Viewer  
  XP_011532402 (Get FASTA)   NCBI Sequence Viewer  
  XP_016862626 (Get FASTA)   NCBI Sequence Viewer  
  XP_016862627 (Get FASTA)   NCBI Sequence Viewer  
  XP_016862628 (Get FASTA)   NCBI Sequence Viewer  
  XP_016862629 (Get FASTA)   NCBI Sequence Viewer  
  XP_016862630 (Get FASTA)   NCBI Sequence Viewer  
  XP_016862631 (Get FASTA)   NCBI Sequence Viewer  
  XP_016862632 (Get FASTA)   NCBI Sequence Viewer  
  XP_016862633 (Get FASTA)   NCBI Sequence Viewer  
  XP_016862634 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304827 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304828 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304829 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304830 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203743 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203744 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203745 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203746 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203747 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203748 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203749 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203750 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203751 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203752 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203753 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203754 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203755 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203756 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203757 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203758 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203759 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203760 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203761 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA35629 (Get FASTA)   NCBI Sequence Viewer  
  AAA58402 (Get FASTA)   NCBI Sequence Viewer  
  AAD08651 (Get FASTA)   NCBI Sequence Viewer  
  ABY66526 (Get FASTA)   NCBI Sequence Viewer  
  BAA07804 (Get FASTA)   NCBI Sequence Viewer  
  BAD92408 (Get FASTA)   NCBI Sequence Viewer  
  BAG57776 (Get FASTA)   NCBI Sequence Viewer  
  BAH11755 (Get FASTA)   NCBI Sequence Viewer  
  EAW65286 (Get FASTA)   NCBI Sequence Viewer  
  EAW65287 (Get FASTA)   NCBI Sequence Viewer  
  EAW65288 (Get FASTA)   NCBI Sequence Viewer  
  EAW65289 (Get FASTA)   NCBI Sequence Viewer  
  EAW65290 (Get FASTA)   NCBI Sequence Viewer  
  EAW65291 (Get FASTA)   NCBI Sequence Viewer  
  EAW65292 (Get FASTA)   NCBI Sequence Viewer  
  EAW65293 (Get FASTA)   NCBI Sequence Viewer  
  EAW65294 (Get FASTA)   NCBI Sequence Viewer  
  EAW65295 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000288133
  ENSP00000288133.5
  ENSP00000288139
  ENSP00000288139.3
  ENSP00000409174
  ENSP00000409174.2
  ENSP00000418014
  ENSP00000418014.2
  ENSP00000418045.1
  ENSP00000489769
  ENSP00000489769.1
  ENSP00000489790.1
  ENSP00000489962.1
  ENSP00000490039
  ENSP00000490039.1
  ENSP00000490108.1
  ENSP00000490183
  ENSP00000490183.1
  ENSP00000490523.1
  ENSP00000490839.1
  ENSP00000490889
  ENSP00000490889.2
  ENSP00000490908.1
  ENSP00000491921.1
  ENSP00000494413.2
GenBank Protein Q01668 (Get FASTA)   NCBI Sequence Viewer  
  QNM37193 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001122312   ⟸   NM_001128840
- Peptide Label: isoform b
- UniProtKB: Q71UT1 (UniProtKB/Swiss-Prot),   Q13931 (UniProtKB/Swiss-Prot),   Q13916 (UniProtKB/Swiss-Prot),   B0FYA3 (UniProtKB/Swiss-Prot),   Q9UDC3 (UniProtKB/Swiss-Prot),   Q01668 (UniProtKB/Swiss-Prot),   A0A7G9IPG1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001122311   ⟸   NM_001128839
- Peptide Label: isoform c
- UniProtKB: A0A7G9IPG1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_000711   ⟸   NM_000720
- Peptide Label: isoform a
- UniProtKB: H0Y879 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005265505   ⟸   XM_005265448
- Peptide Label: isoform X14
- UniProtKB: A0A1B0GUN6 (UniProtKB/TrEMBL),   A0A7G9IPG1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011532396   ⟸   XM_011534094
- Peptide Label: isoform X2
- UniProtKB: H0Y879 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011532402   ⟸   XM_011534100
- Peptide Label: isoform X19
- UniProtKB: A0A7G9IPG1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011532398   ⟸   XM_011534096
- Peptide Label: isoform X13
- UniProtKB: A0A7G9IPG1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011532399   ⟸   XM_011534097
- Peptide Label: isoform X15
- UniProtKB: H0Y879 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011532401   ⟸   XM_011534099
- Peptide Label: isoform X16
- UniProtKB: Q59GD8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016862630   ⟸   XM_017007141
- Peptide Label: isoform X6
- UniProtKB: A0A7G9IPG1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016862626   ⟸   XM_017007137
- Peptide Label: isoform X1
- UniProtKB: H0Y879 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016862628   ⟸   XM_017007139
- Peptide Label: isoform X4
- UniProtKB: H0Y879 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016862631   ⟸   XM_017007142
- Peptide Label: isoform X10
- UniProtKB: H0Y879 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016862634   ⟸   XM_017007145
- Peptide Label: isoform X11
- UniProtKB: H0Y879 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016862632   ⟸   XM_017007143
- Peptide Label: isoform X9
- UniProtKB: H0Y879 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016862627   ⟸   XM_017007138
- Peptide Label: isoform X3
- UniProtKB: H0Y879 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016862629   ⟸   XM_017007140
- Peptide Label: isoform X5
- UniProtKB: A0A7G9IPG1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016862633   ⟸   XM_017007144
- Peptide Label: isoform X8
- UniProtKB: H0Y879 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000490889   ⟸   ENST00000636627
RefSeq Acc Id: ENSP00000490183   ⟸   ENST00000636570
RefSeq Acc Id: ENSP00000490839   ⟸   ENST00000636448
RefSeq Acc Id: ENSP00000490039   ⟸   ENST00000636938
RefSeq Acc Id: ENSP00000490908   ⟸   ENST00000636723
RefSeq Acc Id: ENSP00000489769   ⟸   ENST00000637424
RefSeq Acc Id: ENSP00000489962   ⟸   ENST00000637301
RefSeq Acc Id: ENSP00000490108   ⟸   ENST00000637714
RefSeq Acc Id: ENSP00000490523   ⟸   ENST00000638129
RefSeq Acc Id: ENSP00000489790   ⟸   ENST00000638120
RefSeq Acc Id: ENSP00000418045   ⟸   ENST00000481085
RefSeq Acc Id: ENSP00000418014   ⟸   ENST00000481478
RefSeq Acc Id: ENSP00000288133   ⟸   ENST00000350061
RefSeq Acc Id: ENSP00000491921   ⟸   ENST00000640483
RefSeq Acc Id: ENSP00000288139   ⟸   ENST00000288139
RefSeq Acc Id: ENSP00000494413   ⟸   ENST00000645528
RefSeq Acc Id: ENSP00000409174   ⟸   ENST00000422281
RefSeq Acc Id: XP_047304830   ⟸   XM_047448874
- Peptide Label: isoform X18
RefSeq Acc Id: XP_047304827   ⟸   XM_047448871
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047304828   ⟸   XM_047448872
- Peptide Label: isoform X12
RefSeq Acc Id: XP_047304829   ⟸   XM_047448873
- Peptide Label: isoform X17
RefSeq Acc Id: XP_054203756   ⟸   XM_054347781
- Peptide Label: isoform X14
- UniProtKB: A0A1B0GUN6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054203760   ⟸   XM_054347785
- Peptide Label: isoform X18
RefSeq Acc Id: XP_054203744   ⟸   XM_054347769
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054203750   ⟸   XM_054347775
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054203748   ⟸   XM_054347773
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054203743   ⟸   XM_054347768
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054203746   ⟸   XM_054347771
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054203749   ⟸   XM_054347774
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054203752   ⟸   XM_054347777
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054203753   ⟸   XM_054347778
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054203754   ⟸   XM_054347779
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054203751   ⟸   XM_054347776
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054203745   ⟸   XM_054347770
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054203747   ⟸   XM_054347772
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054203761   ⟸   XM_054347786
- Peptide Label: isoform X19
RefSeq Acc Id: XP_054203755   ⟸   XM_054347780
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054203759   ⟸   XM_054347784
- Peptide Label: isoform X17
RefSeq Acc Id: XP_054203757   ⟸   XM_054347782
- Peptide Label: isoform X15
RefSeq Acc Id: XP_054203758   ⟸   XM_054347783
- Peptide Label: isoform X16
Protein Domains
Ion transport   Voltage-dependent calcium channel alpha-1 subunit   Voltage-dependent L-type calcium channel IQ-

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q01668-F1-model_v2 AlphaFold Q01668 1-2161 view protein structure

Promoters
RGD ID:6864740
Promoter ID:EPDNEW_H5535
Type:initiation region
Name:CACNA1D_1
Description:calcium voltage-gated channel subunit alpha1 D
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5536  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38353,494,641 - 53,494,701EPDNEW
RGD ID:6864742
Promoter ID:EPDNEW_H5536
Type:multiple initiation site
Name:CACNA1D_2
Description:calcium voltage-gated channel subunit alpha1 D
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5535  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38353,494,789 - 53,494,849EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1391 AgrOrtholog
COSMIC CACNA1D COSMIC
Ensembl Genes ENSG00000157388 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000288139 ENTREZGENE
  ENST00000288139.11 UniProtKB/Swiss-Prot
  ENST00000350061 ENTREZGENE
  ENST00000350061.11 UniProtKB/Swiss-Prot
  ENST00000422281 ENTREZGENE
  ENST00000422281.7 UniProtKB/Swiss-Prot
  ENST00000481085.5 UniProtKB/TrEMBL
  ENST00000481478 ENTREZGENE
  ENST00000481478.2 UniProtKB/TrEMBL
  ENST00000636448.1 UniProtKB/TrEMBL
  ENST00000636570 ENTREZGENE
  ENST00000636570.1 UniProtKB/TrEMBL
  ENST00000636627 ENTREZGENE
  ENST00000636627.2 UniProtKB/TrEMBL
  ENST00000636723.1 UniProtKB/TrEMBL
  ENST00000636938 ENTREZGENE
  ENST00000636938.1 UniProtKB/TrEMBL
  ENST00000637301.1 UniProtKB/TrEMBL
  ENST00000637424 ENTREZGENE
  ENST00000637424.1 UniProtKB/TrEMBL
  ENST00000637714.1 UniProtKB/TrEMBL
  ENST00000638120.1 UniProtKB/TrEMBL
  ENST00000638129.1 UniProtKB/TrEMBL
  ENST00000640483.1 UniProtKB/TrEMBL
  ENST00000645528.2 UniProtKB/TrEMBL
Gene3D-CATH 1.10.287.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.20.120.350 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6.10.250.2180 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6.10.250.2500 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF-hand UniProtKB/TrEMBL
GTEx ENSG00000157388 GTEx
HGNC ID HGNC:1391 ENTREZGENE
Human Proteome Map CACNA1D Human Proteome Map
InterPro CAC1F_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPHH_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ion_trans_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LVDCC_a1dsu UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VDCC_a1su_IQ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VDCC_L_a1su UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VDCCAlpha1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Volt_channel_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:776 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 776 ENTREZGENE
OMIM 114206 OMIM
PANTHER VOLTAGE-DEPENDENT CALCIUM CHANNEL TYPE A SUBUNIT ALPHA-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VOLTAGE-DEPENDENT L-TYPE CALCIUM CHANNEL SUBUNIT ALPHA-1D UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ca_chan_IQ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CAC1F_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPHH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ion_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA84 PharmGKB
PRINTS CACHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LVDCCALPHA1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LVDCCALPHA1D UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Ca_chan_IQ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Voltage-gated potassium channels UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1B0GTN0_HUMAN UniProtKB/TrEMBL
  A0A1B0GTP8_HUMAN UniProtKB/TrEMBL
  A0A1B0GU49_HUMAN UniProtKB/TrEMBL
  A0A1B0GUB6_HUMAN UniProtKB/TrEMBL
  A0A1B0GUH2_HUMAN UniProtKB/TrEMBL
  A0A1B0GUN6 ENTREZGENE, UniProtKB/TrEMBL
  A0A1B0GVI2_HUMAN UniProtKB/TrEMBL
  A0A1B0GW98_HUMAN UniProtKB/TrEMBL
  A0A1B0GWE1_HUMAN UniProtKB/TrEMBL
  A0A1B0GWF7_HUMAN UniProtKB/TrEMBL
  A0A1W2PQ56_HUMAN UniProtKB/TrEMBL
  A0A5F9Z6M3_HUMAN UniProtKB/TrEMBL
  A0A7G9IPG1 ENTREZGENE, UniProtKB/TrEMBL
  B0FYA3 ENTREZGENE
  CAC1D_HUMAN UniProtKB/Swiss-Prot
  H0Y879 ENTREZGENE, UniProtKB/TrEMBL
  H7C4S8_HUMAN UniProtKB/TrEMBL
  Q01668 ENTREZGENE
  Q13916 ENTREZGENE
  Q13931 ENTREZGENE
  Q59GD8 ENTREZGENE, UniProtKB/TrEMBL
  Q71UT1 ENTREZGENE
  Q9UDC3 ENTREZGENE
UniProt Secondary B0FYA3 UniProtKB/Swiss-Prot
  Q13916 UniProtKB/Swiss-Prot
  Q13931 UniProtKB/Swiss-Prot
  Q71UT1 UniProtKB/Swiss-Prot
  Q9UDC3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 CACNA1D  calcium voltage-gated channel subunit alpha1 D    calcium channel, voltage-dependent, L type, alpha 1D subunit  Symbol and/or name change 5135510 APPROVED