SLC12A3 (solute carrier family 12 member 3) - Rat Genome Database

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Gene: SLC12A3 (solute carrier family 12 member 3) Homo sapiens
Analyze
Symbol: SLC12A3
Name: solute carrier family 12 member 3
RGD ID: 733325
HGNC Page HGNC:10912
Description: Enables sodium:chloride symporter activity. Involved in renal sodium ion absorption. Located in apical plasma membrane and extracellular exosome. Is active in plasma membrane. Implicated in Gitelman syndrome and essential hypertension.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ96318; Na-Cl cotransporter; Na-Cl symporter; NaCl electroneutral thiazide-sensitive cotransporter; NCC; NCCT; sodium-chloride co-transporter; solute carrier family 12 (sodium/chloride transporter), member 3; solute carrier family 12 (sodium/chloride transporters), member 3; solute carrier family 12, member 3; thiazide-sensitive Na-Cl cotransporter; thiazide-sensitive sodium-chloride cotransporter; TSC
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: LOC100422510  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381656,865,207 - 56,915,850 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1656,865,207 - 56,915,850 (+)EnsemblGRCh38hg38GRCh38
GRCh371656,899,119 - 56,949,762 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361655,456,643 - 55,504,850 (+)NCBINCBI36Build 36hg18NCBI36
Build 341655,456,642 - 55,504,850NCBI
Celera1641,398,377 - 41,450,052 (+)NCBICelera
Cytogenetic Map16q13NCBI
HuRef1642,768,662 - 42,819,218 (+)NCBIHuRef
CHM1_11658,307,135 - 58,357,791 (+)NCBICHM1_1
T2T-CHM13v2.01662,661,526 - 62,712,168 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
apical plasma membrane  (IBA,IDA,IEA,ISO,ISS)
cytosol  (IEA)
extracellular exosome  (HDA,IDA)
membrane  (IEA,TAS)
plasma membrane  (IDA,IEA,TAS)
vesicle  (ISO)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal pain  (IAGP)
Abnormal T-wave  (IAGP)
Arthralgia  (IAGP)
Ataxia  (IAGP)
Autosomal recessive inheritance  (IAGP)
Blurred vision  (IAGP)
Cerebral calcification  (IAGP)
Chondrocalcinosis  (IAGP)
Constipation  (IAGP)
Decreased urinary potassium  (IAGP)
Delayed puberty  (IAGP)
Diabetic ketoacidosis  (IAGP)
Diarrhea  (IAGP)
Enuresis  (IAGP)
Excessive daytime somnolence  (IAGP)
Failure to thrive  (IAGP)
Fatigue  (IAGP)
Focal segmental glomerulosclerosis  (IAGP)
Focal-onset seizure  (IAGP)
Generalized muscle weakness  (IAGP)
Glucose intolerance  (IAGP)
Gout  (IAGP)
Graves disease  (IAGP)
Growth delay  (IAGP)
Hashimoto thyroiditis  (IAGP)
Headache  (IAGP)
Hyperhidrosis  (IAGP)
Hypermagnesemia  (IAGP)
Hypocalcemia  (IAGP)
Hypocalciuria  (IAGP)
Hypokalemia  (IAGP)
Hypokalemic alkalosis  (IAGP)
Hypomagnesemia  (IAGP)
Hypotension  (IAGP)
Increased circulating renin level  (IAGP)
Insomnia  (IAGP)
Insulin resistance  (IAGP)
Iron deficiency anemia  (IAGP)
Juvenile onset  (IAGP)
Low-to-normal blood pressure  (IAGP)
Maternal diabetes  (IAGP)
Metabolic alkalosis  (IAGP)
Mitochondrial encephalopathy  (IAGP)
Muscle spasm  (IAGP)
Muscle weakness  (IAGP)
Myalgia  (IAGP)
Nausea and vomiting  (IAGP)
Neoplasm of the pancreas  (IAGP)
Nocturia  (IAGP)
Palpitations  (IAGP)
Paralysis  (IAGP)
Parathyroid adenoma  (IAGP)
Paresthesia  (IAGP)
Pericardial effusion  (IAGP)
Polydipsia  (IAGP)
Polyuria  (IAGP)
Primary hyperaldosteronism  (IAGP)
Prolonged PR interval  (IAGP)
Prolonged QT interval  (IAGP)
Prominent U wave  (IAGP)
Proteinuria  (IAGP)
Raynaud phenomenon  (IAGP)
Recurrent fever  (IAGP)
Renal Fanconi syndrome  (IAGP)
Renal magnesium wasting  (IAGP)
Renal potassium wasting  (IAGP)
Renal tubular acidosis  (IAGP)
Respiratory distress  (IAGP)
Rhabdomyolysis  (IAGP)
Salt craving  (IAGP)
Scleroderma  (IAGP)
Seizure  (IAGP)
ST segment depression  (IAGP)
Syncope  (IAGP)
Tetany  (IAGP)
Tinnitus  (IAGP)
Tubulointerstitial nephritis  (IAGP)
Type I diabetes mellitus  (IAGP)
Type II diabetes mellitus  (IAGP)
Urinary incontinence  (IAGP)
Varicose veins  (IAGP)
Ventricular fibrillation  (IAGP)
Ventricular tachycardia  (IAGP)
Vertigo  (IAGP)
Vomiting  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. The thiazide-sensitive Na(+)-Cl(-) cotransporter gene, C1784T, and adrenergic receptor-beta3 gene, T727C, may be gene polymorphisms susceptible to the antihypertensive effect of thiazide diuretics. Matayoshi T, etal., Hypertens Res. 2004 Nov;27(11):821-33.
3. G2736A polymorphism of thiazide-sensitive Na-Cl cotransporter gene predisposes to hypertension in young women. Matsuo A, etal., J Hypertens. 2004 Nov;22(11):2123-7.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
9. Gitelman syndrome: genetic and expression analysis of the thiazide-sensitive sodium-chloride transporter in blood cells. Riancho JA, etal., Nephrol Dial Transplant. 2006 Jan;21(1):217-20. Epub 2005 Oct 12.
10. Sodium retention in rats with liver cirrhosis is associated with increased renal abundance of NaCl cotransporter (NCC). Yu Z, etal., Nephrol Dial Transplant. 2005 Sep;20(9):1833-41. Epub 2005 Jun 14.
Additional References at PubMed
PMID:8125298   PMID:8528245   PMID:8670281   PMID:8812482   PMID:8900229   PMID:8954067   PMID:9596079   PMID:11076863   PMID:11564973   PMID:11832422   PMID:11893344   PMID:12477932  
PMID:12515852   PMID:12686679   PMID:14578305   PMID:14655226   PMID:14675033   PMID:14766743   PMID:15069170   PMID:15102966   PMID:15309683   PMID:15915338   PMID:16505253   PMID:16688122  
PMID:16887815   PMID:17159356   PMID:17329572   PMID:17460608   PMID:17653210   PMID:17654016   PMID:17873326   PMID:17885550   PMID:17954289   PMID:17975670   PMID:17981812   PMID:17997379  
PMID:18067089   PMID:18263927   PMID:18270262   PMID:18287808   PMID:18362449   PMID:18391953   PMID:18469313   PMID:18496130   PMID:18580052   PMID:19033254   PMID:19056867   PMID:19207868  
PMID:19420906   PMID:19451210   PMID:19489442   PMID:19668106   PMID:19779464   PMID:19875813   PMID:19913121   PMID:20031564   PMID:20379614   PMID:20628086   PMID:20675610   PMID:20889219  
PMID:21051746   PMID:21082674   PMID:21161146   PMID:21164023   PMID:21196779   PMID:21397062   PMID:21415153   PMID:21613606   PMID:21631963   PMID:21644207   PMID:21644212   PMID:21753071  
PMID:21852580   PMID:21873635   PMID:22009145   PMID:22027832   PMID:22406640   PMID:22568564   PMID:22627394   PMID:22679066   PMID:23079845   PMID:23156397   PMID:23376485   PMID:23482560  
PMID:23505323   PMID:23533145   PMID:23833262   PMID:23993962   PMID:24026181   PMID:24430698   PMID:24433479   PMID:24668812   PMID:25060058   PMID:25165177   PMID:25273610   PMID:25401745  
PMID:25422309   PMID:25841442   PMID:25931204   PMID:26260218   PMID:26306968   PMID:26345939   PMID:26496610   PMID:26561651   PMID:26751802   PMID:26760575   PMID:26770037   PMID:26825084  
PMID:27216017   PMID:27342126   PMID:27378340   PMID:27454426   PMID:27699784   PMID:27783806   PMID:27784896   PMID:28125972   PMID:28166833   PMID:28274929   PMID:28446151   PMID:28511177  
PMID:28515174   PMID:28566500   PMID:28685938   PMID:28744814   PMID:29378538   PMID:29419876   PMID:29661184   PMID:29742433   PMID:30084681   PMID:30113482   PMID:30413979   PMID:30945685  
PMID:31285285   PMID:31398183   PMID:31480784   PMID:31660880   PMID:31808035   PMID:32634861   PMID:32702863   PMID:32712837   PMID:32758178   PMID:33306824   PMID:33542107   PMID:33807568  
PMID:33961781   PMID:33993910   PMID:34046503   PMID:34495675   PMID:34657521   PMID:34729749   PMID:35627249   PMID:35693921   PMID:35785516   PMID:35870644   PMID:36351028   PMID:36370249  
PMID:36562655   PMID:36597580   PMID:36792826   PMID:36925204   PMID:37657006   PMID:37702302   PMID:37968800  


Genomics

Comparative Map Data
SLC12A3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381656,865,207 - 56,915,850 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1656,865,207 - 56,915,850 (+)EnsemblGRCh38hg38GRCh38
GRCh371656,899,119 - 56,949,762 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361655,456,643 - 55,504,850 (+)NCBINCBI36Build 36hg18NCBI36
Build 341655,456,642 - 55,504,850NCBI
Celera1641,398,377 - 41,450,052 (+)NCBICelera
Cytogenetic Map16q13NCBI
HuRef1642,768,662 - 42,819,218 (+)NCBIHuRef
CHM1_11658,307,135 - 58,357,791 (+)NCBICHM1_1
T2T-CHM13v2.01662,661,526 - 62,712,168 (+)NCBIT2T-CHM13v2.0
Slc12a3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39895,055,737 - 95,092,850 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl895,055,829 - 95,092,842 (+)EnsemblGRCm39 Ensembl
GRCm38894,329,109 - 94,366,222 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl894,329,201 - 94,366,214 (+)EnsemblGRCm38mm10GRCm38
MGSCv37896,853,108 - 96,890,122 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36897,218,355 - 97,255,092 (+)NCBIMGSCv36mm8
Celera898,660,930 - 98,697,944 (+)NCBICelera
Cytogenetic Map8C5NCBI
cM Map846.46NCBI
Slc12a3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81910,636,594 - 10,690,008 (-)NCBIGRCr8
mRatBN7.21910,630,651 - 10,679,250 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1910,631,393 - 10,669,091 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1910,594,046 - 10,632,542 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01911,360,884 - 11,399,380 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01910,647,871 - 10,686,368 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01911,106,033 - 11,144,674 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1911,106,033 - 11,144,641 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01911,084,193 - 11,122,657 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41911,070,329 - 11,109,634 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11911,075,156 - 11,114,460 (-)NCBI
Celera1910,518,752 - 10,557,092 (-)NCBICelera
Cytogenetic Map19p13-p12NCBI
Slc12a3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543314,553,758 - 14,587,602 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495543314,553,752 - 14,588,317 (+)NCBIChiLan1.0ChiLan1.0
SLC12A3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21866,316,962 - 66,386,655 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11672,237,646 - 72,307,205 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01637,142,797 - 37,193,713 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11656,276,026 - 56,326,973 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1656,276,049 - 56,324,528 (+)Ensemblpanpan1.1panPan2
SLC12A3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1259,413,737 - 59,449,129 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl259,413,828 - 59,449,081 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha256,042,573 - 56,077,948 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0259,952,797 - 59,988,344 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl259,952,888 - 59,988,297 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1256,783,974 - 56,819,378 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0257,791,053 - 57,826,469 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0258,685,512 - 58,720,937 (-)NCBIUU_Cfam_GSD_1.0
Slc12a3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934950,512,705 - 50,545,228 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364759,044,106 - 9,076,307 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364759,044,099 - 9,076,301 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC12A3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl618,844,600 - 18,885,476 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1618,844,752 - 18,885,497 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
SLC12A3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1542,808,773 - 42,877,714 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl542,811,597 - 42,862,002 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604733,488,318 - 33,536,531 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Slc12a3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474629,098,254 - 29,132,752 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474629,087,867 - 29,132,793 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SLC12A3
1468 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001126108.2(SLC12A3):c.525C>T (p.Ile175=) single nucleotide variant not provided [RCV001494533] Chr16:56869748 [GRCh38]
Chr16:56903660 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2910T>A (p.Ala970=) single nucleotide variant not provided [RCV001452660]|not specified [RCV000516374] Chr16:56904448 [GRCh38]
Chr16:56938360 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2549T>C (p.Leu850Pro) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000009115]|Inborn genetic diseases [RCV002512930]|SLC12A3-related condition [RCV003421914]|not provided [RCV000805008] Chr16:56894558 [GRCh38]
Chr16:56928470 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001126108.2(SLC12A3):c.1261T>C (p.Cys421Arg) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000009116]|not provided [RCV001224839] Chr16:56879153 [GRCh38]
Chr16:56913065 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.625C>T (p.Arg209Trp) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000009117]|not provided [RCV001381397] Chr16:56870119 [GRCh38]
Chr16:56904031 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1926-1G>T single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000009118]|not provided [RCV001061253] Chr16:56886363 [GRCh38]
Chr16:56920275 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000009119]|Familial hypokalemia-hypomagnesemia [RCV001328221]|not provided [RCV000518052] Chr16:56886402 [GRCh38]
Chr16:56920314 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001126108.2(SLC12A3):c.1964G>T (p.Arg655Leu) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000009120] Chr16:56886402 [GRCh38]
Chr16:56920314 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
NM_001126108.2(SLC12A3):c.2720+1G>T single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000009121] Chr16:56899617 [GRCh38]
Chr16:56933529 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1763C>T (p.Ala588Val) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000009122]|not provided [RCV001046660] Chr16:56884142 [GRCh38]
Chr16:56918054 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
NM_001126108.2(SLC12A3):c.1046C>T (p.Pro349Leu) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000009123]|not provided [RCV000820759] Chr16:56872737 [GRCh38]
Chr16:56906649 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
NM_001126108.2(SLC12A3):c.1680_1682del (p.Ser561del) deletion Familial hypokalemia-hypomagnesemia [RCV000009124] Chr16:56884058..56884060 [GRCh38]
Chr16:56917970..56917972 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1889G>T (p.Gly630Val) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000009125] Chr16:56885328 [GRCh38]
Chr16:56919240 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1868T>C (p.Leu623Pro) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000009126]|not provided [RCV001210434] Chr16:56885307 [GRCh38]
Chr16:56919219 [GRCh37]
Chr16:16q13		 pathogenic
SLC12A3, 2-BP DEL, 2881AG deletion Familial hypokalemia-hypomagnesemia [RCV000009128] Chr16:16q13 pathogenic
NM_001126108.2(SLC12A3):c.3026G>A (p.Arg1009Gln) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001807339]|not provided [RCV000729474] Chr16:56913365 [GRCh38]
Chr16:56947277 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.283del (p.Gln95fs) deletion Familial hypokalemia-hypomagnesemia [RCV000522635]|not provided [RCV001008776] Chr16:56867070 [GRCh38]
Chr16:56900982 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2470T>A (p.Ser824Thr) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001115549]|not provided [RCV000782230]|not specified [RCV000516874] Chr16:56893003 [GRCh38]
Chr16:56926915 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.73del (p.Leu25fs) deletion not provided [RCV000518246] Chr16:56865308 [GRCh38]
Chr16:56899220 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.179C>T (p.Thr60Met) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000087747]|not provided [RCV000489628] Chr16:56865414 [GRCh38]
Chr16:56899326 [GRCh37]
Chr16:16q13		 pathogenic
GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3 copy number gain See cases [RCV000052405] Chr16:56883592..71279975 [GRCh38]
Chr16:56917504..71313878 [GRCh37]
Chr16:55475005..69871379 [NCBI36]
Chr16:16q13-22.2		 pathogenic
NM_001126108.2(SLC12A3):c.1189G>A (p.Val397Met) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002504952]|Inborn genetic diseases [RCV002515739]|not provided [RCV000054600] Chr16:56879081 [GRCh38]
Chr16:56912993 [GRCh37]
Chr16:16q13		 likely benign|uncertain significance
NM_001126108.2(SLC12A3):c.1429G>A (p.Ala477Thr) single nucleotide variant not provided [RCV000054601] Chr16:56879635 [GRCh38]
Chr16:56913547 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1710G>A (p.Ala570=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001826708]|SLC12A3-related condition [RCV003944972]|not provided [RCV000054602] Chr16:56884089 [GRCh38]
Chr16:56918001 [GRCh37]
Chr16:16q13		 likely benign|uncertain significance
NM_001126108.2(SLC12A3):c.1956C>A (p.Pro652=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001276378]|not provided [RCV000054603] Chr16:56886394 [GRCh38]
Chr16:56920306 [GRCh37]
Chr16:16q13		 likely benign|uncertain significance
NM_001126108.2(SLC12A3):c.2310C>T (p.Gly770=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000388724]|not provided [RCV000054604] Chr16:56890298 [GRCh38]
Chr16:56924210 [GRCh37]
Chr16:16q13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001126108.2(SLC12A3):c.697A>G (p.Met233Val) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002283450]|not provided [RCV000054605] Chr16:56870191 [GRCh38]
Chr16:56904103 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.861G>T (p.Val287=) single nucleotide variant not provided [RCV000054606] Chr16:56872359 [GRCh38]
Chr16:56906271 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2516A>T (p.Asp839Val) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001310259]|not provided [RCV003770625] Chr16:56893049 [GRCh38]
Chr16:56926961 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic|uncertain significance
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000190624]|Familial hypokalemia-hypomagnesemia [RCV001328096]|Inherited renal tubular disease [RCV004017477]|Muscle weakness [RCV000626663]|SLC12A3-related condition [RCV003401040]|not provided [RCV000255367] Chr16:56887967 [GRCh38]
Chr16:56921879 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 16q12.2-21(chr16:55457477-63841622)x1 copy number loss See cases [RCV000133738] Chr16:55457477..63841622 [GRCh38]
Chr16:55491389..63875526 [GRCh37]
Chr16:54048890..62433027 [NCBI36]
Chr16:16q12.2-21		 pathogenic
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 copy number gain See cases [RCV000143425] Chr16:52899183..90088654 [GRCh38]
Chr16:52933095..90155062 [GRCh37]
Chr16:51490596..88682563 [NCBI36]
Chr16:16q12.2-24.3		 pathogenic
GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3 copy number gain See cases [RCV000143752] Chr16:49685521..68401712 [GRCh38]
Chr16:49719432..68435615 [GRCh37]
Chr16:48276933..66993116 [NCBI36]
Chr16:16q12.1-22.1		 pathogenic
NM_001126108.2(SLC12A3):c.815T>C (p.Leu272Pro) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000191129]|not provided [RCV000681951] Chr16:56870699 [GRCh38]
Chr16:56904611 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
NM_001126108.2(SLC12A3):c.1743del (p.Met581fs) deletion not provided [RCV000406463] Chr16:56884122 [GRCh38]
Chr16:56918034 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1732G>A (p.Val578Met) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000279337]|SLC12A3-related condition [RCV003417765]|not provided [RCV000901287] Chr16:56884111 [GRCh38]
Chr16:56918023 [GRCh37]
Chr16:16q13		 likely benign|uncertain significance
NM_001126108.2(SLC12A3):c.1944C>T (p.Leu648=) single nucleotide variant not provided [RCV001494052] Chr16:56886382 [GRCh38]
Chr16:56920294 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1338del (p.Thr446_Met447insTer) deletion Familial hypokalemia-hypomagnesemia [RCV000258950] Chr16:56879543 [GRCh38]
Chr16:56913455 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.506-1G>A single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000762971]|Familial hypokalemia-hypomagnesemia [RCV001328170]|SLC12A3-related condition [RCV003925548]|not provided [RCV000517374] Chr16:56869728 [GRCh38]
Chr16:56903640 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2089_2095del (p.Thr697fs) deletion Familial hypokalemia-hypomagnesemia [RCV001276379]|not provided [RCV000516310] Chr16:56887004..56887010 [GRCh38]
Chr16:56920916..56920922 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 copy number loss Breast ductal adenocarcinoma [RCV000207138] Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3		 uncertain significance
NM_001126108.2(SLC12A3):c.938C>T (p.Ala313Val) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001274377]|SLC12A3-related condition [RCV003409740]|not provided [RCV000516845] Chr16:56872436 [GRCh38]
Chr16:56906348 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1 copy number loss Breast ductal adenocarcinoma [RCV000207067] Chr16:55359026..70884455 [GRCh37]
Chr16:16q12.2-22.2		 likely pathogenic|uncertain significance
Single allele complex Breast ductal adenocarcinoma [RCV000207314] Chr16:56368689..90141355 [GRCh37]
Chr16:16q12.2-24.3		 uncertain significance
NM_001126108.2(SLC12A3):c.1195C>T (p.Arg399Cys) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000762972]|not provided [RCV000517680] Chr16:56879087 [GRCh38]
Chr16:56912999 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2954G>A (p.Cys985Tyr) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001271446]|not provided [RCV000517299] Chr16:56913293 [GRCh38]
Chr16:56947205 [GRCh37]
Chr16:16q13		 pathogenic|conflicting interpretations of pathogenicity
NM_001126108.2(SLC12A3):c.1395C>T (p.Thr465=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000377539]|not provided [RCV001512560]|not specified [RCV000246288] Chr16:56879601 [GRCh38]
Chr16:56913513 [GRCh37]
Chr16:16q13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001126108.2(SLC12A3):c.1023C>T (p.Phe341=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000398195]|not provided [RCV001511646]|not specified [RCV000244247] Chr16:56872714 [GRCh38]
Chr16:56906626 [GRCh37]
Chr16:16q13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001126108.2(SLC12A3):c.2142C>T (p.Ala714=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000358450]|not provided [RCV001521319]|not specified [RCV000242054] Chr16:56887057 [GRCh38]
Chr16:56920969 [GRCh37]
Chr16:16q13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001126108.2(SLC12A3):c.1210G>A (p.Val404Ile) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001807154]|not provided [RCV000898321]|not specified [RCV000249415] Chr16:56879102 [GRCh38]
Chr16:56913014 [GRCh37]
Chr16:16q13		 benign|likely benign
NM_001126108.2(SLC12A3):c.2598C>T (p.Gly866=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000387548]|not provided [RCV001521320]|not specified [RCV000242185] Chr16:56894607 [GRCh38]
Chr16:56928519 [GRCh37]
Chr16:16q13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001126108.2(SLC12A3):c.2721-13T>C single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000348013]|not provided [RCV001668425]|not specified [RCV000252138] Chr16:56902360 [GRCh38]
Chr16:56936272 [GRCh37]
Chr16:16q13		 benign|likely benign
NM_001126108.2(SLC12A3):c.1392C>A (p.Ala464=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000320785]|not provided [RCV000971159]|not specified [RCV000254490] Chr16:56879598 [GRCh38]
Chr16:56913510 [GRCh37]
Chr16:16q13		 benign|likely benign|uncertain significance
NM_001126108.2(SLC12A3):c.2711G>A (p.Arg904Gln) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000290680]|not provided [RCV001521321]|not specified [RCV000247381] Chr16:56899607 [GRCh38]
Chr16:56933519 [GRCh37]
Chr16:16q13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001126108.2(SLC12A3):c.941C>T (p.Ser314Phe) single nucleotide variant not specified [RCV000517426] Chr16:56872439 [GRCh38]
Chr16:56906351 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1865A>G (p.Asn622Ser) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000368165]|not provided [RCV000947704]|not specified [RCV000245158] Chr16:56885304 [GRCh38]
Chr16:56919216 [GRCh37]
Chr16:16q13		 benign|likely benign
NM_001126108.2(SLC12A3):c.2924+13C>T single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000301567]|not provided [RCV001512977]|not specified [RCV000247470] Chr16:56904475 [GRCh38]
Chr16:56938387 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.1884G>A (p.Ser628=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000395375]|not provided [RCV001515017]|not specified [RCV000249923] Chr16:56885323 [GRCh38]
Chr16:56919235 [GRCh37]
Chr16:16q13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001126108.2(SLC12A3):c.2857-17G>A single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001543032]|not provided [RCV001523530]|not specified [RCV000242696] Chr16:56904378 [GRCh38]
Chr16:56938290 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.2179-8C>T single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000318603]|not provided [RCV001511488]|not specified [RCV000245222] Chr16:56887917 [GRCh38]
Chr16:56921829 [GRCh37]
Chr16:16q13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001126108.2(SLC12A3):c.366A>G (p.Ala122=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000282943]|not provided [RCV001521318]|not specified [RCV000252641] Chr16:56867153 [GRCh38]
Chr16:56901065 [GRCh37]
Chr16:16q13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001126108.2(SLC12A3):c.249G>T (p.Arg83=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000341271]|not provided [RCV000891297]|not specified [RCV000250431] Chr16:56865484 [GRCh38]
Chr16:56899396 [GRCh37]
Chr16:16q13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001126108.2(SLC12A3):c.1825+9C>A single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000310936]|not provided [RCV001509778]|not specified [RCV000252942] Chr16:56884213 [GRCh38]
Chr16:56918125 [GRCh37]
Chr16:16q13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001126108.2(SLC12A3):c.1670-8T>C single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000338133]|not provided [RCV001512561]|not specified [RCV000248179] Chr16:56884041 [GRCh38]
Chr16:56917953 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.*1647C>T single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000282262] Chr16:56915052 [GRCh38]
Chr16:56948964 [GRCh37]
Chr16:16q13		 likely benign|uncertain significance
NM_001126108.2(SLC12A3):c.*576C>G single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000299747]|not provided [RCV003418007] Chr16:56913981 [GRCh38]
Chr16:56947893 [GRCh37]
Chr16:16q13		 likely benign|uncertain significance
NM_001126108.2(SLC12A3):c.2160C>T (p.Gly720=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000265886]|not provided [RCV001492657] Chr16:56887075 [GRCh38]
Chr16:56920987 [GRCh37]
Chr16:16q13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001126108.2(SLC12A3):c.*1524C>T single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000283553] Chr16:56914929 [GRCh38]
Chr16:56948841 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.1968G>A (p.Pro656=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000267192]|not provided [RCV000924763] Chr16:56886406 [GRCh38]
Chr16:56920318 [GRCh37]
Chr16:16q13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001126108.2(SLC12A3):c.1284C>T (p.Thr428=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000269299]|not provided [RCV000898595] Chr16:56879176 [GRCh38]
Chr16:56913088 [GRCh37]
Chr16:16q13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001126108.2(SLC12A3):c.1387G>A (p.Gly463Arg) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000286818]|not provided [RCV000414425] Chr16:56879593 [GRCh38]
Chr16:56913505 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic|uncertain significance
NM_001126108.2(SLC12A3):c.1980C>T (p.Asp660=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000305993]|not provided [RCV000932948] Chr16:56886418 [GRCh38]
Chr16:56920330 [GRCh37]
Chr16:16q13		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001126108.2(SLC12A3):c.*285T>C single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000274115] Chr16:56913690 [GRCh38]
Chr16:56947602 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.36C>T (p.Asp12=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000291919]|not provided [RCV000885797]|not specified [RCV001701851] Chr16:56865271 [GRCh38]
Chr16:56899183 [GRCh37]
Chr16:16q13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001126108.2(SLC12A3):c.2244G>A (p.Ser748=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000259802]|not provided [RCV001463707] Chr16:56887990 [GRCh38]
Chr16:56921902 [GRCh37]
Chr16:16q13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001126108.2(SLC12A3):c.*1851A>G single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000295138] Chr16:56915256 [GRCh38]
Chr16:56949168 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.2490C>T (p.Thr830=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000296678]|not provided [RCV001500964] Chr16:56893023 [GRCh38]
Chr16:56926935 [GRCh37]
Chr16:16q13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001126108.2(SLC12A3):c.2987C>A (p.Thr996Asn) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000261759]|not provided [RCV002522874] Chr16:56913326 [GRCh38]
Chr16:56947238 [GRCh37]
Chr16:16q13		 likely benign|uncertain significance
NM_001126108.2(SLC12A3):c.741+8C>T single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000298248]|not provided [RCV001498922] Chr16:56870243 [GRCh38]
Chr16:56904155 [GRCh37]
Chr16:16q13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001126108.2(SLC12A3):c.*752C>T single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000298505] Chr16:56914157 [GRCh38]
Chr16:56948069 [GRCh37]
Chr16:16q13		 likely benign|uncertain significance
NM_001126108.2(SLC12A3):c.1412C>A (p.Ala471Asp) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000280722] Chr16:56879618 [GRCh38]
Chr16:56913530 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.*2432T>C single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000319170] Chr16:56915837 [GRCh38]
Chr16:56949749 [GRCh37]
Chr16:16q13		 benign|likely benign
NM_001126108.2(SLC12A3):c.*2068C>G single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000365537] Chr16:56915473 [GRCh38]
Chr16:56949385 [GRCh37]
Chr16:16q13		 benign|likely benign
NM_001126108.2(SLC12A3):c.*209T>A single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000260631] Chr16:56913614 [GRCh38]
Chr16:56947526 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.*1266G>T single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000270070] Chr16:56914671 [GRCh38]
Chr16:56948583 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1249G>A (p.Glu417Lys) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000366193]|not provided [RCV001401125] Chr16:56879141 [GRCh38]
Chr16:56913053 [GRCh37]
Chr16:16q13		 likely benign|uncertain significance
NM_001126108.2(SLC12A3):c.*2318A>C single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000267365] Chr16:56915723 [GRCh38]
Chr16:56949635 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.*1000A>G single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000271085] Chr16:56914405 [GRCh38]
Chr16:56948317 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.*1532G>A single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000322184] Chr16:56914937 [GRCh38]
Chr16:56948849 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.*1301A>C single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000322827] Chr16:56914706 [GRCh38]
Chr16:56948618 [GRCh37]
Chr16:16q13		 benign|likely benign
NM_001126108.2(SLC12A3):c.*975A>G single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000367944] Chr16:56914380 [GRCh38]
Chr16:56948292 [GRCh37]
Chr16:16q13		 benign|likely benign
NM_001126108.2(SLC12A3):c.1176C>A (p.Thr392=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000368345]|not provided [RCV001490630] Chr16:56878157 [GRCh38]
Chr16:56912069 [GRCh37]
Chr16:16q13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001126108.2(SLC12A3):c.*836G>A single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000369573] Chr16:56914241 [GRCh38]
Chr16:56948153 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2920G>A (p.Val974Ile) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000394498]|SLC12A3-related condition [RCV003409501]|not provided [RCV002522873]|not specified [RCV003323514] Chr16:56904458 [GRCh38]
Chr16:56938370 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.*515_*516insA insertion Familial hypokalemia-hypomagnesemia [RCV000286726] Chr16:56913920..56913921 [GRCh38]
Chr16:56947832..56947833 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.*2084G>A single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000395317] Chr16:56915489 [GRCh38]
Chr16:56949401 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.*102T>C single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000300531] Chr16:56913507 [GRCh38]
Chr16:56947419 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1314C>T (p.Tyr438=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000326577]|not provided [RCV001405196] Chr16:56879206 [GRCh38]
Chr16:56913118 [GRCh37]
Chr16:16q13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001126108.2(SLC12A3):c.*931C>T single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000397448] Chr16:56914336 [GRCh38]
Chr16:56948248 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.*2412del deletion Familial hypokalemia-hypomagnesemia [RCV000261683] Chr16:56915815 [GRCh38]
Chr16:56949727 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1248C>T (p.Cys416=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000327911] Chr16:56879140 [GRCh38]
Chr16:56913052 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2578A>G (p.Lys860Glu) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000349367]|not provided [RCV002061202] Chr16:56894587 [GRCh38]
Chr16:56928499 [GRCh37]
Chr16:16q13		 likely benign|uncertain significance
NM_001126108.2(SLC12A3):c.2272A>C (p.Ile758Leu) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000317402] Chr16:56888018 [GRCh38]
Chr16:56921930 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.*2133T>C single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000307357] Chr16:56915538 [GRCh38]
Chr16:56949450 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.81C>G (p.Ser27Arg) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000328265]|not provided [RCV000963131] Chr16:56865316 [GRCh38]
Chr16:56899228 [GRCh37]
Chr16:16q13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001126108.2(SLC12A3):c.*1161A>G single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000328572] Chr16:56914566 [GRCh38]
Chr16:56948478 [GRCh37]
Chr16:16q13		 likely benign|uncertain significance
NM_001126108.2(SLC12A3):c.1774G>A (p.Ala592Thr) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000350646]|not provided [RCV001486238] Chr16:56884153 [GRCh38]
Chr16:56918065 [GRCh37]
Chr16:16q13		 likely benign|uncertain significance
NM_001126108.2(SLC12A3):c.2793C>T (p.Asn931=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000308439]|not provided [RCV000926245] Chr16:56902445 [GRCh38]
Chr16:56936357 [GRCh37]
Chr16:16q13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001126108.2(SLC12A3):c.*205A>G single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000353145]|not provided [RCV001613026] Chr16:56913610 [GRCh38]
Chr16:56947522 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.*524dup duplication Familial hypokalemia-hypomagnesemia [RCV000344175] Chr16:56913919..56913920 [GRCh38]
Chr16:56947831..56947832 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1229C>A (p.Thr410Asn) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000275223] Chr16:56879121 [GRCh38]
Chr16:56913033 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1926-10C>G single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000310027]|not provided [RCV001514389] Chr16:56886354 [GRCh38]
Chr16:56920266 [GRCh37]
Chr16:16q13		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001126108.2(SLC12A3):c.774C>T (p.Asn258=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000353248]|not provided [RCV000881963] Chr16:56870658 [GRCh38]
Chr16:56904570 [GRCh37]
Chr16:16q13		 benign|likely benign|uncertain significance
NM_001126108.2(SLC12A3):c.1386C>T (p.Phe462=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000378908]|not provided [RCV000917794] Chr16:56879592 [GRCh38]
Chr16:56913504 [GRCh37]
Chr16:16q13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001126108.2(SLC12A3):c.*735C>T single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000402670] Chr16:56914140 [GRCh38]
Chr16:56948052 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.*2030T>C single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000403591] Chr16:56915435 [GRCh38]
Chr16:56949347 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.*960A>T single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000311040] Chr16:56914365 [GRCh38]
Chr16:56948277 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.*1624C>T single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000374454] Chr16:56915029 [GRCh38]
Chr16:56948941 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.247C>T (p.Arg83Trp) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000380828]|not provided [RCV000809022] Chr16:56865482 [GRCh38]
Chr16:56899394 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
NM_001126108.2(SLC12A3):c.2755C>T (p.Arg919Cys) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000405253]|not provided [RCV001520642]|not specified [RCV001701952] Chr16:56902407 [GRCh38]
Chr16:56936319 [GRCh37]
Chr16:16q13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001126108.2(SLC12A3):c.1696A>T (p.Asn566Tyr) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000405977]|not provided [RCV002521054] Chr16:56884075 [GRCh38]
Chr16:56917987 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1825+5G>A single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000405772]|Inborn genetic diseases [RCV002521055]|not provided [RCV000896914] Chr16:56884209 [GRCh38]
Chr16:56918121 [GRCh37]
Chr16:16q13		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001126108.2(SLC12A3):c.*2051C>T single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000313187] Chr16:56915456 [GRCh38]
Chr16:56949368 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1125C>A (p.Thr375=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000313622]|not provided [RCV002521053] Chr16:56878106 [GRCh38]
Chr16:56912018 [GRCh37]
Chr16:16q13		 likely benign|uncertain significance
NM_001126108.2(SLC12A3):c.*1674C>T single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000334980] Chr16:56915079 [GRCh38]
Chr16:56948991 [GRCh37]
Chr16:16q13		 benign|likely benign
NM_001126108.2(SLC12A3):c.2964G>A (p.Ser988=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000358731]|SLC12A3-related condition [RCV003922350]|not provided [RCV000889138] Chr16:56913303 [GRCh38]
Chr16:56947215 [GRCh37]
Chr16:16q13		 benign|likely benign|uncertain significance
NM_001126108.2(SLC12A3):c.*404C>T single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000383681] Chr16:56913809 [GRCh38]
Chr16:56947721 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.286G>A (p.Glu96Lys) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000403684] Chr16:56867073 [GRCh38]
Chr16:56900985 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.*1745T>C single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000404546] Chr16:56915150 [GRCh38]
Chr16:56949062 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.*664G>C single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000338051] Chr16:56914069 [GRCh38]
Chr16:56947981 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.409G>A (p.Gly137Ser) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000338022]|not provided [RCV002522872] Chr16:56867196 [GRCh38]
Chr16:56901108 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.-5C>T single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000386144] Chr16:56865231 [GRCh38]
Chr16:56899143 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.*516T>A single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000339368] Chr16:56913921 [GRCh38]
Chr16:56947833 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.1925G>A (p.Arg642His) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000362354]|not provided [RCV000993002] Chr16:56885364 [GRCh38]
Chr16:56919276 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.*1204T>C single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000362263] Chr16:56914609 [GRCh38]
Chr16:56948521 [GRCh37]
Chr16:16q13		 benign|likely benign
NM_001126108.2(SLC12A3):c.2863C>T (p.Arg955Trp) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000341379]|Familial hypokalemia-hypomagnesemia [RCV001328102]|not provided [RCV001389305] Chr16:56904401 [GRCh38]
Chr16:56938313 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001126108.2(SLC12A3):c.*2295T>C single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000364324] Chr16:56915700 [GRCh38]
Chr16:56949612 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.*282T>A single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000389146] Chr16:56913687 [GRCh38]
Chr16:56947599 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.422G>C (p.Gly141Ala) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000390731] Chr16:56867209 [GRCh38]
Chr16:56901121 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1216A>C (p.Asn406His) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000490283]|not provided [RCV002515599] Chr16:56879108 [GRCh38]
Chr16:56913020 [GRCh37]
Chr16:16q13		 pathogenic|uncertain significance
NM_001126108.2(SLC12A3):c.2546T>A (p.Leu849His) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000490297]|not provided [RCV000713330] Chr16:56894555 [GRCh38]
Chr16:56928467 [GRCh37]
Chr16:16q13		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001126108.2(SLC12A3):c.843_846dup (p.Ser283fs) duplication Familial hypokalemia-hypomagnesemia [RCV003314331] Chr16:56870725..56870726 [GRCh38]
Chr16:56904637..56904638 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.1706C>T (p.Ala569Val) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000490395]|not provided [RCV001753636] Chr16:56884085 [GRCh38]
Chr16:56917997 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.*1323G>C single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000380379] Chr16:56914728 [GRCh38]
Chr16:56948640 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.*495G>A single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000291701] Chr16:56913900 [GRCh38]
Chr16:56947812 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.450T>G (p.Ile150Met) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001829478]|not specified [RCV000516444] Chr16:56868317 [GRCh38]
Chr16:56902229 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.*349G>A single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000331480] Chr16:56913754 [GRCh38]
Chr16:56947666 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.*524del deletion Familial hypokalemia-hypomagnesemia [RCV000382461] Chr16:56913920 [GRCh38]
Chr16:56947832 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.*243C>T single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000332205] Chr16:56913648 [GRCh38]
Chr16:56947560 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.*518T>A single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000403499] Chr16:56913923 [GRCh38]
Chr16:56947835 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.*2358T>C single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000320338] Chr16:56915763 [GRCh38]
Chr16:56949675 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.*1896A>T single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000352761] Chr16:56915301 [GRCh38]
Chr16:56949213 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.*2378A>T single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000358784] Chr16:56915783 [GRCh38]
Chr16:56949695 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.*1142C>G single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001120645] Chr16:56914547 [GRCh38]
Chr16:56948459 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2225T>G (p.Phe742Cys) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001120453] Chr16:56887971 [GRCh38]
Chr16:56921883 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.*53A>G single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001120551] Chr16:56913458 [GRCh38]
Chr16:56947370 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.965C>T (p.Ala322Val) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000989608]|Inborn genetic diseases [RCV004024751]|SLC12A3-related condition [RCV003935605]|not provided [RCV000591358]|not specified [RCV003488715] Chr16:56872656 [GRCh38]
Chr16:56906568 [GRCh37]
Chr16:16q13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001126108.2(SLC12A3):c.2186G>A (p.Gly729Asp) single nucleotide variant not provided [RCV000412838] Chr16:56887932 [GRCh38]
Chr16:56921844 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.2856+1G>T single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001271445]|Familial hypokalemia-hypomagnesemia [RCV001328169]|not provided [RCV000412851] Chr16:56902509 [GRCh38]
Chr16:56936421 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
NM_001126108.2(SLC12A3):c.1924C>G (p.Arg642Gly) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000449562]|not provided [RCV001239291] Chr16:56885363 [GRCh38]
Chr16:56919275 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 copy number gain See cases [RCV000446110] Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_001126108.2(SLC12A3):c.2554C>T (p.Arg852Cys) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000504824]|not provided [RCV000823519] Chr16:56894563 [GRCh38]
Chr16:56928475 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1625TCA[1] (p.Ile543del) microsatellite not provided [RCV000713327] Chr16:56882453..56882455 [GRCh38]
Chr16:56916365..56916367 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2521G>A (p.Gly841Ser) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000505156] Chr16:56893054 [GRCh38]
Chr16:56926966 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1196G>T (p.Arg399Leu) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000762973]|not provided [RCV000439274] Chr16:56879088 [GRCh38]
Chr16:56913000 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
NM_001126108.2(SLC12A3):c.1276A>T (p.Asn426Tyr) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000454555] Chr16:56879168 [GRCh38]
Chr16:56913080 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2864G>A (p.Arg955Gln) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000477802]|Inborn genetic diseases [RCV002525742]|not provided [RCV000681947] Chr16:56904402 [GRCh38]
Chr16:56938314 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
NM_001126108.2(SLC12A3):c.2182G>A (p.Ala728Thr) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001120452]|not provided [RCV001520029]|not specified [RCV000455191] Chr16:56887928 [GRCh38]
Chr16:56921840 [GRCh37]
Chr16:16q13		 benign|likely benign
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000477915]|Familial hypokalemia-hypomagnesemia [RCV001328101]|Inborn genetic diseases [RCV004023099]|not provided [RCV000681948] Chr16:56886366 [GRCh38]
Chr16:56920278 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001126108.2(SLC12A3):c.1126del (p.Leu376fs) deletion not provided [RCV000478305] Chr16:56878105 [GRCh38]
Chr16:56912017 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1180+1G>T single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000501643]|not provided [RCV000681791] Chr16:56878162 [GRCh38]
Chr16:56912074 [GRCh37]
Chr16:16q13		 pathogenic|conflicting interpretations of pathogenicity
GRCh37/hg19 16p11.2-q21(chr16:34197492-64509054)x3 copy number gain See cases [RCV000511791] Chr16:34197492..64509054 [GRCh37]
Chr16:16p11.2-q21		 pathogenic
GRCh37/hg19 16q12.2-13(chr16:56492890-57056368)x3 copy number gain See cases [RCV000511577] Chr16:56492890..57056368 [GRCh37]
Chr16:16q12.2-13		 uncertain significance
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3		 uncertain significance
NM_001126108.2(SLC12A3):c.460A>T (p.Ile154Phe) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002506193]|not provided [RCV000493117] Chr16:56868327 [GRCh38]
Chr16:56902239 [GRCh37]
Chr16:16q13		 likely pathogenic|conflicting interpretations of pathogenicity
NM_001126108.2(SLC12A3):c.3062A>G (p.Gln1021Arg) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001835938]|not provided [RCV000713332] Chr16:56913401 [GRCh38]
Chr16:56947313 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2938G>A (p.Gly980Arg) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000762975]|Familial hypokalemia-hypomagnesemia [RCV001328220]|Inborn genetic diseases [RCV004026827]|not provided [RCV000713331] Chr16:56913277 [GRCh38]
Chr16:56947189 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
NM_001126108.2(SLC12A3):c.2505G>A (p.Trp835Ter) single nucleotide variant not provided [RCV000713328] Chr16:56893038 [GRCh38]
Chr16:56926950 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2495A>G (p.Asp832Gly) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000576426]|not provided [RCV002526929] Chr16:56893028 [GRCh38]
Chr16:56926940 [GRCh37]
Chr16:16q13		 likely pathogenic|uncertain significance
NM_001126108.2(SLC12A3):c.1335+1_1335+6del deletion Familial hypokalemia-hypomagnesemia [RCV000578467] Chr16:56879227..56879232 [GRCh38]
Chr16:56913139..56913144 [GRCh37]
Chr16:16q13		 likely pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429] Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
NM_001126108.2(SLC12A3):c.1919A>G (p.Asn640Ser) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000576776]|not provided [RCV003556306] Chr16:56885358 [GRCh38]
Chr16:56919270 [GRCh37]
Chr16:16q13		 likely pathogenic|conflicting interpretations of pathogenicity
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
NM_001126108.2(SLC12A3):c.1539C>T (p.Tyr513=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001115447]|not provided [RCV000514019]|not specified [RCV000518560] Chr16:56880225 [GRCh38]
Chr16:56914137 [GRCh37]
Chr16:16q13		 benign|likely benign
NM_001126108.2(SLC12A3):c.2576del (p.Cys859fs) deletion Familial hypokalemia-hypomagnesemia [RCV000625608] Chr16:56894585 [GRCh38]
Chr16:56928497 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.271T>C (p.Ser91Pro) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000625612] Chr16:56865506 [GRCh38]
Chr16:56899418 [GRCh37]
Chr16:16q13		 likely pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000778470]|Inborn genetic diseases [RCV002529351]|SLC12A3-related condition [RCV003424170]|not provided [RCV000681735]|not specified [RCV000607947] Chr16:56867150 [GRCh38]
Chr16:56901062 [GRCh37]
Chr16:16q13		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001126108.2(SLC12A3):c.1292C>G (p.Thr431Ser) single nucleotide variant Inborn genetic diseases [RCV003266200] Chr16:56879184 [GRCh38]
Chr16:56913096 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.791C>G (p.Ala264Gly) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000989607]|not provided [RCV001512559]|not specified [RCV000614700] Chr16:56870675 [GRCh38]
Chr16:56904587 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.2963C>T (p.Ser988Leu) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001120547]|not provided [RCV002527530]|not specified [RCV000517876] Chr16:56913302 [GRCh38]
Chr16:56947214 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.457G>A (p.Val153Met) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002289914]|Muscle weakness [RCV000626664]|not provided [RCV001860477] Chr16:56868324 [GRCh38]
Chr16:56902236 [GRCh37]
Chr16:16q13		 likely pathogenic|uncertain significance
NM_001126108.2(SLC12A3):c.1315G>A (p.Gly439Ser) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000760979]|Familial hypokalemia-hypomagnesemia [RCV001328223]|Inborn genetic diseases [RCV004026826]|not provided [RCV000713326] Chr16:56879207 [GRCh38]
Chr16:56913119 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.694G>A (p.Ala232Thr) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000662086]|not provided [RCV002530592] Chr16:56870188 [GRCh38]
Chr16:56904100 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.37G>C (p.Ala13Pro) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001119951]|Inborn genetic diseases [RCV004026174]|not provided [RCV000681930] Chr16:56865272 [GRCh38]
Chr16:56899184 [GRCh37]
Chr16:16q13		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001126108.2(SLC12A3):c.557G>A (p.Gly186Asp) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002245585]|not provided [RCV000681931] Chr16:56869780 [GRCh38]
Chr16:56903692 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3 copy number gain not provided [RCV000683820] Chr16:54416050..72453266 [GRCh37]
Chr16:16q12.2-22.2		 pathogenic
GRCh37/hg19 16q13(chr16:56917544-57046525)x3 copy number gain not provided [RCV000683822] Chr16:56917544..57046525 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1844C>T (p.Ser615Leu) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001807314]|not provided [RCV000681800] Chr16:56885283 [GRCh38]
Chr16:56919195 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
NM_001126108.2(SLC12A3):c.2623G>A (p.Glu875Lys) single nucleotide variant not provided [RCV000681736] Chr16:56894632 [GRCh38]
Chr16:56928544 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.2191G>A (p.Gly731Arg) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000762974]|not provided [RCV000681801] Chr16:56887937 [GRCh38]
Chr16:56921849 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
NM_001126108.2(SLC12A3):c.1669+5G>A single nucleotide variant not provided [RCV000713333] Chr16:56882502 [GRCh38]
Chr16:56916414 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2533del (p.Leu845fs) deletion Familial hypokalemia-hypomagnesemia [RCV001825428]|Inborn genetic diseases [RCV002534517]|not provided [RCV000713329] Chr16:56894541 [GRCh38]
Chr16:56928453 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2273T>G (p.Ile758Ser) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001004938] Chr16:56888019 [GRCh38]
Chr16:56921931 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2303A>T (p.Asn768Ile) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001579127] Chr16:56890291 [GRCh38]
Chr16:56924203 [GRCh37]
Chr16:16q13		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_001126108.2(SLC12A3):c.2369-101C>T single nucleotide variant not provided [RCV001644381] Chr16:56891982 [GRCh38]
Chr16:56925894 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.2179-122T>A single nucleotide variant not provided [RCV001541423] Chr16:56887803 [GRCh38]
Chr16:56921715 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1543A>G (p.Ile515Val) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001115448]|not provided [RCV000896513] Chr16:56880229 [GRCh38]
Chr16:56914141 [GRCh37]
Chr16:16q13		 benign|likely benign
NM_001126108.2(SLC12A3):c.2179-131_2179-121del deletion not provided [RCV001707966] Chr16:56887793..56887803 [GRCh38]
Chr16:56921705..56921715 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.2368+10T>C single nucleotide variant not provided [RCV000979558] Chr16:56890366 [GRCh38]
Chr16:56924278 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1096-133G>T single nucleotide variant not provided [RCV001564092] Chr16:56877944 [GRCh38]
Chr16:56911856 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.505+5G>A single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001542490] Chr16:56868377 [GRCh38]
Chr16:56902289 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
NM_001126108.2(SLC12A3):c.1932G>A (p.Gln644=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001276377]|not provided [RCV000916699] Chr16:56886370 [GRCh38]
Chr16:56920282 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2634-127T>C single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001543015]|not provided [RCV001709730] Chr16:56899403 [GRCh38]
Chr16:56933315 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.2521+345dup duplication not provided [RCV001545992] Chr16:56893393..56893394 [GRCh38]
Chr16:56927305..56927306 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1670-111G>T single nucleotide variant not provided [RCV001691885] Chr16:56883938 [GRCh38]
Chr16:56917850 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.1113C>T (p.Ile371=) single nucleotide variant not provided [RCV000919756] Chr16:56878094 [GRCh38]
Chr16:56912006 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1176C>T (p.Thr392=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001120040]|SLC12A3-related condition [RCV003978349]|not provided [RCV000959942]|not specified [RCV001288428] Chr16:56878157 [GRCh38]
Chr16:56912069 [GRCh37]
Chr16:16q13		 benign|likely benign
NM_001126108.2(SLC12A3):c.1406C>A (p.Ala469Asp) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000786873] Chr16:56879612 [GRCh38]
Chr16:56913524 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.2378T>C (p.Val793Ala) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001115546] Chr16:56892092 [GRCh38]
Chr16:56926004 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.*1456A>G single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001115728] Chr16:56914861 [GRCh38]
Chr16:56948773 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.282+111G>A single nucleotide variant not provided [RCV001581543] Chr16:56865628 [GRCh38]
Chr16:56899540 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.852+130C>A single nucleotide variant not provided [RCV001578003] Chr16:56870866 [GRCh38]
Chr16:56904778 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.514T>C (p.Trp172Arg) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002243433]|not provided [RCV001702309] Chr16:56869737 [GRCh38]
Chr16:56903649 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
NM_001126108.2(SLC12A3):c.509T>C (p.Leu170Pro) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000786876] Chr16:56869732 [GRCh38]
Chr16:56903644 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.1567+563C>T single nucleotide variant not provided [RCV001610109] Chr16:56880816 [GRCh38]
Chr16:56914728 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.2660G>A (p.Arg887Gln) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001276382]|not provided [RCV000993004] Chr16:56899556 [GRCh38]
Chr16:56933468 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
NM_001126108.2(SLC12A3):c.1567+7C>T single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001115450]|not provided [RCV001517360] Chr16:56880260 [GRCh38]
Chr16:56914172 [GRCh37]
Chr16:16q13		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001126108.2(SLC12A3):c.2521+340A>T single nucleotide variant not provided [RCV001550096] Chr16:56893394 [GRCh38]
Chr16:56927306 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.447C>T (p.Asn149=) single nucleotide variant not provided [RCV000904108] Chr16:56868314 [GRCh38]
Chr16:56902226 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1180+10C>T single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001120041]|not provided [RCV000966344] Chr16:56878171 [GRCh38]
Chr16:56912083 [GRCh37]
Chr16:16q13		 likely benign|uncertain significance
NM_001126108.2(SLC12A3):c.2857-7C>T single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001120240]|not provided [RCV000982261] Chr16:56904388 [GRCh38]
Chr16:56938300 [GRCh37]
Chr16:16q13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001126108.2(SLC12A3):c.966G>A (p.Ala322=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001274423]|not provided [RCV000972904] Chr16:56872657 [GRCh38]
Chr16:56906569 [GRCh37]
Chr16:16q13		 benign|uncertain significance
NM_001126108.2(SLC12A3):c.2082C>T (p.Asn694=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001120157]|not provided [RCV000897625] Chr16:56886997 [GRCh38]
Chr16:56920909 [GRCh37]
Chr16:16q13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001126108.2(SLC12A3):c.2007C>T (p.Leu669=) single nucleotide variant not provided [RCV000975847] Chr16:56886445 [GRCh38]
Chr16:56920357 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1362G>A (p.Ala454=) single nucleotide variant not provided [RCV000922262] Chr16:56879568 [GRCh38]
Chr16:56913480 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2420-8T>A single nucleotide variant not provided [RCV000915384] Chr16:56892945 [GRCh38]
Chr16:56926857 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2094G>A (p.Lys698=) single nucleotide variant not provided [RCV000942780] Chr16:56887009 [GRCh38]
Chr16:56920921 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2285+10_2285+12del deletion Familial hypokalemia-hypomagnesemia [RCV001276417]|not provided [RCV000897412] Chr16:56888039..56888041 [GRCh38]
Chr16:56921951..56921953 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.741+8C>G single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001274420]|not provided [RCV000976815] Chr16:56870243 [GRCh38]
Chr16:56904155 [GRCh37]
Chr16:16q13		 likely benign|uncertain significance
NM_001126108.2(SLC12A3):c.2514C>T (p.Asp838=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001277883]|not provided [RCV000902280] Chr16:56893047 [GRCh38]
Chr16:56926959 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1593C>T (p.Ile531=) single nucleotide variant not provided [RCV000944675] Chr16:56882421 [GRCh38]
Chr16:56916333 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2397C>T (p.Asp799=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001277882]|not provided [RCV000944684] Chr16:56892111 [GRCh38]
Chr16:56926023 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2073C>T (p.Leu691=) single nucleotide variant not provided [RCV000924928] Chr16:56886988 [GRCh38]
Chr16:56920900 [GRCh37]
Chr16:16q13		 likely benign
NC_000016.10:g.(?_56885255)_(56887103_?)del deletion not provided [RCV001031023] Chr16:56919167..56921015 [GRCh37]
Chr16:16q13		 pathogenic
NC_000016.10:g.(?_56902363)_(56904472_?)del deletion not provided [RCV001033950] Chr16:56936275..56938384 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1180+2T>C single nucleotide variant not provided [RCV001045146] Chr16:56878163 [GRCh38]
Chr16:56912075 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.184G>A (p.Asp62Asn) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001807378]|not provided [RCV001046841] Chr16:56865419 [GRCh38]
Chr16:56899331 [GRCh37]
Chr16:16q13		 likely pathogenic|conflicting interpretations of pathogenicity
NC_000016.10:g.56865094C>T single nucleotide variant not provided [RCV001608802] Chr16:56865094 [GRCh38]
Chr16:56899006 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.1963C>T (p.Arg655Cys) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001281278]|not provided [RCV001042994] Chr16:56886401 [GRCh38]
Chr16:56920313 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
NM_001126108.2(SLC12A3):c.3025C>T (p.Arg1009Ter) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001328173]|Familial hypokalemia-hypomagnesemia [RCV001813809]|not provided [RCV001036419] Chr16:56913364 [GRCh38]
Chr16:56947276 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.248G>A (p.Arg83Gln) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000779192]|not provided [RCV001040338] Chr16:56865483 [GRCh38]
Chr16:56899395 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
NM_001126108.2(SLC12A3):c.1946C>T (p.Thr649Met) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000779193]|not provided [RCV000993003] Chr16:56886384 [GRCh38]
Chr16:56920296 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
NM_001126108.2(SLC12A3):c.434G>A (p.Arg145His) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000778471]|Inborn genetic diseases [RCV002536732]|not provided [RCV001379908] Chr16:56868301 [GRCh38]
Chr16:56902213 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001126108.2(SLC12A3):c.1390G>A (p.Ala464Thr) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000778472]|not provided [RCV001224209] Chr16:56879596 [GRCh38]
Chr16:56913508 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
NM_001126108.2(SLC12A3):c.1606T>C (p.Phe536Leu) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000778473] Chr16:56882434 [GRCh38]
Chr16:56916346 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.404G>A (p.Arg135His) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000778908]|not provided [RCV002535643] Chr16:56867191 [GRCh38]
Chr16:56901103 [GRCh37]
Chr16:16q13		 likely pathogenic|uncertain significance
NM_001126108.2(SLC12A3):c.2633+7G>A single nucleotide variant not provided [RCV000944372] Chr16:56894649 [GRCh38]
Chr16:56928561 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1002G>A (p.Arg334=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001274424]|not provided [RCV000901195] Chr16:56872693 [GRCh38]
Chr16:56906605 [GRCh37]
Chr16:16q13		 benign|uncertain significance
NM_001126108.2(SLC12A3):c.602-4A>T single nucleotide variant not provided [RCV000980432] Chr16:56870092 [GRCh38]
Chr16:56904004 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2672A>G (p.His891Arg) single nucleotide variant not provided [RCV000902888] Chr16:56899568 [GRCh38]
Chr16:56933480 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.945A>G (p.Lys315=) single nucleotide variant not provided [RCV000978279] Chr16:56872443 [GRCh38]
Chr16:56906355 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.791= (p.Ala264=) variation not provided [RCV000950250] Chr16:56870675 [GRCh38]
Chr16:56904587 [GRCh37]
Chr16:16q13		 benign|likely benign
NM_001126108.2(SLC12A3):c.2285+7C>T single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002503121]|not provided [RCV000977777] Chr16:56888038 [GRCh38]
Chr16:56921950 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1611C>G (p.Leu537=) single nucleotide variant not provided [RCV000982395] Chr16:56882439 [GRCh38]
Chr16:56916351 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.93C>T (p.Pro31=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001273919]|not provided [RCV000921311] Chr16:56865328 [GRCh38]
Chr16:56899240 [GRCh37]
Chr16:16q13		 benign|likely benign
NM_001126108.2(SLC12A3):c.2937A>T (p.Ile979=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001276419]|not provided [RCV000975691] Chr16:56913276 [GRCh38]
Chr16:56947188 [GRCh37]
Chr16:16q13		 likely benign|uncertain significance
NM_001126108.2(SLC12A3):c.741+9G>A single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002505485]|not provided [RCV000975767] Chr16:56870244 [GRCh38]
Chr16:56904156 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2856+9A>T single nucleotide variant not provided [RCV000941863] Chr16:56902517 [GRCh38]
Chr16:56936429 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.852+7_852+9del microsatellite Familial hypokalemia-hypomagnesemia [RCV001274422]|not provided [RCV000909291] Chr16:56870739..56870741 [GRCh38]
Chr16:56904651..56904653 [GRCh37]
Chr16:16q13		 likely benign|uncertain significance
NM_001126108.2(SLC12A3):c.307C>T (p.Leu103=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001807370]|SLC12A3-related condition [RCV003930606]|not provided [RCV000884093] Chr16:56867094 [GRCh38]
Chr16:56901006 [GRCh37]
Chr16:16q13		 benign|likely benign
NM_001126108.2(SLC12A3):c.1181-5C>T single nucleotide variant not provided [RCV000981034] Chr16:56879068 [GRCh38]
Chr16:56912980 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2634-9G>A single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001276418]|not provided [RCV000981050] Chr16:56899521 [GRCh38]
Chr16:56933433 [GRCh37]
Chr16:16q13		 likely benign|uncertain significance
NM_001126108.2(SLC12A3):c.1698C>A (p.Asn566Lys) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001826995]|not provided [RCV000942075] Chr16:56884077 [GRCh38]
Chr16:56917989 [GRCh37]
Chr16:16q13		 benign|likely benign
NM_001126108.2(SLC12A3):c.408C>T (p.Phe136=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001274417]|not provided [RCV000921678] Chr16:56867195 [GRCh38]
Chr16:56901107 [GRCh37]
Chr16:16q13		 likely benign|uncertain significance
NM_001126108.2(SLC12A3):c.1254G>A (p.Gly418=) single nucleotide variant not provided [RCV000977668] Chr16:56879146 [GRCh38]
Chr16:56913058 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.742-6C>T single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001274421]|SLC12A3-related condition [RCV003958209]|not provided [RCV000904904] Chr16:56870620 [GRCh38]
Chr16:56904532 [GRCh37]
Chr16:16q13		 likely benign|uncertain significance
NM_001126108.2(SLC12A3):c.2172C>T (p.Leu724=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001276380]|not provided [RCV000884255] Chr16:56887087 [GRCh38]
Chr16:56920999 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2190C>T (p.Leu730=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001276416]|SLC12A3-related condition [RCV003936185]|not provided [RCV000974287]|not specified [RCV001288430] Chr16:56887936 [GRCh38]
Chr16:56921848 [GRCh37]
Chr16:16q13		 benign|likely benign
NM_001126108.2(SLC12A3):c.2368+8C>A single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001276381]|not provided [RCV000884616] Chr16:56890364 [GRCh38]
Chr16:56924276 [GRCh37]
Chr16:16q13		 benign|likely benign
NM_001126108.2(SLC12A3):c.429+9G>A single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001274418]|SLC12A3-related condition [RCV003967999]|not provided [RCV000881962] Chr16:56867225 [GRCh38]
Chr16:56901137 [GRCh37]
Chr16:16q13		 benign|likely benign|uncertain significance
NM_001126108.2(SLC12A3):c.1803C>T (p.Leu601=) single nucleotide variant not provided [RCV000976554] Chr16:56884182 [GRCh38]
Chr16:56918094 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2673T>C (p.His891=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001825840]|not provided [RCV000916123] Chr16:56899569 [GRCh38]
Chr16:56933481 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2961C>T (p.Ser987=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002503115]|SLC12A3-related condition [RCV003936208]|not provided [RCV000977049] Chr16:56913300 [GRCh38]
Chr16:56947212 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1336-3C>A single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001029849]|not provided [RCV001862423] Chr16:56879539 [GRCh38]
Chr16:56913451 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.744G>A (p.Glu248=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002505486]|not provided [RCV000976216] Chr16:56870628 [GRCh38]
Chr16:56904540 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1670-191C>T single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001251115]|SLC12A3-related condition [RCV003928288]|not provided [RCV000823626] Chr16:56883858 [GRCh38]
Chr16:56917770 [GRCh37]
Chr16:16q13		 pathogenic|conflicting interpretations of pathogenicity
NM_001126108.2(SLC12A3):c.2420-5T>A single nucleotide variant not provided [RCV000893059] Chr16:56892948 [GRCh38]
Chr16:56926860 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2285+2T>C single nucleotide variant not provided [RCV000796768] Chr16:56888033 [GRCh38]
Chr16:56921945 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.1926-377_2121del deletion not provided [RCV000813262] Chr16:56885984..56887033 [GRCh38]
Chr16:56919896..56920945 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.2857-8C>G single nucleotide variant not provided [RCV000915636] Chr16:56904387 [GRCh38]
Chr16:56938299 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.268C>T (p.His90Tyr) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001825611]|not provided [RCV000809019] Chr16:56865503 [GRCh38]
Chr16:56899415 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
NM_001126108.2(SLC12A3):c.1188C>A (p.Cys396Ter) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002282370]|not provided [RCV000800647] Chr16:56879080 [GRCh38]
Chr16:56912992 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
GRCh37/hg19 16q12.2-21(chr16:53455650-64006604)x3 copy number gain not provided [RCV000848548] Chr16:53455650..64006604 [GRCh37]
Chr16:16q12.2-21		 uncertain significance
NM_001126108.2(SLC12A3):c.438C>A (p.Cys146Ter) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002501092]|not provided [RCV000807657] Chr16:56868305 [GRCh38]
Chr16:56902217 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
NM_001126108.2(SLC12A3):c.473G>A (p.Arg158Gln) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001251514]|not provided [RCV000802180] Chr16:56868340 [GRCh38]
Chr16:56902252 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic|uncertain significance
NM_001126108.2(SLC12A3):c.2253G>A (p.Pro751=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001115545]|not provided [RCV001414065] Chr16:56887999 [GRCh38]
Chr16:56921911 [GRCh37]
Chr16:16q13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001126108.2(SLC12A3):c.*1446G>T single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001115727] Chr16:56914851 [GRCh38]
Chr16:56948763 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1456G>A (p.Asp486Asn) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001276374]|not provided [RCV000795994] Chr16:56880142 [GRCh38]
Chr16:56914054 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
NM_001126108.2(SLC12A3):c.*1978T>G single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001117158] Chr16:56915383 [GRCh38]
Chr16:56949295 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.976del (p.Val326fs) deletion not provided [RCV000806542] Chr16:56872667 [GRCh38]
Chr16:56906579 [GRCh37]
Chr16:16q13		 pathogenic
NC_000016.10:g.(?_56869719)_(56870746_?)del deletion not provided [RCV000798817] Chr16:56869719..56870746 [GRCh38]
Chr16:56903631..56904658 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.237_238dup (p.Arg80fs) duplication Familial hypokalemia-hypomagnesemia [RCV001274375]|not provided [RCV000809020] Chr16:56865469..56865470 [GRCh38]
Chr16:56899381..56899382 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1017C>T (p.Thr339=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001118514]|not provided [RCV002069918] Chr16:56872708 [GRCh38]
Chr16:56906620 [GRCh37]
Chr16:16q13		 likely benign|uncertain significance
NM_001126108.2(SLC12A3):c.1664C>T (p.Ser555Leu) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001276376]|Inborn genetic diseases [RCV002537028]|not provided [RCV000796506] Chr16:56882492 [GRCh38]
Chr16:56916404 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
NM_001126108.2(SLC12A3):c.3024C>T (p.Ile1008=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001120549]|SLC12A3-related condition [RCV003926179]|not provided [RCV000962411] Chr16:56913363 [GRCh38]
Chr16:56947275 [GRCh37]
Chr16:16q13		 benign|likely benign
NM_001126108.2(SLC12A3):c.539C>A (p.Thr180Lys) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001115368]|not provided [RCV000803323] Chr16:56869762 [GRCh38]
Chr16:56903674 [GRCh37]
Chr16:16q13		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001126108.2(SLC12A3):c.2721-1G>A single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001276383]|Inborn genetic diseases [RCV002537234]|not provided [RCV000806887] Chr16:56902372 [GRCh38]
Chr16:56936284 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.283-2A>C single nucleotide variant not provided [RCV000807034] Chr16:56867068 [GRCh38]
Chr16:56900980 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.345T>C (p.Asp115=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001274416]|not provided [RCV000980444] Chr16:56867132 [GRCh38]
Chr16:56901044 [GRCh37]
Chr16:16q13		 likely benign|uncertain significance
NM_001126108.2(SLC12A3):c.390C>T (p.Pro130=) single nucleotide variant not provided [RCV000980597] Chr16:56867177 [GRCh38]
Chr16:56901089 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.*2405C>T single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001120747] Chr16:56915810 [GRCh38]
Chr16:56949722 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2563A>C (p.Arg855=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001116971]|not provided [RCV001406118] Chr16:56894572 [GRCh38]
Chr16:56928484 [GRCh37]
Chr16:16q13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001126108.2(SLC12A3):c.*458T>C single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001117065] Chr16:56913863 [GRCh38]
Chr16:56947775 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.391G>A (p.Glu131Lys) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001121943]|not provided [RCV000993005] Chr16:56867178 [GRCh38]
Chr16:56901090 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1783G>A (p.Val595Met) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001118612]|Inborn genetic diseases [RCV004032210] Chr16:56884162 [GRCh38]
Chr16:56918074 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.*18C>G single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001120550] Chr16:56913423 [GRCh38]
Chr16:56947335 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.*1985G>A single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001118788] Chr16:56915390 [GRCh38]
Chr16:56949302 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1114C>A (p.Pro372Thr) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001120039] Chr16:56878095 [GRCh38]
Chr16:56912007 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2419+9C>T single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001115548] Chr16:56892142 [GRCh38]
Chr16:56926054 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.*1512G>A single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001115729] Chr16:56914917 [GRCh38]
Chr16:56948829 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.*2423C>T single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001115810] Chr16:56915828 [GRCh38]
Chr16:56949740 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2129C>T (p.Ser710Leu) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001120449]|not provided [RCV002558193] Chr16:56887044 [GRCh38]
Chr16:56920956 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2153G>A (p.Arg718His) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001120451]|not provided [RCV002556585] Chr16:56887068 [GRCh38]
Chr16:56920980 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.472C>T (p.Arg158Trp) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001832310]|not provided [RCV000993006] Chr16:56868339 [GRCh38]
Chr16:56902251 [GRCh37]
Chr16:16q13		 conflicting interpretations of pathogenicity|uncertain significance
NM_001126108.2(SLC12A3):c.2850_2851del (p.Arg950fs) microsatellite Familial hypokalemia-hypomagnesemia [RCV001832488]|not provided [RCV001053105] Chr16:56902500..56902501 [GRCh38]
Chr16:56936412..56936413 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1742T>C (p.Met581Thr) single nucleotide variant not provided [RCV001963929] Chr16:56884121 [GRCh38]
Chr16:56918033 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.56_57dup (p.Phe20fs) microsatellite Familial hypokalemia-hypomagnesemia [RCV001832505]|not provided [RCV001055691] Chr16:56865288..56865289 [GRCh38]
Chr16:56899200..56899201 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
NM_001126108.2(SLC12A3):c.488C>T (p.Thr163Met) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001807148]|not provided [RCV001221896] Chr16:56868355 [GRCh38]
Chr16:56902267 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1145C>T (p.Thr382Met) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001536124]|not provided [RCV001223584] Chr16:56878126 [GRCh38]
Chr16:56912038 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001126108.2(SLC12A3):c.817dup (p.Ala273fs) duplication Familial hypokalemia-hypomagnesemia [RCV001828761]|not provided [RCV001221072] Chr16:56870699..56870700 [GRCh38]
Chr16:56904611..56904612 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1049C>T (p.Ser350Leu) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001832309]|not provided [RCV000993001] Chr16:56872740 [GRCh38]
Chr16:56906652 [GRCh37]
Chr16:16q13		 conflicting interpretations of pathogenicity|uncertain significance
NM_001126108.2(SLC12A3):c.1924C>T (p.Arg642Cys) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001833878]|not provided [RCV001215299] Chr16:56885363 [GRCh38]
Chr16:56919275 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1077C>G (p.Asn359Lys) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001833866]|not provided [RCV001213207] Chr16:56872768 [GRCh38]
Chr16:56906680 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.205C>A (p.His69Asn) single nucleotide variant not specified [RCV003317730] Chr16:56865440 [GRCh38]
Chr16:56899352 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.430-12C>T single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001115367]|not provided [RCV003574831] Chr16:56868285 [GRCh38]
Chr16:56902197 [GRCh37]
Chr16:16q13		 likely benign|uncertain significance
NM_001126108.2(SLC12A3):c.2413G>A (p.Ala805Thr) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001115547]|not provided [RCV001503745] Chr16:56892127 [GRCh38]
Chr16:56926039 [GRCh37]
Chr16:16q13		 likely benign|uncertain significance
NM_001126108.2(SLC12A3):c.161G>A (p.Arg54His) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001121941] Chr16:56865396 [GRCh38]
Chr16:56899308 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.975T>C (p.Phe325=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001118513]|not provided [RCV002069917] Chr16:56872666 [GRCh38]
Chr16:56906578 [GRCh37]
Chr16:16q13		 likely benign|uncertain significance
NM_001126108.2(SLC12A3):c.*2104G>C single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001118789] Chr16:56915509 [GRCh38]
Chr16:56949421 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2842A>T (p.Lys948Ter) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001807391]|not provided [RCV001201916] Chr16:56902494 [GRCh38]
Chr16:56936406 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.56G>A (p.Arg19His) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001832848]|not provided [RCV001663812] Chr16:56865291 [GRCh38]
Chr16:56899203 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2857-188T>C single nucleotide variant not provided [RCV001545208] Chr16:56904207 [GRCh38]
Chr16:56938119 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1096-29_1096-6del microsatellite not provided [RCV001580850] Chr16:56878021..56878044 [GRCh38]
Chr16:56911933..56911956 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2419+131G>A single nucleotide variant not provided [RCV001673815] Chr16:56892264 [GRCh38]
Chr16:56926176 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.2856+303G>A single nucleotide variant not provided [RCV001540543] Chr16:56902811 [GRCh38]
Chr16:56936723 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2368+232A>G single nucleotide variant not provided [RCV001560244] Chr16:56890588 [GRCh38]
Chr16:56924500 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2857-309T>C single nucleotide variant not provided [RCV001695464] Chr16:56904086 [GRCh38]
Chr16:56937998 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.852+117dup duplication not provided [RCV001617738] Chr16:56870840..56870841 [GRCh38]
Chr16:56904752..56904753 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.1336-35C>T single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001543010]|not provided [RCV001692470] Chr16:56879507 [GRCh38]
Chr16:56913419 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.1926-172G>A single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001543012]|not provided [RCV001692471] Chr16:56886192 [GRCh38]
Chr16:56920104 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.2856+238A>G single nucleotide variant not provided [RCV001651598] Chr16:56902746 [GRCh38]
Chr16:56936658 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.2521+346C>A single nucleotide variant not provided [RCV001688286] Chr16:56893400 [GRCh38]
Chr16:56927312 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.2856+142C>T single nucleotide variant not provided [RCV001576284] Chr16:56902650 [GRCh38]
Chr16:56936562 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.282+79T>G single nucleotide variant not provided [RCV001576411] Chr16:56865596 [GRCh38]
Chr16:56899508 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2856+38A>G single nucleotide variant not provided [RCV001598853] Chr16:56902546 [GRCh38]
Chr16:56936458 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.1335+1G>A single nucleotide variant not provided [RCV001723291] Chr16:56879228 [GRCh38]
Chr16:56913140 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
NM_001126108.2(SLC12A3):c.2856+231C>G single nucleotide variant not provided [RCV001556660] Chr16:56902739 [GRCh38]
Chr16:56936651 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1825+43G>A single nucleotide variant not provided [RCV001619994] Chr16:56884247 [GRCh38]
Chr16:56918159 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.1926-48C>T single nucleotide variant not provided [RCV001639271] Chr16:56886316 [GRCh38]
Chr16:56920228 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.1001G>A (p.Arg334Gln) single nucleotide variant not provided [RCV002284765] Chr16:56872692 [GRCh38]
Chr16:56906604 [GRCh37]
Chr16:16q13		 conflicting interpretations of pathogenicity|uncertain significance
NM_001126108.2(SLC12A3):c.1669+49A>G single nucleotide variant not provided [RCV001551251] Chr16:56882546 [GRCh38]
Chr16:56916458 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2857-120A>G single nucleotide variant not provided [RCV001557169] Chr16:56904275 [GRCh38]
Chr16:56938187 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2633+209C>T single nucleotide variant not provided [RCV001672339] Chr16:56894851 [GRCh38]
Chr16:56928763 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.2857-18C>T single nucleotide variant not provided [RCV001639796] Chr16:56904377 [GRCh38]
Chr16:56938289 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.1095+255del deletion not provided [RCV001667341] Chr16:56873041 [GRCh38]
Chr16:56906953 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.2522-339A>G single nucleotide variant not provided [RCV001694270] Chr16:56894192 [GRCh38]
Chr16:56928104 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.2521+357A>T single nucleotide variant not provided [RCV001639867] Chr16:56893411 [GRCh38]
Chr16:56927323 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.2857-173C>T single nucleotide variant not provided [RCV001563341] Chr16:56904222 [GRCh38]
Chr16:56938134 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2369-70T>C single nucleotide variant not provided [RCV001694263] Chr16:56892013 [GRCh38]
Chr16:56925925 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.2633+322A>C single nucleotide variant not provided [RCV001670595] Chr16:56894964 [GRCh38]
Chr16:56928876 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.2720+270C>G single nucleotide variant not provided [RCV001541505] Chr16:56899886 [GRCh38]
Chr16:56933798 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2179-151A>T single nucleotide variant not provided [RCV001617110] Chr16:56887774 [GRCh38]
Chr16:56921686 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.2522-227C>T single nucleotide variant not provided [RCV001715438] Chr16:56894304 [GRCh38]
Chr16:56928216 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.2857-160T>G single nucleotide variant not provided [RCV001617576] Chr16:56904235 [GRCh38]
Chr16:56938147 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.1188C>T (p.Cys396=) single nucleotide variant not provided [RCV000944315] Chr16:56879080 [GRCh38]
Chr16:56912992 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1269T>C (p.Tyr423=) single nucleotide variant not provided [RCV000922286] Chr16:56879161 [GRCh38]
Chr16:56913073 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2285+8G>A single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002505333]|not provided [RCV000910569]|not specified [RCV003489965] Chr16:56888039 [GRCh38]
Chr16:56921951 [GRCh37]
Chr16:16q13		 benign|likely benign|uncertain significance
NM_001126108.2(SLC12A3):c.2285+10G>A single nucleotide variant not provided [RCV000931668] Chr16:56888041 [GRCh38]
Chr16:56921953 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.462C>A (p.Ile154=) single nucleotide variant not provided [RCV000980126] Chr16:56868329 [GRCh38]
Chr16:56902241 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2343C>T (p.Asn781=) single nucleotide variant not provided [RCV000930966] Chr16:56890331 [GRCh38]
Chr16:56924243 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1623C>G (p.Ala541=) single nucleotide variant not provided [RCV000933208] Chr16:56882451 [GRCh38]
Chr16:56916363 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2028C>T (p.His676=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001120156]|not provided [RCV000900444] Chr16:56886466 [GRCh38]
Chr16:56920378 [GRCh37]
Chr16:16q13		 benign|conflicting interpretations of pathogenicity|uncertain significance
Single allele duplication not provided [RCV001542388] Chr16:46385317..61223349 [GRCh38]
Chr16:16q11.2-21		 pathogenic
NM_001126108.2(SLC12A3):c.2760G>C (p.Leu920=) single nucleotide variant not provided [RCV000918849] Chr16:56902412 [GRCh38]
Chr16:56936324 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1833T>C (p.Asn611=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001274427]|not provided [RCV000919438] Chr16:56885272 [GRCh38]
Chr16:56919184 [GRCh37]
Chr16:16q13		 likely benign|uncertain significance
NM_001126108.2(SLC12A3):c.2420-37T>A single nucleotide variant not provided [RCV001539516] Chr16:56892916 [GRCh38]
Chr16:56926828 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.928G>A (p.Glu310Lys) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001118512]|not provided [RCV000885798] Chr16:56872426 [GRCh38]
Chr16:56906338 [GRCh37]
Chr16:16q13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001126108.2(SLC12A3):c.1561A>G (p.Ile521Val) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001274425]|not provided [RCV000884094] Chr16:56880247 [GRCh38]
Chr16:56914159 [GRCh37]
Chr16:16q13		 likely benign|conflicting interpretations of pathogenicity
NM_001126108.2(SLC12A3):c.723C>T (p.Thr241=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001274419]|not provided [RCV000972903] Chr16:56870217 [GRCh38]
Chr16:56904129 [GRCh37]
Chr16:16q13		 benign|uncertain significance
NM_001126108.2(SLC12A3):c.1146G>A (p.Thr382=) single nucleotide variant not provided [RCV000909454] Chr16:56878127 [GRCh38]
Chr16:56912039 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.474G>A (p.Arg158=) single nucleotide variant not provided [RCV000930054] Chr16:56868341 [GRCh38]
Chr16:56902253 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1797C>T (p.Leu599=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001274426]|not provided [RCV000921150] Chr16:56884176 [GRCh38]
Chr16:56918088 [GRCh37]
Chr16:16q13		 likely benign|uncertain significance
NM_001126108.2(SLC12A3):c.51C>T (p.Ser17=) single nucleotide variant not provided [RCV000978596] Chr16:56865286 [GRCh38]
Chr16:56899198 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1568-4G>A single nucleotide variant Inborn genetic diseases [RCV002540930]|not provided [RCV000917750] Chr16:56882392 [GRCh38]
Chr16:56916304 [GRCh37]
Chr16:16q13		 likely benign|uncertain significance
NM_001126108.2(SLC12A3):c.2076C>T (p.Ile692=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001827089]|not provided [RCV000978848] Chr16:56886991 [GRCh38]
Chr16:56920903 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.348G>A (p.Gly116=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001836022]|not provided [RCV000930126] Chr16:56867135 [GRCh38]
Chr16:56901047 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.519C>A (p.Ile173=) single nucleotide variant not provided [RCV000930798] Chr16:56869742 [GRCh38]
Chr16:56903654 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.502_505+2del deletion not provided [RCV001067099] Chr16:56868369..56868374 [GRCh38]
Chr16:56902281..56902286 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.308T>C (p.Leu103Pro) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001121942]|not provided [RCV001445380] Chr16:56867095 [GRCh38]
Chr16:56901007 [GRCh37]
Chr16:16q13		 likely benign|uncertain significance
NM_001126108.2(SLC12A3):c.2037+1G>A single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001833931]|not provided [RCV001222819] Chr16:56886476 [GRCh38]
Chr16:56920388 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1412C>T (p.Ala471Val) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001120338] Chr16:56879618 [GRCh38]
Chr16:56913530 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1442A>G (p.Gln481Arg) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001120339] Chr16:56879648 [GRCh38]
Chr16:56913560 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1513C>A (p.Pro505Thr) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001120340] Chr16:56880199 [GRCh38]
Chr16:56914111 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2963_2966dup (p.Tyr990fs) duplication not provided [RCV001216899] Chr16:56913298..56913299 [GRCh38]
Chr16:56947210..56947211 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
NM_001126108.2(SLC12A3):c.1489A>T (p.Lys497Ter) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001276375]|not provided [RCV001056876] Chr16:56880175 [GRCh38]
Chr16:56914087 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2603A>G (p.Gln868Arg) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001116972] Chr16:56894612 [GRCh38]
Chr16:56928524 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1196_1202dup (p.Ala401_Ser402insTer) duplication Familial hypokalemia-hypomagnesemia [RCV001828726]|not provided [RCV001217403] Chr16:56879084..56879085 [GRCh38]
Chr16:56912996..56912997 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2857-6G>A single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001120241]|not provided [RCV000957707]|not specified [RCV001725204] Chr16:56904389 [GRCh38]
Chr16:56938301 [GRCh37]
Chr16:16q13		 benign|likely benign
NM_001126108.2(SLC12A3):c.626G>A (p.Arg209Gln) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001807374]|Inborn genetic diseases [RCV002549824]|SLC12A3-related condition [RCV003413782]|not provided [RCV000993007] Chr16:56870120 [GRCh38]
Chr16:56904032 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.760G>A (p.Val254Met) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001274376]|not provided [RCV000993008] Chr16:56870644 [GRCh38]
Chr16:56904556 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2364G>A (p.Ala788=) single nucleotide variant not provided [RCV000957962] Chr16:56890352 [GRCh38]
Chr16:56924264 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2083G>A (p.Gly695Arg) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001276415]|not provided [RCV000957435]|not specified [RCV001644866] Chr16:56886998 [GRCh38]
Chr16:56920910 [GRCh37]
Chr16:16q13		 benign|likely benign
NM_001126108.2(SLC12A3):c.2286-26C>T single nucleotide variant not provided [RCV001597395] Chr16:56890248 [GRCh38]
Chr16:56924160 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.741+63C>A single nucleotide variant not provided [RCV001551155] Chr16:56870298 [GRCh38]
Chr16:56904210 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.965-79G>C single nucleotide variant not provided [RCV001732435] Chr16:56872577 [GRCh38]
Chr16:56906489 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1444-154G>C single nucleotide variant not provided [RCV001558465] Chr16:56879976 [GRCh38]
Chr16:56913888 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2720+255G>A single nucleotide variant not provided [RCV001558127] Chr16:56899871 [GRCh38]
Chr16:56933783 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1706C>A (p.Ala569Glu) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV000989609] Chr16:56884085 [GRCh38]
Chr16:56917997 [GRCh37]
Chr16:16q13		 uncertain significance
GRCh37/hg19 16q11.2-21(chr16:46503573-62203182)x3 copy number gain not provided [RCV002472562] Chr16:46503573..62203182 [GRCh37]
Chr16:16q11.2-21		 pathogenic
NM_001126108.2(SLC12A3):c.2924+221C>T single nucleotide variant not provided [RCV001593951] Chr16:56904683 [GRCh38]
Chr16:56938595 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2522-261G>A single nucleotide variant not provided [RCV001669462] Chr16:56894270 [GRCh38]
Chr16:56928182 [GRCh37]
Chr16:16q13		 benign
NC_000016.9:g.(?_56899118)_56906295del deletion Familial hypokalemia-hypomagnesemia [RCV002469973] Chr16:56899118..56906295 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.2521+475G>C single nucleotide variant not provided [RCV001676311] Chr16:56893529 [GRCh38]
Chr16:56927441 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.547_548dup (p.Ile184fs) duplication Familial hypokalemia-hypomagnesemia [RCV001827172]|not provided [RCV001008853] Chr16:56869768..56869769 [GRCh38]
Chr16:56903680..56903681 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
NM_001126108.2(SLC12A3):c.1096-32T>C single nucleotide variant not provided [RCV001639017] Chr16:56878045 [GRCh38]
Chr16:56911957 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.2924+148C>T single nucleotide variant not provided [RCV001655512] Chr16:56904610 [GRCh38]
Chr16:56938522 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.2521+330C>T single nucleotide variant not provided [RCV001659327] Chr16:56893384 [GRCh38]
Chr16:56927296 [GRCh37]
Chr16:16q13		 benign
NC_000016.10:g.56865095G>C single nucleotide variant not provided [RCV001654882] Chr16:56865095 [GRCh38]
Chr16:56899007 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.1096-28T>C single nucleotide variant not provided [RCV001638782] Chr16:56878049 [GRCh38]
Chr16:56911961 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.1670-503C>G single nucleotide variant not provided [RCV001527919] Chr16:56883546 [GRCh38]
Chr16:56917458 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.2179-153_2179-152dup duplication not provided [RCV001608680] Chr16:56887771..56887772 [GRCh38]
Chr16:56921683..56921684 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.2178+36G>A single nucleotide variant not provided [RCV001654972] Chr16:56887129 [GRCh38]
Chr16:56921041 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.1396C>G (p.Leu466Val) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002496045]|not provided [RCV001723310] Chr16:56879602 [GRCh38]
Chr16:56913514 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1181-82C>T single nucleotide variant not provided [RCV001619122] Chr16:56878991 [GRCh38]
Chr16:56912903 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.2633+121C>A single nucleotide variant not provided [RCV001656002] Chr16:56894763 [GRCh38]
Chr16:56928675 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.2634-33G>A single nucleotide variant not provided [RCV001620346] Chr16:56899497 [GRCh38]
Chr16:56933409 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.1261T>G (p.Cys421Gly) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002502009]|not provided [RCV001663810] Chr16:56879153 [GRCh38]
Chr16:56913065 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.1568-333del deletion not provided [RCV001694474] Chr16:56882049 [GRCh38]
Chr16:56915961 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.2857-178T>A single nucleotide variant not provided [RCV001677890] Chr16:56904217 [GRCh38]
Chr16:56938129 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.2037+181G>A single nucleotide variant not provided [RCV001673946] Chr16:56886656 [GRCh38]
Chr16:56920568 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.1096-42T>C single nucleotide variant not provided [RCV001545935] Chr16:56878035 [GRCh38]
Chr16:56911947 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2856+148T>C single nucleotide variant not provided [RCV001686994] Chr16:56902656 [GRCh38]
Chr16:56936568 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.2856+269_2856+270del deletion not provided [RCV001636191] Chr16:56902777..56902778 [GRCh38]
Chr16:56936689..56936690 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.1826-104G>A single nucleotide variant not provided [RCV001684440] Chr16:56885161 [GRCh38]
Chr16:56919073 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.1926-130G>A single nucleotide variant not provided [RCV001636104] Chr16:56886234 [GRCh38]
Chr16:56920146 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.55C>T (p.Arg19Cys) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001004939] Chr16:56865290 [GRCh38]
Chr16:56899202 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.40A>T (p.Thr14Ser) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001119952]|not provided [RCV003736985] Chr16:56865275 [GRCh38]
Chr16:56899187 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1817A>G (p.Lys606Arg) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001118613] Chr16:56884196 [GRCh38]
Chr16:56918108 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2179-133_2179-123del deletion not provided [RCV001564678] Chr16:56887791..56887801 [GRCh38]
Chr16:56921703..56921713 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1567+393A>G single nucleotide variant not provided [RCV001694293] Chr16:56880646 [GRCh38]
Chr16:56914558 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.282+124G>A single nucleotide variant not provided [RCV001567541] Chr16:56865641 [GRCh38]
Chr16:56899553 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1881C>T (p.Tyr627=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001120154] Chr16:56885320 [GRCh38]
Chr16:56919232 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2930T>C (p.Leu977Ser) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001120242]|not provided [RCV002556573] Chr16:56913269 [GRCh38]
Chr16:56947181 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1567+290G>A single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001832799]|not provided [RCV001584874] Chr16:56880543 [GRCh38]
Chr16:56914455 [GRCh37]
Chr16:16q13		 benign|likely benign
NM_001126108.2(SLC12A3):c.2029G>A (p.Val677Met) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001827438]|not provided [RCV001067249] Chr16:56886467 [GRCh38]
Chr16:56920379 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2141C>T (p.Ala714Val) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001120450]|Inborn genetic diseases [RCV002556584]|not provided [RCV002558194] Chr16:56887056 [GRCh38]
Chr16:56920968 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2972T>C (p.Met991Thr) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001120548] Chr16:56913311 [GRCh38]
Chr16:56947223 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2633+151A>C single nucleotide variant not provided [RCV001652834] Chr16:56894793 [GRCh38]
Chr16:56928705 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.*2320T>A single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001120743] Chr16:56915725 [GRCh38]
Chr16:56949637 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.*2329T>C single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001120744] Chr16:56915734 [GRCh38]
Chr16:56949646 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.*2340G>T single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001120745] Chr16:56915745 [GRCh38]
Chr16:56949657 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2720+207C>T single nucleotide variant not provided [RCV001671006] Chr16:56899823 [GRCh38]
Chr16:56933735 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.2179-126_2179-125insA insertion not provided [RCV001684170] Chr16:56887799..56887800 [GRCh38]
Chr16:56921711..56921712 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.1567+190C>T single nucleotide variant not provided [RCV001652787] Chr16:56880443 [GRCh38]
Chr16:56914355 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.2857-63G>A single nucleotide variant not provided [RCV001612158] Chr16:56904332 [GRCh38]
Chr16:56938244 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.2857-291A>G single nucleotide variant not provided [RCV001669477] Chr16:56904104 [GRCh38]
Chr16:56938016 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.2419+150G>A single nucleotide variant not provided [RCV001616789] Chr16:56892283 [GRCh38]
Chr16:56926195 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.2856+143A>G single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001543031]|not provided [RCV001615262] Chr16:56902651 [GRCh38]
Chr16:56936563 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.1444-167G>A single nucleotide variant not provided [RCV001672213] Chr16:56879963 [GRCh38]
Chr16:56913875 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.1444-17G>A single nucleotide variant not provided [RCV001695198]|not specified [RCV001703055] Chr16:56880113 [GRCh38]
Chr16:56914025 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.2522-166C>T single nucleotide variant not provided [RCV001710495] Chr16:56894365 [GRCh38]
Chr16:56928277 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.852+224G>A single nucleotide variant not provided [RCV001670377] Chr16:56870960 [GRCh38]
Chr16:56904872 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.2856+259TCC[7] microsatellite not provided [RCV001667523] Chr16:56902767..56902769 [GRCh38]
Chr16:56936679..56936681 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.2178+74G>A single nucleotide variant not provided [RCV001565684] Chr16:56887167 [GRCh38]
Chr16:56921079 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.853-257C>T single nucleotide variant not provided [RCV001694719] Chr16:56872094 [GRCh38]
Chr16:56906006 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.2178+35C>T single nucleotide variant not provided [RCV001708984] Chr16:56887128 [GRCh38]
Chr16:56921040 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.2522-95A>G single nucleotide variant not provided [RCV001590058] Chr16:56894436 [GRCh38]
Chr16:56928348 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2925-270G>C single nucleotide variant not provided [RCV001665590] Chr16:56912994 [GRCh38]
Chr16:56946906 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.741+1G>A single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001828849]|not provided [RCV001231978] Chr16:56870236 [GRCh38]
Chr16:56904148 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
NM_001126108.2(SLC12A3):c.2615T>C (p.Met872Thr) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001116973]|not provided [RCV002558156] Chr16:56894624 [GRCh38]
Chr16:56928536 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.964+1G>T single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002245892]|not provided [RCV001233053] Chr16:56872463 [GRCh38]
Chr16:56906375 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.539_543del (p.Thr180fs) deletion Familial hypokalemia-hypomagnesemia [RCV001833890]|not provided [RCV001217431] Chr16:56869762..56869766 [GRCh38]
Chr16:56903674..56903678 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.482G>A (p.Trp161Ter) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001807392]|not provided [RCV001208463] Chr16:56868349 [GRCh38]
Chr16:56902261 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2633+1G>A single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001833800]|not provided [RCV001204837] Chr16:56894643 [GRCh38]
Chr16:56928555 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.791delinsGCGTGGTCTCGGTCATTGG (p.Ala264delinsGlyValValSerValIleGly) indel Familial hypokalemia-hypomagnesemia [RCV003324350] Chr16:56870675 [GRCh38]
Chr16:56904587 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.644T>C (p.Leu215Pro) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001828656]|not provided [RCV001206570] Chr16:56870138 [GRCh38]
Chr16:56904050 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1899G>C (p.Glu633Asp) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001120155]|not provided [RCV001856577] Chr16:56885338 [GRCh38]
Chr16:56919250 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2801G>A (p.Arg934Gln) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001120238] Chr16:56902453 [GRCh38]
Chr16:56936365 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2803C>T (p.Arg935Trp) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001120239]|Inborn genetic diseases [RCV002556572]|not provided [RCV002556571] Chr16:56902455 [GRCh38]
Chr16:56936367 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.*2343T>C single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001120746] Chr16:56915748 [GRCh38]
Chr16:56949660 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1075A>G (p.Asn359Asp) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001118516]|not provided [RCV001776118] Chr16:56872766 [GRCh38]
Chr16:56906678 [GRCh37]
Chr16:16q13		 conflicting interpretations of pathogenicity|uncertain significance
NM_001126108.2(SLC12A3):c.*733A>G single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001118696] Chr16:56914138 [GRCh38]
Chr16:56948050 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1726A>G (p.Ile576Val) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001118611] Chr16:56884105 [GRCh38]
Chr16:56918017 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2038-3C>G single nucleotide variant not provided [RCV002001513] Chr16:56886950 [GRCh38]
Chr16:56920862 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1314C>G (p.Tyr438Ter) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001328171]|not provided [RCV001035507] Chr16:56879206 [GRCh38]
Chr16:56913118 [GRCh37]
Chr16:16q13		 pathogenic
NC_000016.10:g.(?_56913254)_(56913415_?)del deletion not provided [RCV001031861] Chr16:56947166..56947327 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2510_2511del (p.Leu836_Phe837insTer) deletion Familial hypokalemia-hypomagnesemia [RCV001833882]|not provided [RCV001216077] Chr16:56893042..56893043 [GRCh38]
Chr16:56926954..56926955 [GRCh37]
Chr16:16q13		 pathogenic
NM_000339.2(SLC12A3):c.-1471_894del deletion not provided [RCV001216229] Chr16:56863765..56872392 [GRCh38]
Chr16:56897677..56906304 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1096-2A>G single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001833973]|not provided [RCV001228340] Chr16:56878075 [GRCh38]
Chr16:56911987 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.2907del (p.Asp969fs) deletion not provided [RCV001070285] Chr16:56904445 [GRCh38]
Chr16:56938357 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.20_21del (p.Thr7fs) deletion Familial hypokalemia-hypomagnesemia [RCV001328167]|Familial hypokalemia-hypomagnesemia [RCV002249628]|not provided [RCV001008775] Chr16:56865254..56865255 [GRCh38]
Chr16:56899166..56899167 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
NM_001126108.2(SLC12A3):c.853-12C>T single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001118511]|not provided [RCV002556519] Chr16:56872339 [GRCh38]
Chr16:56906251 [GRCh37]
Chr16:16q13		 likely benign|uncertain significance
NM_001126108.2(SLC12A3):c.1050G>A (p.Ser350=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001118515] Chr16:56872741 [GRCh38]
Chr16:56906653 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1709C>T (p.Ala570Val) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001118610]|Inborn genetic diseases [RCV002556523]|SLC12A3-related condition [RCV003918703]|not provided [RCV002556524]|not specified [RCV003387966] Chr16:56884088 [GRCh38]
Chr16:56918000 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.*895G>A single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001118697] Chr16:56914300 [GRCh38]
Chr16:56948212 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.430-13C>T single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001115366]|not provided [RCV003574830] Chr16:56868284 [GRCh38]
Chr16:56902196 [GRCh37]
Chr16:16q13		 likely benign|uncertain significance
NM_001126108.2(SLC12A3):c.1545C>T (p.Ile515=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001115449]|not provided [RCV001483463] Chr16:56880231 [GRCh38]
Chr16:56914143 [GRCh37]
Chr16:16q13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001126108.2(SLC12A3):c.*317T>C single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001115638] Chr16:56913722 [GRCh38]
Chr16:56947634 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.*1920A>G single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001117157] Chr16:56915325 [GRCh38]
Chr16:56949237 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.35dup (p.Asp12fs) duplication Familial hypokalemia-hypomagnesemia [RCV001251491]|not provided [RCV001383758] Chr16:56865269..56865270 [GRCh38]
Chr16:56899181..56899182 [GRCh37]
Chr16:16q13		 pathogenic|uncertain significance
NM_001126108.2(SLC12A3):c.430-3C>A single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001253423] Chr16:56868294 [GRCh38]
Chr16:56902206 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.852+1G>A single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001830070]|Inborn genetic diseases [RCV001267119]|not provided [RCV001880133] Chr16:56870737 [GRCh38]
Chr16:56904649 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
NM_001126108.2(SLC12A3):c.1181G>A (p.Gly394Asp) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002286834]|Inborn genetic diseases [RCV002545034]|not provided [RCV001310329] Chr16:56879073 [GRCh38]
Chr16:56912985 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001126108.2(SLC12A3):c.2025C>G (p.Gly675=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001277881] Chr16:56886463 [GRCh38]
Chr16:56920375 [GRCh37]
Chr16:16q13		 uncertain significance
NC_000016.9:g.(?_56900962)_(56904668_?)dup duplication not provided [RCV001908108] Chr16:56900962..56904668 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1247G>C (p.Cys416Ser) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001280858]|not specified [RCV003235535] Chr16:56879139 [GRCh38]
Chr16:56913051 [GRCh37]
Chr16:16q13		 likely pathogenic|uncertain significance
NM_001126108.2(SLC12A3):c.1180G>A (p.Gly394Ser) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001280859] Chr16:56878161 [GRCh38]
Chr16:56912073 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.2817G>A (p.Trp939Ter) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001807396]|not provided [RCV001288431] Chr16:56902469 [GRCh38]
Chr16:56936381 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1925+1G>A single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001329193]|not provided [RCV001863199] Chr16:56885365 [GRCh38]
Chr16:56919277 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
NM_001126108.2(SLC12A3):c.2207A>T (p.Asn736Ile) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001328168] Chr16:56887953 [GRCh38]
Chr16:56921865 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.427A>G (p.Met143Val) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001328103] Chr16:56867214 [GRCh38]
Chr16:56901126 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1756_1776dup (p.Trp586_Ala592dup) duplication not provided [RCV001663811] Chr16:56884132..56884133 [GRCh38]
Chr16:56918044..56918045 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1636A>G (p.Ser546Gly) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001328166]|not provided [RCV001880185] Chr16:56882464 [GRCh38]
Chr16:56916376 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
NM_001126108.2(SLC12A3):c.2911G>A (p.Ala971Thr) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001804220] Chr16:56904449 [GRCh38]
Chr16:56938361 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.601+9T>C single nucleotide variant not provided [RCV001414280] Chr16:56869833 [GRCh38]
Chr16:56903745 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.3015C>T (p.Val1005=) single nucleotide variant not provided [RCV001433006] Chr16:56913354 [GRCh38]
Chr16:56947266 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.602-1G>A single nucleotide variant not provided [RCV001288432] Chr16:56870095 [GRCh38]
Chr16:56904007 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.2286-10C>A single nucleotide variant not provided [RCV001415481] Chr16:56890264 [GRCh38]
Chr16:56924176 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1367del (p.Leu456fs) deletion Familial hypokalemia-hypomagnesemia [RCV001281277] Chr16:56879573 [GRCh38]
Chr16:56913485 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2186G>T (p.Gly729Val) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001807395]|not provided [RCV001288429] Chr16:56887932 [GRCh38]
Chr16:56921844 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
NM_001126108.2(SLC12A3):c.2253G>C (p.Pro751=) single nucleotide variant not provided [RCV001396796] Chr16:56887999 [GRCh38]
Chr16:56921911 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1962C>T (p.Phe654=) single nucleotide variant not provided [RCV001395189] Chr16:56886400 [GRCh38]
Chr16:56920312 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2475G>A (p.Glu825=) single nucleotide variant not provided [RCV001392339] Chr16:56893008 [GRCh38]
Chr16:56926920 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1619del (p.Tyr540fs) deletion not provided [RCV002646001] Chr16:56882447 [GRCh38]
Chr16:56916359 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.614del (p.Phe205fs) deletion Familial hypokalemia-hypomagnesemia [RCV001336804] Chr16:56870107 [GRCh38]
Chr16:56904019 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2964G>T (p.Ser988=) single nucleotide variant not provided [RCV001415035] Chr16:56913303 [GRCh38]
Chr16:56947215 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1368G>A (p.Leu456=) single nucleotide variant SLC12A3-related condition [RCV003938730]|not provided [RCV001422638] Chr16:56879574 [GRCh38]
Chr16:56913486 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2840C>T (p.Thr947Met) single nucleotide variant not provided [RCV001392216] Chr16:56902492 [GRCh38]
Chr16:56936404 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1395C>A (p.Thr465=) single nucleotide variant not provided [RCV001392066] Chr16:56879601 [GRCh38]
Chr16:56913513 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1092C>T (p.Leu364=) single nucleotide variant not provided [RCV001414630] Chr16:56872783 [GRCh38]
Chr16:56906695 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.657C>T (p.Ile219=) single nucleotide variant not provided [RCV001433764] Chr16:56870151 [GRCh38]
Chr16:56904063 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.282+10G>T single nucleotide variant not provided [RCV001392469] Chr16:56865527 [GRCh38]
Chr16:56899439 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2798T>A (p.Met933Lys) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001277884] Chr16:56902450 [GRCh38]
Chr16:56936362 [GRCh37]
Chr16:16q13		 uncertain significance
NM_000339.2:c.(2951+1_2952-1)_(*1_?)del deletion Familial hypokalemia-hypomagnesemia [RCV001328172]   pathogenic
NM_001126108.2(SLC12A3):c.1486G>T (p.Gly496Cys) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001328224]|not provided [RCV001751537] Chr16:56880172 [GRCh38]
Chr16:56914084 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2276del (p.Gly759fs) deletion not provided [RCV003868257] Chr16:56888021 [GRCh38]
Chr16:56921933 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1875C>T (p.Leu625=) single nucleotide variant not provided [RCV001396323] Chr16:56885314 [GRCh38]
Chr16:56919226 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1911C>T (p.His637=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001277880]|not provided [RCV001492121] Chr16:56885350 [GRCh38]
Chr16:56919262 [GRCh37]
Chr16:16q13		 likely benign|uncertain significance
NM_001126108.2(SLC12A3):c.2521+9C>A single nucleotide variant not provided [RCV001396395] Chr16:56893063 [GRCh38]
Chr16:56926975 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1378G>A (p.Gly460Ser) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001328222] Chr16:56879584 [GRCh38]
Chr16:56913496 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2592C>T (p.Phe864=) single nucleotide variant not provided [RCV001413599] Chr16:56894601 [GRCh38]
Chr16:56928513 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2751C>T (p.Pro917=) single nucleotide variant not provided [RCV001395200] Chr16:56902403 [GRCh38]
Chr16:56936315 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.283-9G>T single nucleotide variant not provided [RCV001396374] Chr16:56867061 [GRCh38]
Chr16:56900973 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.601+8A>G single nucleotide variant not provided [RCV001413293] Chr16:56869832 [GRCh38]
Chr16:56903744 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.533C>T (p.Ser178Leu) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001329194]|not provided [RCV001388993] Chr16:56869756 [GRCh38]
Chr16:56903668 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
NM_001126108.2(SLC12A3):c.1230C>A (p.Thr410=) single nucleotide variant not provided [RCV001472976] Chr16:56879122 [GRCh38]
Chr16:56913034 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2262G>A (p.Val754=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002499915]|not provided [RCV001424378] Chr16:56888008 [GRCh38]
Chr16:56921920 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.474G>T (p.Arg158=) single nucleotide variant not provided [RCV001481487] Chr16:56868341 [GRCh38]
Chr16:56902253 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1518G>T (p.Val506=) single nucleotide variant not provided [RCV001464189] Chr16:56880204 [GRCh38]
Chr16:56914116 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1361C>T (p.Ala454Val) single nucleotide variant Inborn genetic diseases [RCV002561950]|not provided [RCV001469734] Chr16:56879567 [GRCh38]
Chr16:56913479 [GRCh37]
Chr16:16q13		 likely benign|uncertain significance
NM_001126108.2(SLC12A3):c.240G>C (p.Arg80=) single nucleotide variant not provided [RCV001473110] Chr16:56865475 [GRCh38]
Chr16:56899387 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2988C>T (p.Thr996=) single nucleotide variant not provided [RCV001495522] Chr16:56913327 [GRCh38]
Chr16:56947239 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.3003C>T (p.Leu1001=) single nucleotide variant not provided [RCV001499259] Chr16:56913342 [GRCh38]
Chr16:56947254 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.72A>G (p.Thr24=) single nucleotide variant not provided [RCV001485437] Chr16:56865307 [GRCh38]
Chr16:56899219 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.15C>T (p.Pro5=) single nucleotide variant not provided [RCV001469858] Chr16:56865250 [GRCh38]
Chr16:56899162 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1965C>T (p.Arg655=) single nucleotide variant not provided [RCV001475211] Chr16:56886403 [GRCh38]
Chr16:56920315 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2955C>T (p.Cys985=) single nucleotide variant not provided [RCV001454962] Chr16:56913294 [GRCh38]
Chr16:56947206 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2121C>A (p.Ala707=) single nucleotide variant not provided [RCV001404951] Chr16:56887036 [GRCh38]
Chr16:56920948 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.475C>T (p.Leu159=) single nucleotide variant not provided [RCV001487737] Chr16:56868342 [GRCh38]
Chr16:56902254 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1608C>T (p.Phe536=) single nucleotide variant not provided [RCV001490834] Chr16:56882436 [GRCh38]
Chr16:56916348 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2544T>G (p.Tyr848Ter) single nucleotide variant not provided [RCV001389910] Chr16:56894553 [GRCh38]
Chr16:56928465 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1826-5C>T single nucleotide variant not provided [RCV001425083] Chr16:56885260 [GRCh38]
Chr16:56919172 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1719G>A (p.Gly573=) single nucleotide variant not provided [RCV001488154] Chr16:56884098 [GRCh38]
Chr16:56918010 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.267G>A (p.Leu89=) single nucleotide variant not provided [RCV001476223] Chr16:56865502 [GRCh38]
Chr16:56899414 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2523C>T (p.Gly841=) single nucleotide variant not provided [RCV001457920] Chr16:56894532 [GRCh38]
Chr16:56928444 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1515C>T (p.Pro505=) single nucleotide variant not provided [RCV001484907] Chr16:56880201 [GRCh38]
Chr16:56914113 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2655G>A (p.Lys885=) single nucleotide variant not provided [RCV001451894] Chr16:56899551 [GRCh38]
Chr16:56933463 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.747T>C (p.Tyr249=) single nucleotide variant not provided [RCV001425760] Chr16:56870631 [GRCh38]
Chr16:56904543 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2622G>A (p.Gln874=) single nucleotide variant not provided [RCV001465212] Chr16:56894631 [GRCh38]
Chr16:56928543 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1122G>A (p.Gly374=) single nucleotide variant not provided [RCV001474175] Chr16:56878103 [GRCh38]
Chr16:56912015 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.669C>T (p.Phe223=) single nucleotide variant not provided [RCV001492727] Chr16:56870163 [GRCh38]
Chr16:56904075 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1629C>T (p.Ile543=) single nucleotide variant not provided [RCV001496843] Chr16:56882457 [GRCh38]
Chr16:56916369 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2091C>G (p.Thr697=) single nucleotide variant not provided [RCV001455357] Chr16:56887006 [GRCh38]
Chr16:56920918 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2949G>C (p.Gly983=) single nucleotide variant not provided [RCV001471636] Chr16:56913288 [GRCh38]
Chr16:56947200 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2285+10G>C single nucleotide variant not provided [RCV001491544] Chr16:56888041 [GRCh38]
Chr16:56921953 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2038-6C>T single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002495619]|not provided [RCV001442289] Chr16:56886947 [GRCh38]
Chr16:56920859 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1011T>C (p.Asp337=) single nucleotide variant not provided [RCV001442291] Chr16:56872702 [GRCh38]
Chr16:56906614 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2550T>C (p.Leu850=) single nucleotide variant not provided [RCV001462295] Chr16:56894559 [GRCh38]
Chr16:56928471 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2369-9C>G single nucleotide variant not provided [RCV001474359] Chr16:56892074 [GRCh38]
Chr16:56925986 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1332C>T (p.Tyr444=) single nucleotide variant not provided [RCV001460106] Chr16:56879224 [GRCh38]
Chr16:56913136 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1462C>T (p.Leu488=) single nucleotide variant not provided [RCV001503375] Chr16:56880148 [GRCh38]
Chr16:56914060 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2781G>A (p.Glu927=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002501729]|not provided [RCV001503480] Chr16:56902433 [GRCh38]
Chr16:56936345 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2019C>T (p.Ile673=) single nucleotide variant not provided [RCV001466009] Chr16:56886457 [GRCh38]
Chr16:56920369 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.900T>C (p.Tyr300=) single nucleotide variant not provided [RCV001468251] Chr16:56872398 [GRCh38]
Chr16:56906310 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1845G>A (p.Ser615=) single nucleotide variant not provided [RCV001472057] Chr16:56885284 [GRCh38]
Chr16:56919196 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2037+10C>T single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002501731]|not provided [RCV001504264] Chr16:56886485 [GRCh38]
Chr16:56920397 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.539C>T (p.Thr180Met) single nucleotide variant not provided [RCV001469740] Chr16:56869762 [GRCh38]
Chr16:56903674 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.3012A>G (p.Pro1004=) single nucleotide variant not provided [RCV001475811] Chr16:56913351 [GRCh38]
Chr16:56947263 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.433C>A (p.Arg145Ser) single nucleotide variant not provided [RCV001376833] Chr16:56868300 [GRCh38]
Chr16:56902212 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.2748A>G (p.Ala916=) single nucleotide variant not provided [RCV001403726] Chr16:56902400 [GRCh38]
Chr16:56936312 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.996C>T (p.Asp332=) single nucleotide variant not provided [RCV001480691] Chr16:56872687 [GRCh38]
Chr16:56906599 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.738C>G (p.Leu246=) single nucleotide variant not provided [RCV001453608] Chr16:56870232 [GRCh38]
Chr16:56904144 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.672T>C (p.Ala224=) single nucleotide variant not provided [RCV001501567] Chr16:56870166 [GRCh38]
Chr16:56904078 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2434C>T (p.Leu812=) single nucleotide variant SLC12A3-related condition [RCV003900444]|not provided [RCV001419028] Chr16:56892967 [GRCh38]
Chr16:56926879 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.390C>G (p.Pro130=) single nucleotide variant not provided [RCV001393453] Chr16:56867177 [GRCh38]
Chr16:56901089 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.27G>A (p.Thr9=) single nucleotide variant not provided [RCV001491962] Chr16:56865262 [GRCh38]
Chr16:56899174 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2919C>T (p.Ile973=) single nucleotide variant not provided [RCV001427114] Chr16:56904457 [GRCh38]
Chr16:56938369 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1568-5C>T single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002495694]|not provided [RCV001468932] Chr16:56882391 [GRCh38]
Chr16:56916303 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1845G>T (p.Ser615=) single nucleotide variant not provided [RCV001506447] Chr16:56885284 [GRCh38]
Chr16:56919196 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1788G>A (p.Val596=) single nucleotide variant not provided [RCV001489849] Chr16:56884167 [GRCh38]
Chr16:56918079 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1998C>T (p.Thr666=) single nucleotide variant not provided [RCV001437988] Chr16:56886436 [GRCh38]
Chr16:56920348 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2659C>A (p.Arg887=) single nucleotide variant not provided [RCV001477509] Chr16:56899555 [GRCh38]
Chr16:56933467 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2373C>T (p.Asn791=) single nucleotide variant not provided [RCV001489961] Chr16:56892087 [GRCh38]
Chr16:56925999 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.885C>T (p.Val295=) single nucleotide variant not provided [RCV001474866] Chr16:56872383 [GRCh38]
Chr16:56906295 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2720+8C>T single nucleotide variant not provided [RCV001493658]|not specified [RCV003399257] Chr16:56899624 [GRCh38]
Chr16:56933536 [GRCh37]
Chr16:16q13		 likely benign|uncertain significance
NM_001126108.2(SLC12A3):c.255A>G (p.Thr85=) single nucleotide variant not provided [RCV001502108] Chr16:56865490 [GRCh38]
Chr16:56899402 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2856+2T>A single nucleotide variant not provided [RCV001378998] Chr16:56902510 [GRCh38]
Chr16:56936422 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
NM_001126108.2(SLC12A3):c.2124C>T (p.Phe708=) single nucleotide variant not provided [RCV001403024] Chr16:56887039 [GRCh38]
Chr16:56920951 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2508C>G (p.Leu836=) single nucleotide variant not provided [RCV001443240] Chr16:56893041 [GRCh38]
Chr16:56926953 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2664G>T (p.Leu888=) single nucleotide variant not provided [RCV001448552] Chr16:56899560 [GRCh38]
Chr16:56933472 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2610C>T (p.Asn870=) single nucleotide variant not provided [RCV001446017] Chr16:56894619 [GRCh38]
Chr16:56928531 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.506-8C>T single nucleotide variant not provided [RCV001446284] Chr16:56869721 [GRCh38]
Chr16:56903633 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2487G>A (p.Lys829=) single nucleotide variant not provided [RCV001446399] Chr16:56893020 [GRCh38]
Chr16:56926932 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2907C>T (p.Asp969=) single nucleotide variant not provided [RCV001448835] Chr16:56904445 [GRCh38]
Chr16:56938357 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2559G>A (p.Lys853=) single nucleotide variant not provided [RCV001446225] Chr16:56894568 [GRCh38]
Chr16:56928480 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1669+10C>A single nucleotide variant not provided [RCV001409715] Chr16:56882507 [GRCh38]
Chr16:56916419 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2420-4G>C single nucleotide variant not provided [RCV001407464] Chr16:56892949 [GRCh38]
Chr16:56926861 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2679C>T (p.Val893=) single nucleotide variant not provided [RCV001417148] Chr16:56899575 [GRCh38]
Chr16:56933487 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2148C>T (p.Asp716=) single nucleotide variant not provided [RCV001438734] Chr16:56887063 [GRCh38]
Chr16:56920975 [GRCh37]
Chr16:16q13		 likely benign
NC_000016.9:g.(?_56921827)_(56921953_?)del deletion not provided [RCV001380707] Chr16:56921827..56921953 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1335+8del deletion not provided [RCV001446825] Chr16:56879234 [GRCh38]
Chr16:56913146 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2178+1G>T single nucleotide variant not provided [RCV001379416] Chr16:56887094 [GRCh38]
Chr16:56921006 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.911C>T (p.Thr304Met) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001826158]|not provided [RCV001381398] Chr16:56872409 [GRCh38]
Chr16:56906321 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1175C>T (p.Thr392Ile) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002243171]|not provided [RCV001381399] Chr16:56878156 [GRCh38]
Chr16:56912068 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
NM_001126108.2(SLC12A3):c.3042C>T (p.Asn1014=) single nucleotide variant not provided [RCV001407412] Chr16:56913381 [GRCh38]
Chr16:56947293 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2841G>A (p.Thr947=) single nucleotide variant not provided [RCV001446657] Chr16:56902493 [GRCh38]
Chr16:56936405 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.840G>A (p.Glu280=) single nucleotide variant not provided [RCV001405352] Chr16:56870724 [GRCh38]
Chr16:56904636 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.804C>T (p.Val268=) single nucleotide variant not provided [RCV001439979] Chr16:56870688 [GRCh38]
Chr16:56904600 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2285+9G>T single nucleotide variant not provided [RCV001444248] Chr16:56888040 [GRCh38]
Chr16:56921952 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2857-6G>T single nucleotide variant not provided [RCV001415965] Chr16:56904389 [GRCh38]
Chr16:56938301 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2376C>T (p.Pro792=) single nucleotide variant not provided [RCV001402472] Chr16:56892090 [GRCh38]
Chr16:56926002 [GRCh37]
Chr16:16q13		 likely benign
NC_000016.9:g.(?_56925985)_(56936430_?)del deletion not provided [RCV001388548] Chr16:56925985..56936430 [GRCh37]
Chr16:16q13		 pathogenic
NC_000016.9:g.(?_56906253)_(56912083_?)del deletion not provided [RCV001388549] Chr16:56906253..56912083 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.961C>T (p.Arg321Trp) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001831367]|SLC12A3-related condition [RCV003918895]|not provided [RCV001379116] Chr16:56872459 [GRCh38]
Chr16:56906371 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
NM_001126108.2(SLC12A3):c.1647C>T (p.His549=) single nucleotide variant not provided [RCV001444615] Chr16:56882475 [GRCh38]
Chr16:56916387 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1914C>G (p.Ile638Met) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001533192] Chr16:56885353 [GRCh38]
Chr16:56919265 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1925+72C>G single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001543011]|not provided [RCV001655835] Chr16:56885436 [GRCh38]
Chr16:56919348 [GRCh37]
Chr16:16q13		 benign|likely benign
NM_001126108.2(SLC12A3):c.2420-37T>C single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001543013]|not provided [RCV001655836] Chr16:56892916 [GRCh38]
Chr16:56926828 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.2634-222A>G single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001543014]|not provided [RCV001685463] Chr16:56899308 [GRCh38]
Chr16:56933220 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.55del (p.Arg19fs) deletion not provided [RCV001390364] Chr16:56865290 [GRCh38]
Chr16:56899202 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2363C>T (p.Ala788Val) single nucleotide variant not provided [RCV001401152] Chr16:56890351 [GRCh38]
Chr16:56924263 [GRCh37]
Chr16:16q13		 likely benign|conflicting interpretations of pathogenicity
NM_001126108.2(SLC12A3):c.1458C>T (p.Asp486=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002499857]|not provided [RCV001403411] Chr16:56880144 [GRCh38]
Chr16:56914056 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.569C>A (p.Ser190Ter) single nucleotide variant not provided [RCV001390680] Chr16:56869792 [GRCh38]
Chr16:56903704 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.207C>T (p.His69=) single nucleotide variant not provided [RCV001393395] Chr16:56865442 [GRCh38]
Chr16:56899354 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2331G>A (p.Arg777=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002504678]|not provided [RCV001406168] Chr16:56890319 [GRCh38]
Chr16:56924231 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1164C>T (p.Ala388=) single nucleotide variant SLC12A3-related condition [RCV003930934]|not provided [RCV001442711] Chr16:56878145 [GRCh38]
Chr16:56912057 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.333C>T (p.His111=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002476758]|not provided [RCV001445132] Chr16:56867120 [GRCh38]
Chr16:56901032 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1230C>T (p.Thr410=) single nucleotide variant not provided [RCV001411035] Chr16:56879122 [GRCh38]
Chr16:56913034 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1926-5C>T single nucleotide variant not provided [RCV001408791] Chr16:56886359 [GRCh38]
Chr16:56920271 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2820G>A (p.Lys940=) single nucleotide variant not provided [RCV001445438] Chr16:56902472 [GRCh38]
Chr16:56936384 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.403C>T (p.Arg135Cys) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002499787]|Inborn genetic diseases [RCV002550965]|not provided [RCV001379907] Chr16:56867190 [GRCh38]
Chr16:56901102 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
NM_001126108.2(SLC12A3):c.1096-1G>A single nucleotide variant not provided [RCV001379909] Chr16:56878076 [GRCh38]
Chr16:56911988 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.2038-10C>T single nucleotide variant not provided [RCV001428359] Chr16:56886943 [GRCh38]
Chr16:56920855 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.726G>A (p.Val242=) single nucleotide variant not provided [RCV001440532] Chr16:56870220 [GRCh38]
Chr16:56904132 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.450T>A (p.Ile150=) single nucleotide variant not provided [RCV001427226] Chr16:56868317 [GRCh38]
Chr16:56902229 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.603T>C (p.Gly201=) single nucleotide variant not provided [RCV001445556] Chr16:56870097 [GRCh38]
Chr16:56904009 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1443+9G>A single nucleotide variant not provided [RCV001411393] Chr16:56879658 [GRCh38]
Chr16:56913570 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.334G>T (p.Glu112Ter) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001542489]|not provided [RCV001388991] Chr16:56867121 [GRCh38]
Chr16:56901033 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2504G>A (p.Trp835Ter) single nucleotide variant not provided [RCV001388992] Chr16:56893037 [GRCh38]
Chr16:56926949 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2851_2852insAGGGGTGCACCCTC (p.Val951fs) insertion not provided [RCV001384293] Chr16:56902503..56902504 [GRCh38]
Chr16:56936415..56936416 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1653C>T (p.Ser551=) single nucleotide variant not provided [RCV001419608] Chr16:56882481 [GRCh38]
Chr16:56916393 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2289T>C (p.Asp763=) single nucleotide variant not provided [RCV001439179] Chr16:56890277 [GRCh38]
Chr16:56924189 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2496C>T (p.Asp832=) single nucleotide variant not provided [RCV001402921] Chr16:56893029 [GRCh38]
Chr16:56926941 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2369-9C>A single nucleotide variant not provided [RCV001448192] Chr16:56892074 [GRCh38]
Chr16:56925986 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1485C>T (p.Phe495=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002495628]|not provided [RCV001445833] Chr16:56880171 [GRCh38]
Chr16:56914083 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2532C>T (p.Leu844=) single nucleotide variant not provided [RCV001409190] Chr16:56894541 [GRCh38]
Chr16:56928453 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2857-122G>A single nucleotide variant not provided [RCV001545669] Chr16:56904273 [GRCh38]
Chr16:56938185 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1578C>T (p.Asn526=) single nucleotide variant not provided [RCV001409114] Chr16:56882406 [GRCh38]
Chr16:56916318 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2866C>T (p.Gln956Ter) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002493932]|not provided [RCV001389306] Chr16:56904404 [GRCh38]
Chr16:56938316 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2902C>T (p.Arg968Ter) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001826181]|not provided [RCV001389307] Chr16:56904440 [GRCh38]
Chr16:56938352 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2924+1G>A single nucleotide variant not provided [RCV001389308] Chr16:56904463 [GRCh38]
Chr16:56938375 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2634-243_2634-241dup duplication not provided [RCV001673335] Chr16:56899285..56899286 [GRCh38]
Chr16:56933197..56933198 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.791_792delinsGT (p.Ala264Gly) indel not provided [RCV001468585] Chr16:56870675..56870676 [GRCh38]
Chr16:56904587..56904588 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1707G>A (p.Ala569=) single nucleotide variant not provided [RCV001490203] Chr16:56884086 [GRCh38]
Chr16:56917998 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.885C>A (p.Val295=) single nucleotide variant not provided [RCV001490209] Chr16:56872383 [GRCh38]
Chr16:56906295 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2634-184A>G single nucleotide variant not provided [RCV001710883] Chr16:56899346 [GRCh38]
Chr16:56933258 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.459G>A (p.Val153=) single nucleotide variant not provided [RCV001490407] Chr16:56868326 [GRCh38]
Chr16:56902238 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2595A>C (p.Val865=) single nucleotide variant SLC12A3-related condition [RCV003930999]|not provided [RCV001481864] Chr16:56894604 [GRCh38]
Chr16:56928516 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.522C>T (p.Ile174=) single nucleotide variant not provided [RCV001451368] Chr16:56869745 [GRCh38]
Chr16:56903657 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.659del (p.Gly220fs) deletion Familial hypokalemia-hypomagnesemia [RCV001526394] Chr16:56870152 [GRCh38]
Chr16:56904064 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1669+8A>T single nucleotide variant not provided [RCV001486363] Chr16:56882505 [GRCh38]
Chr16:56916417 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1181-6T>A single nucleotide variant not provided [RCV001502573] Chr16:56879067 [GRCh38]
Chr16:56912979 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.297C>T (p.His99=) single nucleotide variant not provided [RCV001465638] Chr16:56867084 [GRCh38]
Chr16:56900996 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1590C>G (p.Pro530=) single nucleotide variant not provided [RCV001476193] Chr16:56882418 [GRCh38]
Chr16:56916330 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1806T>C (p.Tyr602=) single nucleotide variant not provided [RCV001458004] Chr16:56884185 [GRCh38]
Chr16:56918097 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1568-334_1568-333del deletion not provided [RCV001674150] Chr16:56882049..56882050 [GRCh38]
Chr16:56915961..56915962 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.1908C>T (p.Asp636=) single nucleotide variant not provided [RCV001479746] Chr16:56885347 [GRCh38]
Chr16:56919259 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.450T>C (p.Ile150=) single nucleotide variant SLC12A3-related condition [RCV003965967]|not provided [RCV001479757] Chr16:56868317 [GRCh38]
Chr16:56902229 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.675C>T (p.Phe225=) single nucleotide variant not provided [RCV001476186] Chr16:56870169 [GRCh38]
Chr16:56904081 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1485C>A (p.Phe495Leu) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001535886] Chr16:56880171 [GRCh38]
Chr16:56914083 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.2856+273del deletion not provided [RCV001691343] Chr16:56902780 [GRCh38]
Chr16:56936692 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.1476C>T (p.Ile492=) single nucleotide variant not provided [RCV001476608] Chr16:56880162 [GRCh38]
Chr16:56914074 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2607T>C (p.Ile869=) single nucleotide variant not provided [RCV001455379] Chr16:56894616 [GRCh38]
Chr16:56928528 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1449T>C (p.Leu483=) single nucleotide variant not provided [RCV001483186] Chr16:56880135 [GRCh38]
Chr16:56914047 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.456C>T (p.Gly152=) single nucleotide variant not provided [RCV001486824] Chr16:56868323 [GRCh38]
Chr16:56902235 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2522-230G>T single nucleotide variant not provided [RCV001584742] Chr16:56894301 [GRCh38]
Chr16:56928213 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.283-51C>T single nucleotide variant not provided [RCV001693416] Chr16:56867019 [GRCh38]
Chr16:56900931 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.2521+362A>C single nucleotide variant not provided [RCV001707965] Chr16:56893416 [GRCh38]
Chr16:56927328 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.45G>A (p.Leu15=) single nucleotide variant not provided [RCV001483631] Chr16:56865280 [GRCh38]
Chr16:56899192 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2307T>C (p.Tyr769=) single nucleotide variant not provided [RCV001459682] Chr16:56890295 [GRCh38]
Chr16:56924207 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2420-72C>T single nucleotide variant not provided [RCV001616164] Chr16:56892881 [GRCh38]
Chr16:56926793 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.2625G>A (p.Glu875=) single nucleotide variant not provided [RCV001480783] Chr16:56894634 [GRCh38]
Chr16:56928546 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.102A>G (p.Pro34=) single nucleotide variant not provided [RCV001470866] Chr16:56865337 [GRCh38]
Chr16:56899249 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2934C>T (p.Pro978=) single nucleotide variant not provided [RCV001456078] Chr16:56913273 [GRCh38]
Chr16:56947185 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2521+278C>T single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001827576]|not provided [RCV001674847] Chr16:56893332 [GRCh38]
Chr16:56927244 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.234G>A (p.Glu78=) single nucleotide variant not provided [RCV001504389] Chr16:56865469 [GRCh38]
Chr16:56899381 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.540G>T (p.Thr180=) single nucleotide variant not provided [RCV001456266] Chr16:56869763 [GRCh38]
Chr16:56903675 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2522-163G>C single nucleotide variant not provided [RCV001612104] Chr16:56894368 [GRCh38]
Chr16:56928280 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.429+160A>T single nucleotide variant not provided [RCV001687315] Chr16:56867376 [GRCh38]
Chr16:56901288 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.738C>T (p.Leu246=) single nucleotide variant not provided [RCV001463831] Chr16:56870232 [GRCh38]
Chr16:56904144 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.283-5G>T single nucleotide variant not provided [RCV001456982] Chr16:56867065 [GRCh38]
Chr16:56900977 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1176C>G (p.Thr392=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002495690]|not provided [RCV001467650] Chr16:56878157 [GRCh38]
Chr16:56912069 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.506-289G>A single nucleotide variant not provided [RCV001696724] Chr16:56869440 [GRCh38]
Chr16:56903352 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.2412C>T (p.Ser804=) single nucleotide variant not provided [RCV001478365] Chr16:56892126 [GRCh38]
Chr16:56926038 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1742T>A (p.Met581Lys) single nucleotide variant not provided [RCV001386500] Chr16:56884121 [GRCh38]
Chr16:56918033 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
NM_001126108.2(SLC12A3):c.1805_1806del (p.Tyr602fs) deletion Familial hypokalemia-hypomagnesemia [RCV001831394]|not provided [RCV001386501] Chr16:56884183..56884184 [GRCh38]
Chr16:56918095..56918096 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1930del (p.Gln644fs) deletion Familial hypokalemia-hypomagnesemia [RCV001807397]|not provided [RCV001386502] Chr16:56886364 [GRCh38]
Chr16:56920276 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1371C>T (p.Ile457=) single nucleotide variant not provided [RCV001490236] Chr16:56879577 [GRCh38]
Chr16:56913489 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2419+8G>A single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002501526]|SLC12A3-related condition [RCV003938747]|not provided [RCV001431264] Chr16:56892141 [GRCh38]
Chr16:56926053 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.923dup (p.Ser309fs) duplication not provided [RCV001385209] Chr16:56872415..56872416 [GRCh38]
Chr16:56906327..56906328 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2583C>T (p.Ile861=) single nucleotide variant not provided [RCV001469994] Chr16:56894592 [GRCh38]
Chr16:56928504 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1665G>A (p.Ser555=) single nucleotide variant not provided [RCV001490644] Chr16:56882493 [GRCh38]
Chr16:56916405 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1359C>T (p.Phe453=) single nucleotide variant not provided [RCV001482954] Chr16:56879565 [GRCh38]
Chr16:56913477 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1752C>T (p.Leu584=) single nucleotide variant not provided [RCV001478279] Chr16:56884131 [GRCh38]
Chr16:56918043 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2313G>A (p.Val771=) single nucleotide variant not provided [RCV001428984] Chr16:56890301 [GRCh38]
Chr16:56924213 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1971C>T (p.Ala657=) single nucleotide variant not provided [RCV001431607] Chr16:56886409 [GRCh38]
Chr16:56920321 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1731C>T (p.Ser577=) single nucleotide variant not provided [RCV001470835] Chr16:56884110 [GRCh38]
Chr16:56918022 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1453G>A (p.Glu485Lys) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001836409]|not provided [RCV001453861] Chr16:56880139 [GRCh38]
Chr16:56914051 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.216C>T (p.Asn72=) single nucleotide variant not provided [RCV001483071] Chr16:56865451 [GRCh38]
Chr16:56899363 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.3051C>A (p.Thr1017=) single nucleotide variant not provided [RCV001504870] Chr16:56913390 [GRCh38]
Chr16:56947302 [GRCh37]
Chr16:16q13		 likely benign
NC_000016.9:g.(?_56897677)_56906303del deletion not provided [RCV001388550]   pathogenic
NM_001126108.2(SLC12A3):c.429+8G>A single nucleotide variant not provided [RCV001497629] Chr16:56867224 [GRCh38]
Chr16:56901136 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.27G>T (p.Thr9=) single nucleotide variant not provided [RCV001476220] Chr16:56865262 [GRCh38]
Chr16:56899174 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1181-4T>G single nucleotide variant not provided [RCV001453591] Chr16:56879069 [GRCh38]
Chr16:56912981 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2649G>A (p.Leu883=) single nucleotide variant not provided [RCV001498406] Chr16:56899545 [GRCh38]
Chr16:56933457 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2121C>G (p.Ala707=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002495667]|not provided [RCV001461025] Chr16:56887036 [GRCh38]
Chr16:56920948 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1467C>T (p.Tyr489=) single nucleotide variant not provided [RCV001502641] Chr16:56880153 [GRCh38]
Chr16:56914065 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1335+2T>C single nucleotide variant not provided [RCV001379939] Chr16:56879229 [GRCh38]
Chr16:56913141 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.2368+9A>G single nucleotide variant not provided [RCV001392870] Chr16:56890365 [GRCh38]
Chr16:56924277 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1567G>A (p.Ala523Thr) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002504631]|not provided [RCV001378475] Chr16:56880253 [GRCh38]
Chr16:56914165 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
NM_001126108.2(SLC12A3):c.42T>G (p.Thr14=) single nucleotide variant not provided [RCV001427592] Chr16:56865277 [GRCh38]
Chr16:56899189 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2784C>T (p.Ala928=) single nucleotide variant not provided [RCV001427598] Chr16:56902436 [GRCh38]
Chr16:56936348 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1800G>T (p.Leu600=) single nucleotide variant not provided [RCV001398125] Chr16:56884179 [GRCh38]
Chr16:56918091 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2285+12del deletion not provided [RCV001480621] Chr16:56888039 [GRCh38]
Chr16:56921951 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.711C>T (p.Gly237=) single nucleotide variant not provided [RCV001420079] Chr16:56870205 [GRCh38]
Chr16:56904117 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.43T>C (p.Leu15=) single nucleotide variant not provided [RCV001436636] Chr16:56865278 [GRCh38]
Chr16:56899190 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2369-9C>T single nucleotide variant not provided [RCV001496838] Chr16:56892074 [GRCh38]
Chr16:56925986 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.759C>T (p.Ile253=) single nucleotide variant not provided [RCV001463384] Chr16:56870643 [GRCh38]
Chr16:56904555 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.876C>T (p.Val292=) single nucleotide variant not provided [RCV001456208] Chr16:56872374 [GRCh38]
Chr16:56906286 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2709T>C (p.Pro903=) single nucleotide variant not provided [RCV001503864] Chr16:56899605 [GRCh38]
Chr16:56933517 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.126C>G (p.Pro42=) single nucleotide variant not provided [RCV001459386] Chr16:56865361 [GRCh38]
Chr16:56899273 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2181C>T (p.Ala727=) single nucleotide variant not provided [RCV001393661] Chr16:56887927 [GRCh38]
Chr16:56921839 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2239C>T (p.Gln747Ter) single nucleotide variant not provided [RCV001384291] Chr16:56887985 [GRCh38]
Chr16:56921897 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2379dup (p.Phe794fs) duplication not provided [RCV001384292] Chr16:56892092..56892093 [GRCh38]
Chr16:56926004..56926005 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.465C>T (p.Leu155=) single nucleotide variant not provided [RCV001400444] Chr16:56868332 [GRCh38]
Chr16:56902244 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.474G>C (p.Arg158=) single nucleotide variant not provided [RCV001479319] Chr16:56868341 [GRCh38]
Chr16:56902253 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1336-1G>A single nucleotide variant not provided [RCV001379242] Chr16:56879541 [GRCh38]
Chr16:56913453 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.2857-5C>T single nucleotide variant not provided [RCV001471668] Chr16:56904390 [GRCh38]
Chr16:56938302 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2502C>T (p.Tyr834=) single nucleotide variant not provided [RCV001441409] Chr16:56893035 [GRCh38]
Chr16:56926947 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2285+8G>T single nucleotide variant not provided [RCV001456449] Chr16:56888039 [GRCh38]
Chr16:56921951 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1443+8C>G single nucleotide variant not provided [RCV001485484] Chr16:56879657 [GRCh38]
Chr16:56913569 [GRCh37]
Chr16:16q13		 likely benign
NC_000016.9:g.(?_56919896)_56920945del deletion not provided [RCV001379254]   likely pathogenic
NM_001126108.2(SLC12A3):c.1926-8C>G single nucleotide variant not provided [RCV001428092] Chr16:56886356 [GRCh38]
Chr16:56920268 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.825C>T (p.Ser275=) single nucleotide variant not provided [RCV001482520] Chr16:56870709 [GRCh38]
Chr16:56904621 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1669+10C>T single nucleotide variant not provided [RCV001472259] Chr16:56882507 [GRCh38]
Chr16:56916419 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.651C>T (p.Gly217=) single nucleotide variant not provided [RCV001495430] Chr16:56870145 [GRCh38]
Chr16:56904057 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2420-37_2420-19del deletion Familial hypokalemia-hypomagnesemia [RCV002245170] Chr16:56892915..56892933 [GRCh38]
Chr16:56926827..56926845 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.2521+255G>A single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002245171]|SLC12A3-related condition [RCV003933708] Chr16:56893309 [GRCh38]
Chr16:56927221 [GRCh37]
Chr16:16q13		 likely pathogenic|likely benign
NM_001126108.2(SLC12A3):c.602-16G>A single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002245174]|not provided [RCV003560880] Chr16:56870080 [GRCh38]
Chr16:56903992 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001126108.2(SLC12A3):c.1148C>A (p.Thr383Asn) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002245182] Chr16:56878129 [GRCh38]
Chr16:56912041 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1444-18C>T single nucleotide variant not provided [RCV003108380] Chr16:56880112 [GRCh38]
Chr16:56914024 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.602-53A>G single nucleotide variant not provided [RCV001732466] Chr16:56870043 [GRCh38]
Chr16:56903955 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.931G>A (p.Asp311Asn) single nucleotide variant not provided [RCV003105079] Chr16:56872429 [GRCh38]
Chr16:56906341 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1967C>T (p.Pro656Leu) single nucleotide variant Inborn genetic diseases [RCV002539875]|not provided [RCV001756535] Chr16:56886405 [GRCh38]
Chr16:56920317 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2599G>A (p.Gly867Ser) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002243457]|not provided [RCV001756536] Chr16:56894608 [GRCh38]
Chr16:56928520 [GRCh37]
Chr16:16q13		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001126108.2(SLC12A3):c.160C>T (p.Arg54Cys) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002245162] Chr16:56865395 [GRCh38]
Chr16:56899307 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.2856G>A (p.Lys952=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002245164] Chr16:56902508 [GRCh38]
Chr16:56936420 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.1444-2_1462dup duplication Familial hypokalemia-hypomagnesemia [RCV002245167] Chr16:56880125..56880126 [GRCh38]
Chr16:56914037..56914038 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.2522-218_2522-215del deletion Familial hypokalemia-hypomagnesemia [RCV002245183] Chr16:56894311..56894314 [GRCh38]
Chr16:56928223..56928226 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2925-33A>G single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002245185] Chr16:56913231 [GRCh38]
Chr16:56947143 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.430-472_430-461del deletion Familial hypokalemia-hypomagnesemia [RCV002245186] Chr16:56867823..56867834 [GRCh38]
Chr16:56901735..56901746 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2368+185C>T single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002245188] Chr16:56890541 [GRCh38]
Chr16:56924453 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2369-191C>T single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002245189] Chr16:56891892 [GRCh38]
Chr16:56925804 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2585G>C (p.Arg862Pro) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001730038] Chr16:56894594 [GRCh38]
Chr16:56928506 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.334G>C (p.Glu112Gln) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002243459]|Inborn genetic diseases [RCV002540355]|not provided [RCV001754774] Chr16:56867121 [GRCh38]
Chr16:56901033 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1A>G (p.Met1Val) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002245154] Chr16:56865236 [GRCh38]
Chr16:56899148 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.887C>T (p.Ser296Phe) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002245157] Chr16:56872385 [GRCh38]
Chr16:56906297 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1349T>G (p.Val450Gly) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002245159] Chr16:56879555 [GRCh38]
Chr16:56913467 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1687C>T (p.Gln563Ter) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002245161] Chr16:56884066 [GRCh38]
Chr16:56917978 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2521G>C (p.Gly841Arg) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002245163] Chr16:56893054 [GRCh38]
Chr16:56926966 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.201T>A (p.Tyr67Ter) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002245168] Chr16:56865436 [GRCh38]
Chr16:56899348 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.852+243C>T single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002245175] Chr16:56870979 [GRCh38]
Chr16:56904891 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.727C>T (p.Arg243Trp) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002245176] Chr16:56870221 [GRCh38]
Chr16:56904133 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.983_1010del (p.Asn328fs) deletion Familial hypokalemia-hypomagnesemia [RCV001783751] Chr16:56872667..56872694 [GRCh38]
Chr16:56906579..56906606 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.1196G>A (p.Arg399His) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV003333198]|not provided [RCV002001456] Chr16:56879088 [GRCh38]
Chr16:56913000 [GRCh37]
Chr16:16q13		 likely pathogenic|uncertain significance
NM_001126108.2(SLC12A3):c.286G>C (p.Glu96Gln) single nucleotide variant not provided [RCV002254130] Chr16:56867073 [GRCh38]
Chr16:56900985 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.329del (p.Ser110fs) deletion Familial hypokalemia-hypomagnesemia [RCV001784974]|not provided [RCV002034575] Chr16:56867116 [GRCh38]
Chr16:56901028 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.360C>T (p.Gly120=) single nucleotide variant not provided [RCV001771539] Chr16:56867147 [GRCh38]
Chr16:56901059 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1444-190T>C single nucleotide variant not provided [RCV001786581] Chr16:56879940 [GRCh38]
Chr16:56913852 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2800_2803del (p.Arg934fs) deletion Familial hypokalemia-hypomagnesemia [RCV001733790] Chr16:56902452..56902455 [GRCh38]
Chr16:56936364..56936367 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.322C>T (p.Arg108Trp) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001733791]|not provided [RCV002477919] Chr16:56867109 [GRCh38]
Chr16:56901021 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1844C>G (p.Ser615Trp) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001801295]|not provided [RCV002541347] Chr16:56885283 [GRCh38]
Chr16:56919195 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.719A>G (p.Glu240Gly) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001801303] Chr16:56870213 [GRCh38]
Chr16:56904125 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.2633+89A>G single nucleotide variant not provided [RCV001772992] Chr16:56894731 [GRCh38]
Chr16:56928643 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1258G>A (p.Ala420Thr) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001797016]|SLC12A3-related condition [RCV003416460]|not provided [RCV002541301]|not specified [RCV003323933] Chr16:56879150 [GRCh38]
Chr16:56913062 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2152C>T (p.Arg718Cys) single nucleotide variant not provided [RCV001758316] Chr16:56887067 [GRCh38]
Chr16:56920979 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1465T>C (p.Tyr489His) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001805746] Chr16:56880151 [GRCh38]
Chr16:56914063 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.1637G>A (p.Ser546Asn) single nucleotide variant not provided [RCV001806668] Chr16:56882465 [GRCh38]
Chr16:56916377 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2863C>A (p.Arg955=) single nucleotide variant not provided [RCV001896698] Chr16:56904401 [GRCh38]
Chr16:56938313 [GRCh37]
Chr16:16q13		 likely benign|uncertain significance
NM_001126108.2(SLC12A3):c.2521+253C>T single nucleotide variant not provided [RCV001987639] Chr16:56893307 [GRCh38]
Chr16:56927219 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2659C>T (p.Arg887Ter) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001823449] Chr16:56899555 [GRCh38]
Chr16:56933467 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
NM_001126108.2(SLC12A3):c.1565T>A (p.Ile522Asn) single nucleotide variant Inborn genetic diseases [RCV003289378]|not provided [RCV002025949] Chr16:56880251 [GRCh38]
Chr16:56914163 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1674G>A (p.Trp558Ter) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002507700]|not provided [RCV001970037] Chr16:56884053 [GRCh38]
Chr16:56917965 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
NM_001126108.2(SLC12A3):c.1288T>G (p.Cys430Gly) single nucleotide variant not provided [RCV001949662] Chr16:56879180 [GRCh38]
Chr16:56913092 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2794G>T (p.Glu932Ter) single nucleotide variant not provided [RCV001949666] Chr16:56902446 [GRCh38]
Chr16:56936358 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2522-2del deletion not provided [RCV002008828] Chr16:56894529 [GRCh38]
Chr16:56928441 [GRCh37]
Chr16:16q13		 likely pathogenic
NC_000016.9:g.(?_56900972)_(56902294_?)del deletion not provided [RCV001949251] Chr16:56900972..56902294 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2273T>C (p.Ile758Thr) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001843867]|not provided [RCV002543286] Chr16:56888019 [GRCh38]
Chr16:56921931 [GRCh37]
Chr16:16q13		 likely pathogenic|uncertain significance
NM_001126108.2(SLC12A3):c.424dup (p.Val142fs) duplication not provided [RCV001864403] Chr16:56867206..56867207 [GRCh38]
Chr16:56901118..56901119 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1047del (p.Ser350fs) deletion not provided [RCV001912097] Chr16:56872735 [GRCh38]
Chr16:56906647 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1568-1G>A single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002243480]|not provided [RCV001927180] Chr16:56882395 [GRCh38]
Chr16:56916307 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.43_44del (p.Leu15fs) deletion Familial hypokalemia-hypomagnesemia [RCV001824227] Chr16:56865277..56865278 [GRCh38]
Chr16:56899189..56899190 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.2143G>A (p.Glu715Lys) single nucleotide variant not provided [RCV002003451] Chr16:56887058 [GRCh38]
Chr16:56920970 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1258_1262del (p.Ala420fs) deletion Familial hypokalemia-hypomagnesemia [RCV002471179]|not provided [RCV001895596] Chr16:56879147..56879151 [GRCh38]
Chr16:56913059..56913063 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
NM_001126108.2(SLC12A3):c.2143G>T (p.Glu715Ter) single nucleotide variant not provided [RCV001927156] Chr16:56887058 [GRCh38]
Chr16:56920970 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1335+1G>C single nucleotide variant not provided [RCV002005817] Chr16:56879228 [GRCh38]
Chr16:56913140 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.2521+1G>T single nucleotide variant not provided [RCV002005884] Chr16:56893055 [GRCh38]
Chr16:56926967 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.1444-2A>G single nucleotide variant not provided [RCV002006806] Chr16:56880128 [GRCh38]
Chr16:56914040 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.2548C>T (p.Leu850Phe) single nucleotide variant not provided [RCV001983815] Chr16:56894557 [GRCh38]
Chr16:56928469 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.2857-1G>A single nucleotide variant not provided [RCV002039458] Chr16:56904394 [GRCh38]
Chr16:56938306 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.964+1G>A single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV003323942]|not provided [RCV001890526] Chr16:56872463 [GRCh38]
Chr16:56906375 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1658C>G (p.Thr553Ser) single nucleotide variant not provided [RCV002003505] Chr16:56882486 [GRCh38]
Chr16:56916398 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.157del (p.Met53fs) deletion not provided [RCV001946904] Chr16:56865392 [GRCh38]
Chr16:56899304 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.626G>C (p.Arg209Pro) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002498026]|not provided [RCV002020283] Chr16:56870120 [GRCh38]
Chr16:56904032 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.2925-10T>A single nucleotide variant not provided [RCV001943869] Chr16:56913254 [GRCh38]
Chr16:56947166 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2515G>A (p.Asp839Asn) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002243505]|not provided [RCV002010744] Chr16:56893048 [GRCh38]
Chr16:56926960 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic|uncertain significance
NC_000016.9:g.(?_56911979)_(56918126_?)dup duplication not provided [RCV001999765] Chr16:56911979..56918126 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.88G>T (p.Glu30Ter) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002503482]|not provided [RCV001888736] Chr16:56865323 [GRCh38]
Chr16:56899235 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
NM_001126108.2(SLC12A3):c.947G>T (p.Gly316Val) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002290814]|not provided [RCV001939411] Chr16:56872445 [GRCh38]
Chr16:56906357 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
NM_001126108.2(SLC12A3):c.1238G>A (p.Trp413Ter) single nucleotide variant not provided [RCV001923306] Chr16:56879130 [GRCh38]
Chr16:56913042 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1807del (p.Val603fs) deletion not provided [RCV002035386] Chr16:56884186 [GRCh38]
Chr16:56918098 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1095+1G>T single nucleotide variant not provided [RCV001951239] Chr16:56872787 [GRCh38]
Chr16:56906699 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2900C>T (p.Ser967Phe) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV003314029]|not provided [RCV001959148] Chr16:56904438 [GRCh38]
Chr16:56938350 [GRCh37]
Chr16:16q13		 pathogenic
NC_000016.10:g.56886954del deletion not provided [RCV001962257] Chr16:56886952 [GRCh38]
Chr16:56920864 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.801G>A (p.Ser267=) single nucleotide variant not provided [RCV002029216] Chr16:56870685 [GRCh38]
Chr16:56904597 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.910A>C (p.Thr304Pro) single nucleotide variant not provided [RCV001941711] Chr16:56872408 [GRCh38]
Chr16:56906320 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1969G>A (p.Ala657Thr) single nucleotide variant not provided [RCV001952831] Chr16:56886407 [GRCh38]
Chr16:56920319 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.947G>C (p.Gly316Ala) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002497870]|not provided [RCV001941712] Chr16:56872445 [GRCh38]
Chr16:56906357 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
NM_001126108.2(SLC12A3):c.2420-2A>G single nucleotide variant not provided [RCV001993549] Chr16:56892951 [GRCh38]
Chr16:56926863 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.2856+1G>A single nucleotide variant not provided [RCV001882928] Chr16:56902509 [GRCh38]
Chr16:56936421 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2420T>A (p.Val807Glu) single nucleotide variant not provided [RCV001953283] Chr16:56892953 [GRCh38]
Chr16:56926865 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.429+1_429+28del deletion Familial hypokalemia-hypomagnesemia [RCV002243501]|not provided [RCV001988857] Chr16:56867211..56867238 [GRCh38]
Chr16:56901123..56901150 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
NM_001126108.2(SLC12A3):c.1332C>A (p.Tyr444Ter) single nucleotide variant not provided [RCV001994779] Chr16:56879224 [GRCh38]
Chr16:56913136 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.293_296dup (p.His99fs) duplication not provided [RCV001898881] Chr16:56867077..56867078 [GRCh38]
Chr16:56900989..56900990 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2091_2101del (p.Lys698fs) deletion not provided [RCV001955252] Chr16:56887006..56887016 [GRCh38]
Chr16:56920918..56920928 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1620T>A (p.Tyr540Ter) single nucleotide variant not provided [RCV001993326] Chr16:56882448 [GRCh38]
Chr16:56916360 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1619A>G (p.Tyr540Cys) single nucleotide variant not provided [RCV001975147] Chr16:56882447 [GRCh38]
Chr16:56916359 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.60del (p.Phe20fs) deletion not provided [RCV001921649] Chr16:56865295 [GRCh38]
Chr16:56899207 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1761G>C (p.Trp587Cys) single nucleotide variant not provided [RCV002011478] Chr16:56884140 [GRCh38]
Chr16:56918052 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.595_596del (p.Lys199fs) deletion not provided [RCV001877289] Chr16:56869818..56869819 [GRCh38]
Chr16:56903730..56903731 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1262G>A (p.Cys421Tyr) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV003331251]|SLC12A3-related condition [RCV003893019]|not provided [RCV001972830] Chr16:56879154 [GRCh38]
Chr16:56913066 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
NM_001126108.2(SLC12A3):c.3050C>T (p.Thr1017Ile) single nucleotide variant not provided [RCV001972834] Chr16:56913389 [GRCh38]
Chr16:56947301 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1601A>G (p.Asn534Ser) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002492218]|not provided [RCV001976704] Chr16:56882429 [GRCh38]
Chr16:56916341 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.296A>T (p.His99Leu) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002503656]|not provided [RCV001940924] Chr16:56867083 [GRCh38]
Chr16:56900995 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2419+16T>G single nucleotide variant not provided [RCV001957905] Chr16:56892149 [GRCh38]
Chr16:56926061 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1826-10G>A single nucleotide variant not provided [RCV001997146] Chr16:56885255 [GRCh38]
Chr16:56919167 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1390G>C (p.Ala464Pro) single nucleotide variant not provided [RCV001991440] Chr16:56879596 [GRCh38]
Chr16:56913508 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.602G>T (p.Gly201Val) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002243481]|not provided [RCV001938033] Chr16:56870096 [GRCh38]
Chr16:56904008 [GRCh37]
Chr16:16q13		 likely pathogenic|uncertain significance
NM_001126108.2(SLC12A3):c.2555G>A (p.Arg852His) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV003230719]|not provided [RCV001956268] Chr16:56894564 [GRCh38]
Chr16:56928476 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
NM_001126108.2(SLC12A3):c.2717_2720dup (p.His907fs) duplication Familial hypokalemia-hypomagnesemia [RCV002506984]|not provided [RCV001906059] Chr16:56899612..56899613 [GRCh38]
Chr16:56933524..56933525 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.46_47del (p.Cys16fs) microsatellite not provided [RCV001958837] Chr16:56865279..56865280 [GRCh38]
Chr16:56899191..56899192 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.602-2A>G single nucleotide variant not provided [RCV001958839] Chr16:56870094 [GRCh38]
Chr16:56904006 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2213T>G (p.Leu738Arg) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002243478]|not provided [RCV001886034] Chr16:56887959 [GRCh38]
Chr16:56921871 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
NM_001126108.2(SLC12A3):c.635G>T (p.Gly212Val) single nucleotide variant not provided [RCV002034056] Chr16:56870129 [GRCh38]
Chr16:56904041 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.2720+1G>C single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002484810]|not provided [RCV001975151] Chr16:56899617 [GRCh38]
Chr16:56933529 [GRCh37]
Chr16:16q13		 pathogenic
NC_000016.9:g.(?_56938297)_(56938384_?)del deletion not provided [RCV001975125] Chr16:56938297..56938384 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1388G>A (p.Gly463Glu) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002243499]|not provided [RCV001980278] Chr16:56879594 [GRCh38]
Chr16:56913506 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.2815del (p.Trp939fs) deletion not provided [RCV001958848] Chr16:56902467 [GRCh38]
Chr16:56936379 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1326C>G (p.Asn442Lys) single nucleotide variant not provided [RCV002019805] Chr16:56879218 [GRCh38]
Chr16:56913130 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.634G>A (p.Gly212Ser) single nucleotide variant not provided [RCV001960581] Chr16:56870128 [GRCh38]
Chr16:56904040 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2119G>T (p.Ala707Ser) single nucleotide variant not provided [RCV002028966] Chr16:56887034 [GRCh38]
Chr16:56920946 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2269del (p.Tyr757fs) deletion not provided [RCV001951181] Chr16:56888015 [GRCh38]
Chr16:56921927 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2259A>G (p.Thr753=) single nucleotide variant not provided [RCV002108144] Chr16:56888005 [GRCh38]
Chr16:56921917 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.480C>G (p.Pro160=) single nucleotide variant not provided [RCV002146949] Chr16:56868347 [GRCh38]
Chr16:56902259 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1159C>T (p.Leu387=) single nucleotide variant not provided [RCV002168841] Chr16:56878140 [GRCh38]
Chr16:56912052 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.258G>T (p.Leu86=) single nucleotide variant not provided [RCV002075918] Chr16:56865493 [GRCh38]
Chr16:56899405 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.180G>A (p.Thr60=) single nucleotide variant not provided [RCV002111397] Chr16:56865415 [GRCh38]
Chr16:56899327 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1542C>T (p.Ala514=) single nucleotide variant not provided [RCV002127624] Chr16:56880228 [GRCh38]
Chr16:56914140 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2841G>C (p.Thr947=) single nucleotide variant not provided [RCV002210322] Chr16:56902493 [GRCh38]
Chr16:56936405 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1443+8C>T single nucleotide variant not provided [RCV002085123] Chr16:56879657 [GRCh38]
Chr16:56913569 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2856+9A>G single nucleotide variant not provided [RCV002088648] Chr16:56902517 [GRCh38]
Chr16:56936429 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1872C>T (p.Ala624=) single nucleotide variant not provided [RCV002189047] Chr16:56885311 [GRCh38]
Chr16:56919223 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.489G>C (p.Thr163=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002500418]|not provided [RCV002189130] Chr16:56868356 [GRCh38]
Chr16:56902268 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2368+18C>A single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002498315]|not provided [RCV002111023] Chr16:56890374 [GRCh38]
Chr16:56924286 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1755C>A (p.Thr585=) single nucleotide variant not provided [RCV002072546] Chr16:56884134 [GRCh38]
Chr16:56918046 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1077C>T (p.Asn359=) single nucleotide variant not provided [RCV002191811] Chr16:56872768 [GRCh38]
Chr16:56906680 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1568-7C>T single nucleotide variant not provided [RCV002110913] Chr16:56882389 [GRCh38]
Chr16:56916301 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.791C>A (p.Ala264Asp) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002245156] Chr16:56870675 [GRCh38]
Chr16:56904587 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2746G>T (p.Ala916Ser) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002245180] Chr16:56902398 [GRCh38]
Chr16:56936310 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2720+8C>A single nucleotide variant not provided [RCV002071684] Chr16:56899624 [GRCh38]
Chr16:56933536 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.78G>A (p.Leu26=) single nucleotide variant not provided [RCV002189110] Chr16:56865313 [GRCh38]
Chr16:56899225 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.687G>T (p.Val229=) single nucleotide variant not provided [RCV002190168] Chr16:56870181 [GRCh38]
Chr16:56904093 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.138C>A (p.Thr46=) single nucleotide variant not provided [RCV002169896] Chr16:56865373 [GRCh38]
Chr16:56899285 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1641C>T (p.Cys547=) single nucleotide variant not provided [RCV002071380] Chr16:56882469 [GRCh38]
Chr16:56916381 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2424C>T (p.Asp808=) single nucleotide variant not provided [RCV002167933] Chr16:56892957 [GRCh38]
Chr16:56926869 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1983T>C (p.Phe661=) single nucleotide variant not provided [RCV002208506] Chr16:56886421 [GRCh38]
Chr16:56920333 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1444-4G>A single nucleotide variant not provided [RCV002116428] Chr16:56880126 [GRCh38]
Chr16:56914038 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2943G>A (p.Arg981=) single nucleotide variant not provided [RCV002193117] Chr16:56913282 [GRCh38]
Chr16:56947194 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.570A>C (p.Ser190=) single nucleotide variant not provided [RCV002114168] Chr16:56869793 [GRCh38]
Chr16:56903705 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.372C>T (p.Thr124=) single nucleotide variant not provided [RCV002087855] Chr16:56867159 [GRCh38]
Chr16:56901071 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2208C>T (p.Asn736=) single nucleotide variant not provided [RCV002215697] Chr16:56887954 [GRCh38]
Chr16:56921866 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1692C>T (p.Tyr564=) single nucleotide variant not provided [RCV002171038] Chr16:56884071 [GRCh38]
Chr16:56917983 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1988G>A (p.Gly663Asp) single nucleotide variant not provided [RCV002171085] Chr16:56886426 [GRCh38]
Chr16:56920338 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.180G>C (p.Thr60=) single nucleotide variant not provided [RCV002195536] Chr16:56865415 [GRCh38]
Chr16:56899327 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2856+7A>G single nucleotide variant not provided [RCV002215885] Chr16:56902515 [GRCh38]
Chr16:56936427 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.612C>T (p.Tyr204=) single nucleotide variant not provided [RCV002113379] Chr16:56870106 [GRCh38]
Chr16:56904018 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.288A>G (p.Glu96=) single nucleotide variant not provided [RCV002172577] Chr16:56867075 [GRCh38]
Chr16:56900987 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2283C>T (p.Leu761=) single nucleotide variant not provided [RCV002169581] Chr16:56888029 [GRCh38]
Chr16:56921941 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1567+17G>C single nucleotide variant not provided [RCV002187568] Chr16:56880270 [GRCh38]
Chr16:56914182 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2913T>G (p.Ala971=) single nucleotide variant not provided [RCV002197327] Chr16:56904451 [GRCh38]
Chr16:56938363 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.602-9C>T single nucleotide variant not provided [RCV002080581] Chr16:56870087 [GRCh38]
Chr16:56903999 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1233T>A (p.Pro411=) single nucleotide variant not provided [RCV002145346] Chr16:56879125 [GRCh38]
Chr16:56913037 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.54G>A (p.Gly18=) single nucleotide variant not provided [RCV002077771] Chr16:56865289 [GRCh38]
Chr16:56899201 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.429+7G>T single nucleotide variant not provided [RCV002197617] Chr16:56867223 [GRCh38]
Chr16:56901135 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.918C>A (p.Ile306=) single nucleotide variant not provided [RCV002078713] Chr16:56872416 [GRCh38]
Chr16:56906328 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2259A>C (p.Thr753=) single nucleotide variant not provided [RCV002078749] Chr16:56888005 [GRCh38]
Chr16:56921917 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2043C>T (p.Pro681=) single nucleotide variant not provided [RCV002079970] Chr16:56886958 [GRCh38]
Chr16:56920870 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1671G>A (p.Gly557=) single nucleotide variant not provided [RCV002085609] Chr16:56884050 [GRCh38]
Chr16:56917962 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.858G>A (p.Gln286=) single nucleotide variant not provided [RCV002071293] Chr16:56872356 [GRCh38]
Chr16:56906268 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1749C>G (p.Leu583=) single nucleotide variant not provided [RCV002151812] Chr16:56884128 [GRCh38]
Chr16:56918040 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1194G>A (p.Val398=) single nucleotide variant not provided [RCV002168044] Chr16:56879086 [GRCh38]
Chr16:56912998 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1698C>T (p.Asn566=) single nucleotide variant not provided [RCV002152530] Chr16:56884077 [GRCh38]
Chr16:56917989 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.99A>G (p.Pro33=) single nucleotide variant not provided [RCV002150112] Chr16:56865334 [GRCh38]
Chr16:56899246 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.505+10C>T single nucleotide variant not provided [RCV002210732] Chr16:56868382 [GRCh38]
Chr16:56902294 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1317C>T (p.Gly439=) single nucleotide variant not provided [RCV002197108] Chr16:56879209 [GRCh38]
Chr16:56913121 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.270C>T (p.His90=) single nucleotide variant not provided [RCV002199261] Chr16:56865505 [GRCh38]
Chr16:56899417 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1263C>T (p.Cys421=) single nucleotide variant not provided [RCV002082872] Chr16:56879155 [GRCh38]
Chr16:56913067 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.639A>G (p.Pro213=) single nucleotide variant not provided [RCV002138954] Chr16:56870133 [GRCh38]
Chr16:56904045 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2727G>A (p.Lys909=) single nucleotide variant not provided [RCV002139000] Chr16:56902379 [GRCh38]
Chr16:56936291 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2419+14A>G single nucleotide variant not provided [RCV002201443] Chr16:56892147 [GRCh38]
Chr16:56926059 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1584A>C (p.Ile528=) single nucleotide variant not provided [RCV002197981] Chr16:56882412 [GRCh38]
Chr16:56916324 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.506-4G>A single nucleotide variant not provided [RCV002220633] Chr16:56869725 [GRCh38]
Chr16:56903637 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2118G>A (p.Lys706=) single nucleotide variant not provided [RCV002154135] Chr16:56887033 [GRCh38]
Chr16:56920945 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.852+19_852+33dup duplication not provided [RCV002154289] Chr16:56870746..56870747 [GRCh38]
Chr16:56904658..56904659 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.71C>T (p.Thr24Ile) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002245158] Chr16:56865306 [GRCh38]
Chr16:56899218 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.1096-540_1181-347del deletion Familial hypokalemia-hypomagnesemia [RCV002245166] Chr16:56877537..56878726 [GRCh38]
Chr16:56911449..56912638 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2336G>A (p.Gly779Glu) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002245177] Chr16:56890324 [GRCh38]
Chr16:56924236 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2037+9C>T single nucleotide variant not provided [RCV002177665] Chr16:56886484 [GRCh38]
Chr16:56920396 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2857-17_2857-16delinsAA indel not provided [RCV002176284] Chr16:56904378..56904379 [GRCh38]
Chr16:56938290..56938291 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2169C>A (p.Ile723=) single nucleotide variant not provided [RCV002198911] Chr16:56887084 [GRCh38]
Chr16:56920996 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.189G>A (p.Val63=) single nucleotide variant not provided [RCV002182173] Chr16:56865424 [GRCh38]
Chr16:56899336 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2212C>T (p.Leu738=) single nucleotide variant not provided [RCV002184363] Chr16:56887958 [GRCh38]
Chr16:56921870 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2398G>A (p.Gly800Arg) single nucleotide variant not provided [RCV002119176] Chr16:56892112 [GRCh38]
Chr16:56926024 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.183C>T (p.Ile61=) single nucleotide variant not provided [RCV002081396] Chr16:56865418 [GRCh38]
Chr16:56899330 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.791_792delinsGA (p.Ala264Gly) indel not provided [RCV002218571] Chr16:56870675..56870676 [GRCh38]
Chr16:56904587..56904588 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1648G>A (p.Ala550Thr) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002245160]|Inborn genetic diseases [RCV004045183]|not provided [RCV002463179] Chr16:56882476 [GRCh38]
Chr16:56916388 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.3056A>G (p.Tyr1019Cys) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002245179] Chr16:56913395 [GRCh38]
Chr16:56947307 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1095+4A>G single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002245181] Chr16:56872790 [GRCh38]
Chr16:56906702 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2924+825C>T single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002245184] Chr16:56905287 [GRCh38]
Chr16:56939199 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.954C>T (p.Phe318=) single nucleotide variant not provided [RCV002156431] Chr16:56872452 [GRCh38]
Chr16:56906364 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2763T>C (p.Asn921=) single nucleotide variant not provided [RCV002100463] Chr16:56902415 [GRCh38]
Chr16:56936327 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2178+7T>G single nucleotide variant not provided [RCV002158857] Chr16:56887100 [GRCh38]
Chr16:56921012 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2038-9C>T single nucleotide variant not provided [RCV002160908] Chr16:56886944 [GRCh38]
Chr16:56920856 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.684C>T (p.Ala228=) single nucleotide variant not provided [RCV002217790] Chr16:56870178 [GRCh38]
Chr16:56904090 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2304C>T (p.Asn768=) single nucleotide variant not provided [RCV002101217] Chr16:56890292 [GRCh38]
Chr16:56924204 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1095+7A>G single nucleotide variant not provided [RCV002082689] Chr16:56872793 [GRCh38]
Chr16:56906705 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1773C>T (p.Ile591=) single nucleotide variant not provided [RCV002164543] Chr16:56884152 [GRCh38]
Chr16:56918064 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2508C>T (p.Leu836=) single nucleotide variant not provided [RCV002140581] Chr16:56893041 [GRCh38]
Chr16:56926953 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1890C>T (p.Gly630=) single nucleotide variant not provided [RCV002162542] Chr16:56885329 [GRCh38]
Chr16:56919241 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2803C>A (p.Arg935=) single nucleotide variant not provided [RCV002082947] Chr16:56902455 [GRCh38]
Chr16:56936367 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1497T>C (p.Tyr499=) single nucleotide variant not provided [RCV002157536] Chr16:56880183 [GRCh38]
Chr16:56914095 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2889G>T (p.Val963=) single nucleotide variant not provided [RCV002139177] Chr16:56904427 [GRCh38]
Chr16:56938339 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.601+8A>T single nucleotide variant not provided [RCV002177527] Chr16:56869832 [GRCh38]
Chr16:56903744 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1212C>T (p.Val404=) single nucleotide variant not provided [RCV002159458] Chr16:56879104 [GRCh38]
Chr16:56913016 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.965-9C>A single nucleotide variant not provided [RCV002156248] Chr16:56872647 [GRCh38]
Chr16:56906559 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2925-10T>C single nucleotide variant not provided [RCV002103583] Chr16:56913254 [GRCh38]
Chr16:56947166 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1428T>C (p.Ala476=) single nucleotide variant not provided [RCV002144579] Chr16:56879634 [GRCh38]
Chr16:56913546 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.939C>G (p.Ala313=) single nucleotide variant not provided [RCV002098400] Chr16:56872437 [GRCh38]
Chr16:56906349 [GRCh37]
Chr16:16q13		 likely benign
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3 copy number gain not provided [RCV002221458] Chr16:46503968..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic
NM_001126108.2(SLC12A3):c.2179-7C>T single nucleotide variant not provided [RCV002098933] Chr16:56887918 [GRCh38]
Chr16:56921830 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2235C>T (p.Asn745=) single nucleotide variant not provided [RCV002179935] Chr16:56887981 [GRCh38]
Chr16:56921893 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1959C>T (p.Asn653=) single nucleotide variant not provided [RCV002201034] Chr16:56886397 [GRCh38]
Chr16:56920309 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1005T>C (p.Gly335=) single nucleotide variant not provided [RCV002155435] Chr16:56872696 [GRCh38]
Chr16:56906608 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.282+7G>A single nucleotide variant not provided [RCV002202731] Chr16:56865524 [GRCh38]
Chr16:56899436 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1209G>A (p.Gly403=) single nucleotide variant not provided [RCV002160491] Chr16:56879101 [GRCh38]
Chr16:56913013 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2721-8G>A single nucleotide variant not provided [RCV002180314] Chr16:56902365 [GRCh38]
Chr16:56936277 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2436G>A (p.Leu812=) single nucleotide variant not provided [RCV002161574] Chr16:56892969 [GRCh38]
Chr16:56926881 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.323G>A (p.Arg108Gln) single nucleotide variant Inborn genetic diseases [RCV004046544]|not provided [RCV002123714] Chr16:56867110 [GRCh38]
Chr16:56901022 [GRCh37]
Chr16:16q13		 likely benign|uncertain significance
NM_001126108.2(SLC12A3):c.531G>A (p.Leu177=) single nucleotide variant not provided [RCV002141239] Chr16:56869754 [GRCh38]
Chr16:56903666 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.477G>C (p.Leu159=) single nucleotide variant not provided [RCV002181631] Chr16:56868344 [GRCh38]
Chr16:56902256 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2179-14_2179-7del deletion not provided [RCV002122179] Chr16:56887908..56887915 [GRCh38]
Chr16:56921820..56921827 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.861G>A (p.Val287=) single nucleotide variant not provided [RCV002122366] Chr16:56872359 [GRCh38]
Chr16:56906271 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2011C>T (p.Leu671=) single nucleotide variant not provided [RCV002219814] Chr16:56886449 [GRCh38]
Chr16:56920361 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.921C>G (p.Pro307=) single nucleotide variant not provided [RCV002176501] Chr16:56872419 [GRCh38]
Chr16:56906331 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2890C>T (p.Leu964=) single nucleotide variant not provided [RCV002099646] Chr16:56904428 [GRCh38]
Chr16:56938340 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1670-9_1670-8delinsCC indel not provided [RCV002099455] Chr16:56884040..56884041 [GRCh38]
Chr16:56917952..56917953 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2055G>A (p.Arg685=) single nucleotide variant not provided [RCV002178978] Chr16:56886970 [GRCh38]
Chr16:56920882 [GRCh37]
Chr16:16q13		 likely benign
NC_000016.9:g.(?_56917770)_(56918126_?)del deletion not provided [RCV003111061] Chr16:56917770..56918126 [GRCh37]
Chr16:16q13		 pathogenic
NC_000016.9:g.(?_56921827)_(56927219_?)dup duplication not provided [RCV003111062] Chr16:56921827..56927219 [GRCh37]
Chr16:16q13		 likely pathogenic
NC_000016.9:g.(?_56911979)_(56927219_?)dup duplication not provided [RCV003111064] Chr16:56911979..56927219 [GRCh37]
Chr16:16q13		 likely pathogenic
NC_000016.9:g.(?_56897620)_(56906303_?)del deletion not provided [RCV003111065] Chr16:56897620..56906303 [GRCh37]
Chr16:16q13		 pathogenic
NC_000016.9:g.(?_56226148)_(58768132_?)del deletion Bardet-Biedl syndrome [RCV003119976]|Early infantile epileptic encephalopathy with suppression bursts [RCV003109791] Chr16:56226148..58768132 [GRCh37]
Chr16:16q12.2-21		 pathogenic
NM_001126108.2(SLC12A3):c.283-7C>T single nucleotide variant not provided [RCV003115259] Chr16:56867063 [GRCh38]
Chr16:56900975 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.411C>T (p.Gly137=) single nucleotide variant not provided [RCV003115988] Chr16:56867198 [GRCh38]
Chr16:56901110 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1045C>G (p.Pro349Ala) single nucleotide variant not provided [RCV003708724]|not specified [RCV003123383] Chr16:56872736 [GRCh38]
Chr16:56906648 [GRCh37]
Chr16:16q13		 likely pathogenic|uncertain significance
NM_001126108.2(SLC12A3):c.1191G>A (p.Val397=) single nucleotide variant not provided [RCV003121534] Chr16:56879083 [GRCh38]
Chr16:56912995 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.671C>A (p.Ala224Asp) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002245155] Chr16:56870165 [GRCh38]
Chr16:56904077 [GRCh37]
Chr16:16q13		 likely pathogenic|conflicting interpretations of pathogenicity
NM_001126108.2(SLC12A3):c.2872A>T (p.Arg958Trp) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002245165]|Inborn genetic diseases [RCV003365715] Chr16:56904410 [GRCh38]
Chr16:56938322 [GRCh37]
Chr16:16q13		 likely pathogenic|uncertain significance
NM_001126108.2(SLC12A3):c.2037+87A>G single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002245169] Chr16:56886562 [GRCh38]
Chr16:56920474 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.283-435_283-384dup duplication Familial hypokalemia-hypomagnesemia [RCV002245173] Chr16:56866631..56866632 [GRCh38]
Chr16:56900543..56900544 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.602-11T>A single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002245187] Chr16:56870085 [GRCh38]
Chr16:56903997 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.2721-2A>T single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002245172] Chr16:56902371 [GRCh38]
Chr16:56936283 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2663T>C (p.Leu888Pro) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002245178]|not provided [RCV003560881] Chr16:56899559 [GRCh38]
Chr16:56933471 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
NM_001126108.2(SLC12A3):c.5C>G (p.Ala2Gly) single nucleotide variant not provided [RCV002278976] Chr16:56865240 [GRCh38]
Chr16:56899152 [GRCh37]
Chr16:16q13		 uncertain significance
Single allele deletion not provided [RCV002266766] Chr16:53818483..57631312 [GRCh38]
Chr16:16q12.2-21		 pathogenic
NM_001126108.2(SLC12A3):c.1568C>T (p.Ala523Val) single nucleotide variant not specified [RCV003236413] Chr16:56882396 [GRCh38]
Chr16:56916308 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.581C>T (p.Thr194Ile) single nucleotide variant not specified [RCV003236414] Chr16:56869804 [GRCh38]
Chr16:56903716 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1373C>T (p.Thr458Met) single nucleotide variant not specified [RCV003236415] Chr16:56879579 [GRCh38]
Chr16:56913491 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2925-45G>A single nucleotide variant not provided [RCV002286087] Chr16:56913219 [GRCh38]
Chr16:56947131 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2721-169C>G single nucleotide variant not provided [RCV002286176] Chr16:56902204 [GRCh38]
Chr16:56936116 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1452C>A (p.Cys484Ter) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002288428] Chr16:56880138 [GRCh38]
Chr16:56914050 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.1702del (p.Trp568fs) deletion Familial hypokalemia-hypomagnesemia [RCV002289071] Chr16:56884081 [GRCh38]
Chr16:56917993 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.2866C>G (p.Gln956Glu) single nucleotide variant not provided [RCV002297565] Chr16:56904404 [GRCh38]
Chr16:56938316 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2285+207T>C single nucleotide variant not provided [RCV002285861] Chr16:56888238 [GRCh38]
Chr16:56922150 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.979del (p.Gln327fs) deletion Familial hypokalemia-hypomagnesemia [RCV002283800] Chr16:56872669 [GRCh38]
Chr16:56906581 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.2238G>A (p.Trp746Ter) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002283819] Chr16:56887984 [GRCh38]
Chr16:56921896 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2024G>A (p.Gly675Asp) single nucleotide variant not provided [RCV002303716] Chr16:56886462 [GRCh38]
Chr16:56920374 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2765A>C (p.Asp922Ala) single nucleotide variant not provided [RCV002295401] Chr16:56902417 [GRCh38]
Chr16:56936329 [GRCh37]
Chr16:16q13		 uncertain significance
NM_000339.2:c.(?_-30)_885del deletion Familial hypokalemia-hypomagnesemia [RCV002308709]   likely pathogenic
NM_001126108.2(SLC12A3):c.2924+9T>A single nucleotide variant not provided [RCV002816264] Chr16:56904471 [GRCh38]
Chr16:56938383 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2179-7del deletion not provided [RCV002816548] Chr16:56887915 [GRCh38]
Chr16:56921827 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.3041del (p.Asn1014fs) deletion not provided [RCV002751572] Chr16:56913377 [GRCh38]
Chr16:56947289 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.298C>T (p.Leu100=) single nucleotide variant not provided [RCV003013630] Chr16:56867085 [GRCh38]
Chr16:56900997 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2330G>A (p.Arg777Gln) single nucleotide variant not provided [RCV002994299] Chr16:56890318 [GRCh38]
Chr16:56924230 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.283-8G>A single nucleotide variant not provided [RCV002815970] Chr16:56867062 [GRCh38]
Chr16:56900974 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1288T>A (p.Cys430Ser) single nucleotide variant not provided [RCV002750741] Chr16:56879180 [GRCh38]
Chr16:56913092 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.1416C>T (p.Cys472=) single nucleotide variant not provided [RCV002751219] Chr16:56879622 [GRCh38]
Chr16:56913534 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.779T>C (p.Ile260Thr) single nucleotide variant Inborn genetic diseases [RCV002861166] Chr16:56870663 [GRCh38]
Chr16:56904575 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1066G>T (p.Ala356Ser) single nucleotide variant not provided [RCV002775209] Chr16:56872757 [GRCh38]
Chr16:56906669 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1152T>C (p.Ile384=) single nucleotide variant not provided [RCV002838592] Chr16:56878133 [GRCh38]
Chr16:56912045 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.710G>C (p.Gly237Ala) single nucleotide variant Inborn genetic diseases [RCV002752562] Chr16:56870204 [GRCh38]
Chr16:56904116 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.741+2T>G single nucleotide variant not provided [RCV002858095] Chr16:56870237 [GRCh38]
Chr16:56904149 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.670G>A (p.Ala224Thr) single nucleotide variant not provided [RCV003073945] Chr16:56870164 [GRCh38]
Chr16:56904076 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.162C>T (p.Arg54=) single nucleotide variant not provided [RCV002904170] Chr16:56865397 [GRCh38]
Chr16:56899309 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1227G>T (p.Val409=) single nucleotide variant not provided [RCV002862940] Chr16:56879119 [GRCh38]
Chr16:56913031 [GRCh37]
Chr16:16q13		 likely benign
NC_000016.10:g.56872351del deletion not provided [RCV002819877] Chr16:56872350 [GRCh38]
Chr16:56906262 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2522-2A>C single nucleotide variant not provided [RCV003011982] Chr16:56894529 [GRCh38]
Chr16:56928441 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.1618T>C (p.Tyr540His) single nucleotide variant not provided [RCV003034729] Chr16:56882446 [GRCh38]
Chr16:56916358 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.2368+3G>T single nucleotide variant not provided [RCV002690429] Chr16:56890359 [GRCh38]
Chr16:56924271 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1329T>C (p.Tyr443=) single nucleotide variant not provided [RCV002975360] Chr16:56879221 [GRCh38]
Chr16:56913133 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1825+9C>G single nucleotide variant not provided [RCV002909049] Chr16:56884213 [GRCh38]
Chr16:56918125 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1390dup (p.Ala464fs) duplication not provided [RCV002947338] Chr16:56879592..56879593 [GRCh38]
Chr16:56913504..56913505 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2812C>T (p.Pro938Ser) single nucleotide variant Inborn genetic diseases [RCV002839778] Chr16:56902464 [GRCh38]
Chr16:56936376 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.429+7G>A single nucleotide variant not provided [RCV002842567] Chr16:56867223 [GRCh38]
Chr16:56901135 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1400C>T (p.Ser467Phe) single nucleotide variant not provided [RCV003076401] Chr16:56879606 [GRCh38]
Chr16:56913518 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.3057C>T (p.Tyr1019=) single nucleotide variant not provided [RCV002903907] Chr16:56913396 [GRCh38]
Chr16:56947308 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2530C>T (p.Leu844Phe) single nucleotide variant not provided [RCV002731532] Chr16:56894539 [GRCh38]
Chr16:56928451 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1530G>C (p.Leu510=) single nucleotide variant not provided [RCV002905016] Chr16:56880216 [GRCh38]
Chr16:56914128 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2585G>A (p.Arg862His) single nucleotide variant not provided [RCV002518412] Chr16:56894594 [GRCh38]
Chr16:56928506 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.505+9C>T single nucleotide variant not provided [RCV002842078] Chr16:56868381 [GRCh38]
Chr16:56902293 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.811C>T (p.Leu271=) single nucleotide variant not provided [RCV002903766] Chr16:56870695 [GRCh38]
Chr16:56904607 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.965-10G>C single nucleotide variant not provided [RCV002815957] Chr16:56872646 [GRCh38]
Chr16:56906558 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1795C>T (p.Leu599Phe) single nucleotide variant Inborn genetic diseases [RCV003167876]|not provided [RCV002907647] Chr16:56884174 [GRCh38]
Chr16:56918086 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1658C>A (p.Thr553Asn) single nucleotide variant Inborn genetic diseases [RCV002901126] Chr16:56882486 [GRCh38]
Chr16:56916398 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2368+2del deletion not provided [RCV002838203] Chr16:56890358 [GRCh38]
Chr16:56924270 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.786C>T (p.Ile262=) single nucleotide variant not provided [RCV002881686] Chr16:56870670 [GRCh38]
Chr16:56904582 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.732C>T (p.Asp244=) single nucleotide variant not provided [RCV002838923] Chr16:56870226 [GRCh38]
Chr16:56904138 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1335+13G>A single nucleotide variant not provided [RCV002618321] Chr16:56879240 [GRCh38]
Chr16:56913152 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2857-16G>A single nucleotide variant not provided [RCV002616210] Chr16:56904379 [GRCh38]
Chr16:56938291 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.792C>T (p.Ala264=) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV002496214]|not provided [RCV003561056] Chr16:56870676 [GRCh38]
Chr16:56904588 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1086T>A (p.Gly362=) single nucleotide variant not provided [RCV002995465] Chr16:56872777 [GRCh38]
Chr16:56906689 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2385C>T (p.Asp795=) single nucleotide variant not provided [RCV002863678] Chr16:56892099 [GRCh38]
Chr16:56926011 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.505G>A (p.Val169Ile) single nucleotide variant not provided [RCV002948622] Chr16:56868372 [GRCh38]
Chr16:56902284 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1926-5_1926-3del microsatellite not provided [RCV002870765] Chr16:56886355..56886357 [GRCh38]
Chr16:56920267..56920269 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.430-16C>A single nucleotide variant not provided [RCV002640624] Chr16:56868281 [GRCh38]
Chr16:56902193 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.393G>A (p.Glu131=) single nucleotide variant not provided [RCV003079841] Chr16:56867180 [GRCh38]
Chr16:56901092 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.831T>C (p.Ala277=) single nucleotide variant not provided [RCV002848029] Chr16:56870715 [GRCh38]
Chr16:56904627 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2085G>A (p.Gly695=) single nucleotide variant not provided [RCV002953562] Chr16:56887000 [GRCh38]
Chr16:56920912 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2472G>C (p.Ser824=) single nucleotide variant not provided [RCV002663122] Chr16:56893005 [GRCh38]
Chr16:56926917 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2329C>T (p.Arg777Trp) single nucleotide variant Inborn genetic diseases [RCV002707769] Chr16:56890317 [GRCh38]
Chr16:56924229 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2310C>A (p.Gly770=) single nucleotide variant not provided [RCV002825636] Chr16:56890298 [GRCh38]
Chr16:56924210 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.3048C>T (p.Leu1016=) single nucleotide variant not provided [RCV002848258] Chr16:56913387 [GRCh38]
Chr16:56947299 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2978G>T (p.Trp993Leu) single nucleotide variant not provided [RCV002636336] Chr16:56913317 [GRCh38]
Chr16:56947229 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.1670-2A>G single nucleotide variant not provided [RCV002889775] Chr16:56884047 [GRCh38]
Chr16:56917959 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.1950G>C (p.Gly650=) single nucleotide variant not provided [RCV002979711] Chr16:56886388 [GRCh38]
Chr16:56920300 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1181-20G>A single nucleotide variant not provided [RCV002756857] Chr16:56879053 [GRCh38]
Chr16:56912965 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2614A>G (p.Met872Val) single nucleotide variant not provided [RCV002949474] Chr16:56894623 [GRCh38]
Chr16:56928535 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1413C>T (p.Ala471=) single nucleotide variant not provided [RCV003078195] Chr16:56879619 [GRCh38]
Chr16:56913531 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.510G>A (p.Leu170=) single nucleotide variant not provided [RCV002706203] Chr16:56869733 [GRCh38]
Chr16:56903645 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2292C>G (p.Ala764=) single nucleotide variant not provided [RCV002694859] Chr16:56890280 [GRCh38]
Chr16:56924192 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1508A>G (p.Lys503Arg) single nucleotide variant Inborn genetic diseases [RCV002869695] Chr16:56880194 [GRCh38]
Chr16:56914106 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1896T>C (p.Asn632=) single nucleotide variant not provided [RCV002885121] Chr16:56885335 [GRCh38]
Chr16:56919247 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.66C>T (p.Ile22=) single nucleotide variant not provided [RCV002886081] Chr16:56865301 [GRCh38]
Chr16:56899213 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1728C>T (p.Ile576=) single nucleotide variant not provided [RCV002620751] Chr16:56884107 [GRCh38]
Chr16:56918019 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2037+4A>G single nucleotide variant not provided [RCV002637447] Chr16:56886479 [GRCh38]
Chr16:56920391 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1999del (p.Arg667fs) deletion not provided [RCV002796581] Chr16:56886435 [GRCh38]
Chr16:56920347 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2553C>A (p.Gly851=) single nucleotide variant not provided [RCV002867640] Chr16:56894562 [GRCh38]
Chr16:56928474 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2634-12T>A single nucleotide variant not provided [RCV002621314] Chr16:56899518 [GRCh38]
Chr16:56933430 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1435G>A (p.Val479Ile) single nucleotide variant not provided [RCV003078377] Chr16:56879641 [GRCh38]
Chr16:56913553 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1664C>A (p.Ser555Ter) single nucleotide variant not provided [RCV002979285] Chr16:56882492 [GRCh38]
Chr16:56916404 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1600A>C (p.Asn534His) single nucleotide variant Inborn genetic diseases [RCV004065287]|not provided [RCV002979747] Chr16:56882428 [GRCh38]
Chr16:56916340 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2710C>T (p.Arg904Trp) single nucleotide variant Inborn genetic diseases [RCV003077745]|not provided [RCV003081411] Chr16:56899606 [GRCh38]
Chr16:56933518 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2131del (p.Asp711fs) deletion not provided [RCV002820785] Chr16:56887045 [GRCh38]
Chr16:56920957 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.803T>A (p.Val268Asp) single nucleotide variant Inborn genetic diseases [RCV002691672] Chr16:56870687 [GRCh38]
Chr16:56904599 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1953C>T (p.Pro651=) single nucleotide variant not provided [RCV003079479] Chr16:56886391 [GRCh38]
Chr16:56920303 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.704C>T (p.Thr235Met) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV003138490]|not provided [RCV003079274] Chr16:56870198 [GRCh38]
Chr16:56904110 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2522-19C>G single nucleotide variant not provided [RCV002638102] Chr16:56894512 [GRCh38]
Chr16:56928424 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.538A>T (p.Thr180Ser) single nucleotide variant Inborn genetic diseases [RCV002848590] Chr16:56869761 [GRCh38]
Chr16:56903673 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2667A>T (p.Gly889=) single nucleotide variant not provided [RCV002866395] Chr16:56899563 [GRCh38]
Chr16:56933475 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.37G>A (p.Ala13Thr) single nucleotide variant Inborn genetic diseases [RCV004070503]|not provided [RCV002636664] Chr16:56865272 [GRCh38]
Chr16:56899184 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2898C>T (p.Tyr966=) single nucleotide variant not provided [RCV002847461] Chr16:56904436 [GRCh38]
Chr16:56938348 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.303T>A (p.His101Gln) single nucleotide variant Inborn genetic diseases [RCV002868169] Chr16:56867090 [GRCh38]
Chr16:56901002 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2738A>G (p.Asp913Gly) single nucleotide variant not provided [RCV003080014] Chr16:56902390 [GRCh38]
Chr16:56936302 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1520G>A (p.Arg507His) single nucleotide variant not provided [RCV002913096] Chr16:56880206 [GRCh38]
Chr16:56914118 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2720+2T>G single nucleotide variant not provided [RCV003058505] Chr16:56899618 [GRCh38]
Chr16:56933530 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.430-11T>C single nucleotide variant not provided [RCV002805817] Chr16:56868286 [GRCh38]
Chr16:56902198 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.741+14del deletion not provided [RCV003082646] Chr16:56870244 [GRCh38]
Chr16:56904156 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.360C>A (p.Gly120=) single nucleotide variant not provided [RCV002876255] Chr16:56867147 [GRCh38]
Chr16:56901059 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.800C>T (p.Ser267Leu) single nucleotide variant Inborn genetic diseases [RCV002873011] Chr16:56870684 [GRCh38]
Chr16:56904596 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.788T>C (p.Ile263Thr) single nucleotide variant not provided [RCV003025596] Chr16:56870672 [GRCh38]
Chr16:56904584 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.923C>T (p.Pro308Leu) single nucleotide variant Inborn genetic diseases [RCV002919733] Chr16:56872421 [GRCh38]
Chr16:56906333 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2467C>T (p.Gln823Ter) single nucleotide variant not provided [RCV002627169] Chr16:56893000 [GRCh38]
Chr16:56926912 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.567C>T (p.Ile189=) single nucleotide variant not provided [RCV002830077] Chr16:56869790 [GRCh38]
Chr16:56903702 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2916C>T (p.Leu972=) single nucleotide variant not provided [RCV002745485] Chr16:56904454 [GRCh38]
Chr16:56938366 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2038-11C>T single nucleotide variant not provided [RCV002644402] Chr16:56886942 [GRCh38]
Chr16:56920854 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1236C>T (p.Gly412=) single nucleotide variant not provided [RCV003043688] Chr16:56879128 [GRCh38]
Chr16:56913040 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.252C>T (p.Pro84=) single nucleotide variant not provided [RCV002626946] Chr16:56865487 [GRCh38]
Chr16:56899399 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.452G>A (p.Trp151Ter) single nucleotide variant not provided [RCV003058501] Chr16:56868319 [GRCh38]
Chr16:56902231 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.486_490delinsA (p.Thr163fs) indel not provided [RCV003058502] Chr16:56868353..56868357 [GRCh38]
Chr16:56902265..56902269 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2028C>G (p.His676Gln) single nucleotide variant not provided [RCV002958327] Chr16:56886466 [GRCh38]
Chr16:56920378 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2745T>A (p.Ile915=) single nucleotide variant not provided [RCV002876711] Chr16:56902397 [GRCh38]
Chr16:56936309 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2129C>A (p.Ser710Ter) single nucleotide variant not provided [RCV003041260] Chr16:56887044 [GRCh38]
Chr16:56920956 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1424C>T (p.Ser475Phe) single nucleotide variant not provided [RCV003024437] Chr16:56879630 [GRCh38]
Chr16:56913542 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.1986G>A (p.Val662=) single nucleotide variant not provided [RCV002890092] Chr16:56886424 [GRCh38]
Chr16:56920336 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1568-8C>A single nucleotide variant not provided [RCV003057542] Chr16:56882388 [GRCh38]
Chr16:56916300 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2593G>A (p.Val865Ile) single nucleotide variant not provided [RCV003082941] Chr16:56894602 [GRCh38]
Chr16:56928514 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.512C>A (p.Thr171Asn) single nucleotide variant Inborn genetic diseases [RCV002929369] Chr16:56869735 [GRCh38]
Chr16:56903647 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2286-17A>T single nucleotide variant not provided [RCV002574997] Chr16:56890257 [GRCh38]
Chr16:56924169 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.205C>T (p.His69Tyr) single nucleotide variant not provided [RCV002573131] Chr16:56865440 [GRCh38]
Chr16:56899352 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1056A>C (p.Thr352=) single nucleotide variant not provided [RCV003023787] Chr16:56872747 [GRCh38]
Chr16:56906659 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1701G>A (p.Lys567=) single nucleotide variant not provided [RCV002741264] Chr16:56884080 [GRCh38]
Chr16:56917992 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.466dup (p.Tyr156fs) duplication not provided [RCV003058108] Chr16:56868332..56868333 [GRCh38]
Chr16:56902244..56902245 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.3024C>A (p.Ile1008=) single nucleotide variant not provided [RCV002876441] Chr16:56913363 [GRCh38]
Chr16:56947275 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1947G>A (p.Thr649=) single nucleotide variant not provided [RCV002957349] Chr16:56886385 [GRCh38]
Chr16:56920297 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.676G>A (p.Ala226Thr) single nucleotide variant not provided [RCV003041258] Chr16:56870170 [GRCh38]
Chr16:56904082 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.1464G>A (p.Leu488=) single nucleotide variant not provided [RCV002745646] Chr16:56880150 [GRCh38]
Chr16:56914062 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.582C>G (p.Thr194=) single nucleotide variant not provided [RCV003024447] Chr16:56869805 [GRCh38]
Chr16:56903717 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1181-10C>G single nucleotide variant not provided [RCV002575332] Chr16:56879063 [GRCh38]
Chr16:56912975 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1360G>A (p.Ala454Thr) single nucleotide variant Inborn genetic diseases [RCV004070225]|not provided [RCV003056477] Chr16:56879566 [GRCh38]
Chr16:56913478 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2286-18C>T single nucleotide variant not provided [RCV003056766]|not specified [RCV003491215] Chr16:56890256 [GRCh38]
Chr16:56924168 [GRCh37]
Chr16:16q13		 benign|likely benign
NM_001126108.2(SLC12A3):c.1756T>G (p.Trp586Gly) single nucleotide variant Inborn genetic diseases [RCV002919318] Chr16:56884135 [GRCh38]
Chr16:56918047 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2521+253C>G single nucleotide variant not provided [RCV003084272] Chr16:56893307 [GRCh38]
Chr16:56927219 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2286-5T>C single nucleotide variant not provided [RCV003041838] Chr16:56890269 [GRCh38]
Chr16:56924181 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1401C>T (p.Ser467=) single nucleotide variant not provided [RCV003005522] Chr16:56879607 [GRCh38]
Chr16:56913519 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1535C>T (p.Ala512Val) single nucleotide variant Inborn genetic diseases [RCV002712564] Chr16:56880221 [GRCh38]
Chr16:56914133 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1914C>A (p.Ile638=) single nucleotide variant not provided [RCV002576147] Chr16:56885353 [GRCh38]
Chr16:56919265 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2925-17T>C single nucleotide variant not provided [RCV002663967] Chr16:56913247 [GRCh38]
Chr16:56947159 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1143G>A (p.Trp381Ter) single nucleotide variant not provided [RCV003058503] Chr16:56878124 [GRCh38]
Chr16:56912036 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2979G>C (p.Trp993Cys) single nucleotide variant not provided [RCV003058506] Chr16:56913318 [GRCh38]
Chr16:56947230 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.181_190del (p.Ile61fs) deletion not provided [RCV002958173] Chr16:56865415..56865424 [GRCh38]
Chr16:56899327..56899336 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.744G>T (p.Glu248Asp) single nucleotide variant not provided [RCV003082533] Chr16:56870628 [GRCh38]
Chr16:56904540 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2721-9C>T single nucleotide variant not provided [RCV002790243] Chr16:56902364 [GRCh38]
Chr16:56936276 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.165C>T (p.Thr55=) single nucleotide variant not provided [RCV002766633] Chr16:56865400 [GRCh38]
Chr16:56899312 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1723A>G (p.Ile575Val) single nucleotide variant Inborn genetic diseases [RCV002915031]|not provided [RCV002928410] Chr16:56884102 [GRCh38]
Chr16:56918014 [GRCh37]
Chr16:16q13		 likely benign|uncertain significance
NM_001126108.2(SLC12A3):c.1096-110_1119delinsCAT indel not provided [RCV002829248] Chr16:56877967..56878100 [GRCh38]
Chr16:56911879..56912012 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.436del (p.Cys146fs) deletion not provided [RCV003022942] Chr16:56868302 [GRCh38]
Chr16:56902214 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1967del (p.Pro656fs) deletion not provided [RCV003058504] Chr16:56886403 [GRCh38]
Chr16:56920315 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2977T>C (p.Trp993Arg) single nucleotide variant not provided [RCV002829654] Chr16:56913316 [GRCh38]
Chr16:56947228 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.533C>G (p.Ser178Trp) single nucleotide variant not provided [RCV002801529] Chr16:56869756 [GRCh38]
Chr16:56903668 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.2835G>A (p.Glu945=) single nucleotide variant not provided [RCV003023577] Chr16:56902487 [GRCh38]
Chr16:56936399 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1568-14C>T single nucleotide variant not provided [RCV002630001] Chr16:56882382 [GRCh38]
Chr16:56916294 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.2884A>G (p.Ile962Val) single nucleotide variant Inborn genetic diseases [RCV002813071] Chr16:56904422 [GRCh38]
Chr16:56938334 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2037C>T (p.Ile679=) single nucleotide variant not provided [RCV002966702] Chr16:56886475 [GRCh38]
Chr16:56920387 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2419+23C>A single nucleotide variant not provided [RCV003048736] Chr16:56892156 [GRCh38]
Chr16:56926068 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2368+17C>G single nucleotide variant not provided [RCV003087389] Chr16:56890373 [GRCh38]
Chr16:56924285 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2361G>C (p.Gln787His) single nucleotide variant Inborn genetic diseases [RCV002674024] Chr16:56890349 [GRCh38]
Chr16:56924261 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1035C>T (p.Ser345=) single nucleotide variant not provided [RCV002675679] Chr16:56872726 [GRCh38]
Chr16:56906638 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1844C>A (p.Ser615Ter) single nucleotide variant not provided [RCV003063916] Chr16:56885283 [GRCh38]
Chr16:56919195 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2374C>T (p.Pro792Ser) single nucleotide variant not provided [RCV002632370] Chr16:56892088 [GRCh38]
Chr16:56926000 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2285+1del deletion not provided [RCV003045887] Chr16:56888032 [GRCh38]
Chr16:56921944 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.433C>T (p.Arg145Cys) single nucleotide variant not provided [RCV003064339] Chr16:56868300 [GRCh38]
Chr16:56902212 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1121G>T (p.Gly374Val) single nucleotide variant not provided [RCV003064341] Chr16:56878102 [GRCh38]
Chr16:56912014 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.2721-7T>C single nucleotide variant not provided [RCV002676019] Chr16:56902366 [GRCh38]
Chr16:56936278 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.185A>G (p.Asp62Gly) single nucleotide variant not provided [RCV003064338] Chr16:56865420 [GRCh38]
Chr16:56899332 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2903G>A (p.Arg968Gln) single nucleotide variant not provided [RCV003064348] Chr16:56904441 [GRCh38]
Chr16:56938353 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1424C>G (p.Ser475Cys) single nucleotide variant not provided [RCV003064344] Chr16:56879630 [GRCh38]
Chr16:56913542 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1575C>T (p.Leu525=) single nucleotide variant not provided [RCV003047263] Chr16:56882403 [GRCh38]
Chr16:56916315 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2161G>A (p.Val721Ile) single nucleotide variant not provided [RCV002629928] Chr16:56887076 [GRCh38]
Chr16:56920988 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.612C>G (p.Tyr204Ter) single nucleotide variant not provided [RCV002628027] Chr16:56870106 [GRCh38]
Chr16:56904018 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.602-6T>C single nucleotide variant not provided [RCV002715956] Chr16:56870090 [GRCh38]
Chr16:56904002 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1293C>A (p.Thr431=) single nucleotide variant not provided [RCV002833124] Chr16:56879185 [GRCh38]
Chr16:56913097 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2679_2691del (p.His894fs) deletion not provided [RCV002899459] Chr16:56899574..56899586 [GRCh38]
Chr16:56933486..56933498 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.486_489del (p.Ile162fs) deletion not provided [RCV002770757] Chr16:56868353..56868356 [GRCh38]
Chr16:56902265..56902268 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.965-13C>T single nucleotide variant not provided [RCV002629761] Chr16:56872643 [GRCh38]
Chr16:56906555 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2346G>A (p.Val782=) single nucleotide variant not provided [RCV002715864] Chr16:56890334 [GRCh38]
Chr16:56924246 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.10C>T (p.Leu4=) single nucleotide variant not provided [RCV002578033] Chr16:56865245 [GRCh38]
Chr16:56899157 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.863T>G (p.Leu288Arg) single nucleotide variant not provided [RCV002857433] Chr16:56872361 [GRCh38]
Chr16:56906273 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2517T>C (p.Asp839=) single nucleotide variant not provided [RCV002810111] Chr16:56893050 [GRCh38]
Chr16:56926962 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.480C>T (p.Pro160=) single nucleotide variant not provided [RCV002938388] Chr16:56868347 [GRCh38]
Chr16:56902259 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2252C>T (p.Pro751Leu) single nucleotide variant not provided [RCV002647740] Chr16:56887998 [GRCh38]
Chr16:56921910 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.836T>G (p.Met279Arg) single nucleotide variant not provided [RCV003087403] Chr16:56870720 [GRCh38]
Chr16:56904632 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.602-17C>T single nucleotide variant not provided [RCV003061131] Chr16:56870079 [GRCh38]
Chr16:56903991 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2369-2A>G single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV003324041]|not provided [RCV002675775] Chr16:56892081 [GRCh38]
Chr16:56925993 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.2633+10del deletion not provided [RCV003047914] Chr16:56894651 [GRCh38]
Chr16:56928563 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1000C>T (p.Arg334Trp) single nucleotide variant SLC12A3-related condition [RCV003403969]|not provided [RCV002933698] Chr16:56872691 [GRCh38]
Chr16:56906603 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
NM_001126108.2(SLC12A3):c.301C>A (p.His101Asn) single nucleotide variant Inborn genetic diseases [RCV002702415] Chr16:56867088 [GRCh38]
Chr16:56901000 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1457A>C (p.Asp486Ala) single nucleotide variant not provided [RCV003086294] Chr16:56880143 [GRCh38]
Chr16:56914055 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.2367C>G (p.His789Gln) single nucleotide variant not provided [RCV002963380] Chr16:56890355 [GRCh38]
Chr16:56924267 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.489G>A (p.Thr163=) single nucleotide variant not provided [RCV003090616] Chr16:56868356 [GRCh38]
Chr16:56902268 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2850A>C (p.Arg950Ser) single nucleotide variant Inborn genetic diseases [RCV002899926]|not provided [RCV002899925] Chr16:56902502 [GRCh38]
Chr16:56936414 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1825+4C>T single nucleotide variant not provided [RCV002629759] Chr16:56884208 [GRCh38]
Chr16:56918120 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2522-19C>T single nucleotide variant not provided [RCV002629798] Chr16:56894512 [GRCh38]
Chr16:56928424 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.30T>G (p.Pro10=) single nucleotide variant not provided [RCV002938118] Chr16:56865265 [GRCh38]
Chr16:56899177 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.184G>C (p.Asp62His) single nucleotide variant not provided [RCV003064337] Chr16:56865419 [GRCh38]
Chr16:56899331 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.1196G>C (p.Arg399Pro) single nucleotide variant not provided [RCV003064342] Chr16:56879088 [GRCh38]
Chr16:56913000 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1763C>A (p.Ala588Glu) single nucleotide variant not provided [RCV003064345] Chr16:56884142 [GRCh38]
Chr16:56918054 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.3065A>G (p.Ter1022=) single nucleotide variant not provided [RCV002670726] Chr16:56913404 [GRCh38]
Chr16:56947316 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1336-3C>T single nucleotide variant not provided [RCV002599766] Chr16:56879539 [GRCh38]
Chr16:56913451 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2442G>A (p.Lys814=) single nucleotide variant not provided [RCV003009437] Chr16:56892975 [GRCh38]
Chr16:56926887 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.51C>A (p.Ser17Arg) single nucleotide variant Inborn genetic diseases [RCV003068937]|not provided [RCV003063624] Chr16:56865286 [GRCh38]
Chr16:56899198 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.291C>A (p.Gly97=) single nucleotide variant not provided [RCV002676113] Chr16:56867078 [GRCh38]
Chr16:56900990 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.528G>C (p.Leu176=) single nucleotide variant not provided [RCV002921947] Chr16:56869751 [GRCh38]
Chr16:56903663 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2721-2A>C single nucleotide variant not provided [RCV003047643] Chr16:56902371 [GRCh38]
Chr16:56936283 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.1725C>T (p.Ile575=) single nucleotide variant not provided [RCV002833305] Chr16:56884104 [GRCh38]
Chr16:56918016 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1644C>T (p.Phe548=) single nucleotide variant not provided [RCV003030626] Chr16:56882472 [GRCh38]
Chr16:56916384 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.864G>A (p.Leu288=) single nucleotide variant not provided [RCV003092865] Chr16:56872362 [GRCh38]
Chr16:56906274 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.106G>T (p.Ala36Ser) single nucleotide variant not provided [RCV003051203] Chr16:56865341 [GRCh38]
Chr16:56899253 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2924+9T>C single nucleotide variant not provided [RCV002725887] Chr16:56904471 [GRCh38]
Chr16:56938383 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.150C>T (p.Thr50=) single nucleotide variant not provided [RCV002583858] Chr16:56865385 [GRCh38]
Chr16:56899297 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1925+2T>A single nucleotide variant not provided [RCV003066102] Chr16:56885366 [GRCh38]
Chr16:56919278 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.506-10C>A single nucleotide variant not provided [RCV003066119] Chr16:56869719 [GRCh38]
Chr16:56903631 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.237C>T (p.Pro79=) single nucleotide variant not provided [RCV002653858] Chr16:56865472 [GRCh38]
Chr16:56899384 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1443+9G>T single nucleotide variant not provided [RCV002721647] Chr16:56879658 [GRCh38]
Chr16:56913570 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2800C>T (p.Arg934Trp) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV003988065]|not provided [RCV002654662] Chr16:56902452 [GRCh38]
Chr16:56936364 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
NM_001126108.2(SLC12A3):c.430-12dup duplication not provided [RCV003067642] Chr16:56868279..56868280 [GRCh38]
Chr16:56902191..56902192 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.2377G>A (p.Val793Met) single nucleotide variant not provided [RCV002654880] Chr16:56892091 [GRCh38]
Chr16:56926003 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1764G>A (p.Ala588=) single nucleotide variant not provided [RCV003066657] Chr16:56884143 [GRCh38]
Chr16:56918055 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2303A>G (p.Asn768Ser) single nucleotide variant not provided [RCV003072018] Chr16:56890291 [GRCh38]
Chr16:56924203 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2178+14G>T single nucleotide variant not provided [RCV003073313] Chr16:56887107 [GRCh38]
Chr16:56921019 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1547C>T (p.Ala516Val) single nucleotide variant not provided [RCV003050766] Chr16:56880233 [GRCh38]
Chr16:56914145 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.136A>G (p.Thr46Ala) single nucleotide variant not provided [RCV003072387] Chr16:56865371 [GRCh38]
Chr16:56899283 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1084G>A (p.Gly362Ser) single nucleotide variant not provided [RCV002634680] Chr16:56872775 [GRCh38]
Chr16:56906687 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1967C>G (p.Pro656Arg) single nucleotide variant not provided [RCV002609250] Chr16:56886405 [GRCh38]
Chr16:56920317 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.671_672del (p.Ala224fs) deletion not provided [RCV002588873] Chr16:56870165..56870166 [GRCh38]
Chr16:56904077..56904078 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1291A>G (p.Thr431Ala) single nucleotide variant not provided [RCV002611291] Chr16:56879183 [GRCh38]
Chr16:56913095 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1670-191C>G single nucleotide variant SLC12A3-related condition [RCV003943765]|not provided [RCV003069656] Chr16:56883858 [GRCh38]
Chr16:56917770 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2419+11A>G single nucleotide variant not provided [RCV002609702] Chr16:56892144 [GRCh38]
Chr16:56926056 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2191G>T (p.Gly731Trp) single nucleotide variant not provided [RCV002725266] Chr16:56887937 [GRCh38]
Chr16:56921849 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.1568-10G>C single nucleotide variant not provided [RCV002681039] Chr16:56882386 [GRCh38]
Chr16:56916298 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2453_2479del (p.Ala818_Gln826del) deletion not provided [RCV003070810] Chr16:56892978..56893004 [GRCh38]
Chr16:56926890..56926916 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.793G>A (p.Val265Met) single nucleotide variant Inborn genetic diseases [RCV002652544]|not provided [RCV003108153]|not specified [RCV003404140] Chr16:56870677 [GRCh38]
Chr16:56904589 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1556T>C (p.Phe519Ser) single nucleotide variant Inborn genetic diseases [RCV003193288] Chr16:56880242 [GRCh38]
Chr16:56914154 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.401T>C (p.Val134Ala) single nucleotide variant Inborn genetic diseases [RCV003216121] Chr16:56867188 [GRCh38]
Chr16:56901100 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.754C>G (p.Pro252Ala) single nucleotide variant Inborn genetic diseases [RCV003221084] Chr16:56870638 [GRCh38]
Chr16:56904550 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1876A>G (p.Ser626Gly) single nucleotide variant Inborn genetic diseases [RCV003180338] Chr16:56885315 [GRCh38]
Chr16:56919227 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.426del (p.Val142_Met143insTer) deletion Familial hypokalemia-hypomagnesemia [RCV003134015] Chr16:56867213 [GRCh38]
Chr16:56901125 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.1668del (p.Trp558fs) deletion Familial hypokalemia-hypomagnesemia [RCV003158009] Chr16:56882496 [GRCh38]
Chr16:56916408 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.575T>C (p.Ile192Thr) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV003136718] Chr16:56869798 [GRCh38]
Chr16:56903710 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.752C>T (p.Ala251Val) single nucleotide variant Inborn genetic diseases [RCV003217582] Chr16:56870636 [GRCh38]
Chr16:56904548 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1666C>T (p.Pro556Ser) single nucleotide variant not provided [RCV003225271] Chr16:56882494 [GRCh38]
Chr16:56916406 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.751del (p.Ala251fs) deletion Familial hypokalemia-hypomagnesemia [RCV003134019]|not provided [RCV003669354] Chr16:56870632 [GRCh38]
Chr16:56904544 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
NM_001126108.2(SLC12A3):c.1160T>C (p.Leu387Pro) single nucleotide variant not specified [RCV003324352] Chr16:56878141 [GRCh38]
Chr16:56912053 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.509T>A (p.Leu170Gln) single nucleotide variant not specified [RCV003324351] Chr16:56869732 [GRCh38]
Chr16:56903644 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1067C>T (p.Ala356Val) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV003322725]|SLC12A3-related condition [RCV003966315] Chr16:56872758 [GRCh38]
Chr16:56906670 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
NM_001126108.2(SLC12A3):c.2459C>G (p.Thr820Ser) single nucleotide variant Inborn genetic diseases [RCV003283715] Chr16:56892992 [GRCh38]
Chr16:56926904 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1136T>A (p.Ile379Asn) single nucleotide variant Inborn genetic diseases [RCV003264630] Chr16:56878117 [GRCh38]
Chr16:56912029 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1678_1679delinsGA (p.Pro560Asp) indel not provided [RCV003319695] Chr16:56884057..56884058 [GRCh38]
Chr16:56917969..56917970 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1837G>A (p.Gly613Ser) single nucleotide variant not provided [RCV003325719] Chr16:56885276 [GRCh38]
Chr16:56919188 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1394C>A (p.Thr465Asn) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV003337888] Chr16:56879600 [GRCh38]
Chr16:56913512 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1335+18G>A single nucleotide variant not provided [RCV003686265] Chr16:56879245 [GRCh38]
Chr16:56913157 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.823_824dup (p.Leu276fs) microsatellite not provided [RCV003569325] Chr16:56870704..56870705 [GRCh38]
Chr16:56904616..56904617 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.204G>A (p.Glu68=) single nucleotide variant not provided [RCV003569278] Chr16:56865439 [GRCh38]
Chr16:56899351 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2368+14C>T single nucleotide variant not provided [RCV003873144] Chr16:56890370 [GRCh38]
Chr16:56924282 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1000C>A (p.Arg334=) single nucleotide variant not provided [RCV003686462] Chr16:56872691 [GRCh38]
Chr16:56906603 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.711C>A (p.Gly237=) single nucleotide variant not provided [RCV003569571] Chr16:56870205 [GRCh38]
Chr16:56904117 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.853-7C>T single nucleotide variant not provided [RCV003569563] Chr16:56872344 [GRCh38]
Chr16:56906256 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2652C>T (p.Ser884=) single nucleotide variant not provided [RCV003570207] Chr16:56899548 [GRCh38]
Chr16:56933460 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.430-11del deletion not provided [RCV003873561] Chr16:56868286 [GRCh38]
Chr16:56902198 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2899T>A (p.Ser967Thr) single nucleotide variant not provided [RCV003543211] Chr16:56904437 [GRCh38]
Chr16:56938349 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.2721-12T>G single nucleotide variant not provided [RCV003875349] Chr16:56902361 [GRCh38]
Chr16:56936273 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.765C>T (p.Asp255=) single nucleotide variant not provided [RCV003875415] Chr16:56870649 [GRCh38]
Chr16:56904561 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2179-16C>T single nucleotide variant not provided [RCV003571326] Chr16:56887909 [GRCh38]
Chr16:56921821 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.853-19G>A single nucleotide variant not provided [RCV003874310] Chr16:56872332 [GRCh38]
Chr16:56906244 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2874del (p.Arg958fs) deletion not provided [RCV003570916] Chr16:56904411 [GRCh38]
Chr16:56938323 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1332C>G (p.Tyr444Ter) single nucleotide variant not provided [RCV003570606] Chr16:56879224 [GRCh38]
Chr16:56913136 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1444-9G>C single nucleotide variant not provided [RCV003570817] Chr16:56880121 [GRCh38]
Chr16:56914033 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.601+1G>C single nucleotide variant not provided [RCV003543069] Chr16:56869825 [GRCh38]
Chr16:56903737 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.2214G>A (p.Leu738=) single nucleotide variant not provided [RCV003569114] Chr16:56887960 [GRCh38]
Chr16:56921872 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2925-19A>C single nucleotide variant not provided [RCV003569012] Chr16:56913245 [GRCh38]
Chr16:56947157 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.781C>T (p.Arg261Cys) single nucleotide variant Inborn genetic diseases [RCV004364827]|not specified [RCV003479614] Chr16:56870665 [GRCh38]
Chr16:56904577 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.378del (p.Ser126fs) deletion Familial hypokalemia-hypomagnesemia [RCV003479792]|not provided [RCV003699117] Chr16:56867165 [GRCh38]
Chr16:56901077 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1569T>G (p.Ala523=) single nucleotide variant not provided [RCV003426712] Chr16:56882397 [GRCh38]
Chr16:56916309 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2902C>A (p.Arg968=) single nucleotide variant not provided [RCV003419339] Chr16:56904440 [GRCh38]
Chr16:56938352 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1782C>T (p.Gly594=) single nucleotide variant not provided [RCV003411357] Chr16:56884161 [GRCh38]
Chr16:56918073 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1670-1G>C single nucleotide variant SLC12A3-related condition [RCV003402963] Chr16:56884048 [GRCh38]
Chr16:56917960 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.1640G>T (p.Cys547Phe) single nucleotide variant SLC12A3-related condition [RCV003402189] Chr16:56882468 [GRCh38]
Chr16:56916380 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1443+1G>A single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV003388755] Chr16:56879650 [GRCh38]
Chr16:56913562 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.2522-18G>A single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV003441151] Chr16:56894513 [GRCh38]
Chr16:56928425 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.1180+11G>A single nucleotide variant not provided [RCV003740098] Chr16:56878172 [GRCh38]
Chr16:56912084 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1308C>T (p.Cys436=) single nucleotide variant not provided [RCV003689663] Chr16:56879200 [GRCh38]
Chr16:56913112 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1767C>T (p.Ala589=) single nucleotide variant not provided [RCV003879088] Chr16:56884146 [GRCh38]
Chr16:56918058 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1336-16C>A single nucleotide variant not provided [RCV003738980] Chr16:56879526 [GRCh38]
Chr16:56913438 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2419+13C>A single nucleotide variant not provided [RCV003544328] Chr16:56892146 [GRCh38]
Chr16:56926058 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1444-12C>T single nucleotide variant not provided [RCV003693101] Chr16:56880118 [GRCh38]
Chr16:56914030 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.741+9G>T single nucleotide variant not provided [RCV003694446] Chr16:56870244 [GRCh38]
Chr16:56904156 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2798T>C (p.Met933Thr) single nucleotide variant not provided [RCV003738981] Chr16:56902450 [GRCh38]
Chr16:56936362 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1236C>A (p.Gly412=) single nucleotide variant not provided [RCV003739201] Chr16:56879128 [GRCh38]
Chr16:56913040 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.255A>T (p.Thr85=) single nucleotide variant not provided [RCV003687111] Chr16:56865490 [GRCh38]
Chr16:56899402 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1335+20C>T single nucleotide variant not provided [RCV003577434] Chr16:56879247 [GRCh38]
Chr16:56913159 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2721-6C>G single nucleotide variant not provided [RCV003829677] Chr16:56902367 [GRCh38]
Chr16:56936279 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1632C>T (p.Asn544=) single nucleotide variant not provided [RCV003578917] Chr16:56882460 [GRCh38]
Chr16:56916372 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2292C>T (p.Ala764=) single nucleotide variant not provided [RCV003575715] Chr16:56890280 [GRCh38]
Chr16:56924192 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.185A>T (p.Asp62Val) single nucleotide variant not provided [RCV003694671] Chr16:56865420 [GRCh38]
Chr16:56899332 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.2369-8T>C single nucleotide variant not provided [RCV003692510] Chr16:56892075 [GRCh38]
Chr16:56925987 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2319C>A (p.Val773=) single nucleotide variant not provided [RCV003830057] Chr16:56890307 [GRCh38]
Chr16:56924219 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.430-3del deletion not provided [RCV003696075] Chr16:56868292 [GRCh38]
Chr16:56902204 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.198A>T (p.Thr66=) single nucleotide variant not provided [RCV003573222] Chr16:56865433 [GRCh38]
Chr16:56899345 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.444C>G (p.Leu148=) single nucleotide variant not provided [RCV003694919] Chr16:56868311 [GRCh38]
Chr16:56902223 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.741+14G>A single nucleotide variant not provided [RCV003882275] Chr16:56870249 [GRCh38]
Chr16:56904161 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2364G>C (p.Ala788=) single nucleotide variant not provided [RCV003578712] Chr16:56890352 [GRCh38]
Chr16:56924264 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2285+11G>A single nucleotide variant not provided [RCV003740043] Chr16:56888042 [GRCh38]
Chr16:56921954 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.813G>T (p.Leu271=) single nucleotide variant not provided [RCV003695119] Chr16:56870697 [GRCh38]
Chr16:56904609 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1218_1219del (p.Asn406fs) deletion not provided [RCV003576948] Chr16:56879110..56879111 [GRCh38]
Chr16:56913022..56913023 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.828G>A (p.Leu276=) single nucleotide variant not provided [RCV003694131] Chr16:56870712 [GRCh38]
Chr16:56904624 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1695C>T (p.Tyr565=) single nucleotide variant not provided [RCV003577980] Chr16:56884074 [GRCh38]
Chr16:56917986 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2420-17G>A single nucleotide variant not provided [RCV003739407] Chr16:56892936 [GRCh38]
Chr16:56926848 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2037+14G>A single nucleotide variant not provided [RCV003828724] Chr16:56886489 [GRCh38]
Chr16:56920401 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.741+10G>C single nucleotide variant not provided [RCV003578174] Chr16:56870245 [GRCh38]
Chr16:56904157 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1000C>G (p.Arg334Gly) single nucleotide variant not provided [RCV003544198] Chr16:56872691 [GRCh38]
Chr16:56906603 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.1848A>C (p.Val616=) single nucleotide variant not provided [RCV003714293] Chr16:56885287 [GRCh38]
Chr16:56919199 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1887G>A (p.Val629=) single nucleotide variant not provided [RCV003694304] Chr16:56885326 [GRCh38]
Chr16:56919238 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1335+15G>A single nucleotide variant not provided [RCV003544930] Chr16:56879242 [GRCh38]
Chr16:56913154 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.430-16C>G single nucleotide variant not provided [RCV003879548] Chr16:56868281 [GRCh38]
Chr16:56902193 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.390del (p.Glu131fs) deletion not provided [RCV003689685] Chr16:56867174 [GRCh38]
Chr16:56901086 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2924+15G>C single nucleotide variant not provided [RCV003695529] Chr16:56904477 [GRCh38]
Chr16:56938389 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2925-7C>T single nucleotide variant not provided [RCV003660601] Chr16:56913257 [GRCh38]
Chr16:56947169 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.645T>G (p.Leu215=) single nucleotide variant not provided [RCV003713935] Chr16:56870139 [GRCh38]
Chr16:56904051 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.505+8C>A single nucleotide variant not provided [RCV003716440] Chr16:56868380 [GRCh38]
Chr16:56902292 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.387C>T (p.Asn129=) single nucleotide variant not provided [RCV003715953] Chr16:56867174 [GRCh38]
Chr16:56901086 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.396G>A (p.Glu132=) single nucleotide variant not provided [RCV003715274] Chr16:56867183 [GRCh38]
Chr16:56901095 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.841_842insA (p.Trp281Ter) insertion not provided [RCV003689861] Chr16:56870725..56870726 [GRCh38]
Chr16:56904637..56904638 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1444-17G>C single nucleotide variant not provided [RCV003662908] Chr16:56880113 [GRCh38]
Chr16:56914025 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2178+1G>A single nucleotide variant not provided [RCV003692830] Chr16:56887094 [GRCh38]
Chr16:56921006 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.663C>T (p.Leu221=) single nucleotide variant not provided [RCV003714082] Chr16:56870157 [GRCh38]
Chr16:56904069 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.423G>A (p.Gly141=) single nucleotide variant not provided [RCV003825025] Chr16:56867210 [GRCh38]
Chr16:56901122 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1260C>G (p.Ala420=) single nucleotide variant not provided [RCV003695721] Chr16:56879152 [GRCh38]
Chr16:56913064 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.741+4A>G single nucleotide variant not provided [RCV003572752] Chr16:56870239 [GRCh38]
Chr16:56904151 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.505+14T>G single nucleotide variant not provided [RCV003738761] Chr16:56868386 [GRCh38]
Chr16:56902298 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1670-17T>C single nucleotide variant not provided [RCV003688729] Chr16:56884032 [GRCh38]
Chr16:56917944 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.714T>C (p.Phe238=) single nucleotide variant not provided [RCV003826997] Chr16:56870208 [GRCh38]
Chr16:56904120 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2127C>T (p.Tyr709=) single nucleotide variant not provided [RCV003689885] Chr16:56887042 [GRCh38]
Chr16:56920954 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2368+17C>A single nucleotide variant not provided [RCV003689325] Chr16:56890373 [GRCh38]
Chr16:56924285 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2979G>A (p.Trp993Ter) single nucleotide variant not provided [RCV003695502] Chr16:56913318 [GRCh38]
Chr16:56947230 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2710C>A (p.Arg904=) single nucleotide variant not provided [RCV003661716] Chr16:56899606 [GRCh38]
Chr16:56933518 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.601+14C>T single nucleotide variant not provided [RCV003663547] Chr16:56869838 [GRCh38]
Chr16:56903750 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1158C>T (p.Tyr386=) single nucleotide variant not provided [RCV003545354] Chr16:56878139 [GRCh38]
Chr16:56912051 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2633+2T>G single nucleotide variant not provided [RCV003572219] Chr16:56894644 [GRCh38]
Chr16:56928556 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.507C>A (p.Val169=) single nucleotide variant not provided [RCV003714310] Chr16:56869730 [GRCh38]
Chr16:56903642 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.558C>T (p.Gly186=) single nucleotide variant not provided [RCV003692756] Chr16:56869781 [GRCh38]
Chr16:56903693 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.723C>G (p.Thr241=) single nucleotide variant not provided [RCV003713209] Chr16:56870217 [GRCh38]
Chr16:56904129 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.508C>T (p.Leu170=) single nucleotide variant not provided [RCV003688152] Chr16:56869731 [GRCh38]
Chr16:56903643 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1232del (p.Pro411fs) deletion not provided [RCV003546247] Chr16:56879121 [GRCh38]
Chr16:56913033 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1825+1G>A single nucleotide variant not provided [RCV003689514] Chr16:56884205 [GRCh38]
Chr16:56918117 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.1096-6del deletion not provided [RCV003576912] Chr16:56878070 [GRCh38]
Chr16:56911982 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.741+20C>T single nucleotide variant not provided [RCV003738879] Chr16:56870255 [GRCh38]
Chr16:56904167 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.853-8C>T single nucleotide variant not provided [RCV003715214] Chr16:56872343 [GRCh38]
Chr16:56906255 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2857-18C>A single nucleotide variant not provided [RCV003575859] Chr16:56904377 [GRCh38]
Chr16:56938289 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2522-15G>T single nucleotide variant not provided [RCV003576929] Chr16:56894516 [GRCh38]
Chr16:56928428 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1669+11C>G single nucleotide variant not provided [RCV003694247] Chr16:56882508 [GRCh38]
Chr16:56916420 [GRCh37]
Chr16:16q13		 likely benign
NC_000016.10:g.56865169_56865258del deletion not provided [RCV003572213] Chr16:56865165..56865254 [GRCh38]
Chr16:56899077..56899166 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2369-1G>A single nucleotide variant not provided [RCV003689237] Chr16:56892082 [GRCh38]
Chr16:56925994 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.1180+7G>A single nucleotide variant not provided [RCV003695795] Chr16:56878168 [GRCh38]
Chr16:56912080 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.741+18G>C single nucleotide variant not provided [RCV003665977] Chr16:56870253 [GRCh38]
Chr16:56904165 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.741+14dup duplication not provided [RCV003693455] Chr16:56870243..56870244 [GRCh38]
Chr16:56904155..56904156 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.423G>T (p.Gly141=) single nucleotide variant not provided [RCV003661256] Chr16:56867210 [GRCh38]
Chr16:56901122 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.602-5G>A single nucleotide variant not provided [RCV003689684] Chr16:56870091 [GRCh38]
Chr16:56904003 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1195C>G (p.Arg399Gly) single nucleotide variant not provided [RCV003691625] Chr16:56879087 [GRCh38]
Chr16:56912999 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.1440C>T (p.Phe480=) single nucleotide variant not provided [RCV003713090] Chr16:56879646 [GRCh38]
Chr16:56913558 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.842G>A (p.Trp281Ter) single nucleotide variant not provided [RCV003573990] Chr16:56870726 [GRCh38]
Chr16:56904638 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1096-21_1096-6del deletion not provided [RCV003880954] Chr16:56878044..56878059 [GRCh38]
Chr16:56911956..56911971 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2856+13G>T single nucleotide variant not provided [RCV003715878] Chr16:56902521 [GRCh38]
Chr16:56936433 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.342_343dup (p.Asp115fs) duplication not provided [RCV003690012] Chr16:56867128..56867129 [GRCh38]
Chr16:56901040..56901041 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1164C>A (p.Ala388=) single nucleotide variant not provided [RCV003693553] Chr16:56878145 [GRCh38]
Chr16:56912057 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.964+20C>T single nucleotide variant not provided [RCV003544427] Chr16:56872482 [GRCh38]
Chr16:56906394 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1825+9C>T single nucleotide variant not provided [RCV003547408] Chr16:56884213 [GRCh38]
Chr16:56918125 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1670-4C>G single nucleotide variant not provided [RCV003692025] Chr16:56884045 [GRCh38]
Chr16:56917957 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2368+8C>T single nucleotide variant not provided [RCV003716062] Chr16:56890364 [GRCh38]
Chr16:56924276 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.312C>G (p.Ala104=) single nucleotide variant not provided [RCV003712711] Chr16:56867099 [GRCh38]
Chr16:56901011 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2720+11T>A single nucleotide variant not provided [RCV003712737] Chr16:56899627 [GRCh38]
Chr16:56933539 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2682C>T (p.His894=) single nucleotide variant not provided [RCV003712905] Chr16:56899578 [GRCh38]
Chr16:56933490 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.444C>T (p.Leu148=) single nucleotide variant not provided [RCV003714283] Chr16:56868311 [GRCh38]
Chr16:56902223 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1936C>T (p.Leu646=) single nucleotide variant not provided [RCV003689498] Chr16:56886374 [GRCh38]
Chr16:56920286 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2577C>A (p.Cys859Ter) single nucleotide variant not provided [RCV003714938] Chr16:56894586 [GRCh38]
Chr16:56928498 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.429+15G>A single nucleotide variant not provided [RCV003572327] Chr16:56867231 [GRCh38]
Chr16:56901143 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1568-4G>T single nucleotide variant not provided [RCV003661351] Chr16:56882392 [GRCh38]
Chr16:56916304 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1095+19C>G single nucleotide variant not provided [RCV003691634] Chr16:56872805 [GRCh38]
Chr16:56906717 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2811C>A (p.Cys937Ter) single nucleotide variant not provided [RCV003572397] Chr16:56902463 [GRCh38]
Chr16:56936375 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1995C>T (p.Phe665=) single nucleotide variant not provided [RCV003549781] Chr16:56886433 [GRCh38]
Chr16:56920345 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.853-18G>A single nucleotide variant not provided [RCV003697767] Chr16:56872333 [GRCh38]
Chr16:56906245 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.798C>G (p.Val266=) single nucleotide variant not provided [RCV003549903] Chr16:56870682 [GRCh38]
Chr16:56904594 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1890C>G (p.Gly630=) single nucleotide variant not provided [RCV003716802] Chr16:56885329 [GRCh38]
Chr16:56919241 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1096-17CTCC[4] microsatellite not provided [RCV003740439] Chr16:56878059..56878060 [GRCh38]
Chr16:56911971..56911972 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.853-18G>T single nucleotide variant not provided [RCV003716999] Chr16:56872333 [GRCh38]
Chr16:56906245 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.720G>A (p.Glu240=) single nucleotide variant not provided [RCV003696926] Chr16:56870214 [GRCh38]
Chr16:56904126 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.871del (p.Val292fs) deletion not provided [RCV003849555] Chr16:56872368 [GRCh38]
Chr16:56906280 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2420-17G>C single nucleotide variant not provided [RCV003697979] Chr16:56892936 [GRCh38]
Chr16:56926848 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1672T>C (p.Trp558Arg) single nucleotide variant not provided [RCV003665649] Chr16:56884051 [GRCh38]
Chr16:56917963 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.506-11G>T single nucleotide variant not provided [RCV003579927] Chr16:56869718 [GRCh38]
Chr16:56903630 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1527C>T (p.Tyr509=) single nucleotide variant not provided [RCV003832506] Chr16:56880213 [GRCh38]
Chr16:56914125 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2178+14G>C single nucleotide variant not provided [RCV003666369] Chr16:56887107 [GRCh38]
Chr16:56921019 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2924+10G>A single nucleotide variant not provided [RCV003670398] Chr16:56904472 [GRCh38]
Chr16:56938384 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1212C>G (p.Val404=) single nucleotide variant not provided [RCV003664921] Chr16:56879104 [GRCh38]
Chr16:56913016 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1045C>T (p.Pro349Ser) single nucleotide variant not provided [RCV003562049] Chr16:56872736 [GRCh38]
Chr16:56906648 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2721-6C>A single nucleotide variant not provided [RCV003670435] Chr16:56902367 [GRCh38]
Chr16:56936279 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.853-1G>A single nucleotide variant not provided [RCV003559912] Chr16:56872350 [GRCh38]
Chr16:56906262 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2545C>T (p.Leu849Phe) single nucleotide variant not provided [RCV003559919] Chr16:56894554 [GRCh38]
Chr16:56928466 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.2076C>A (p.Ile692=) single nucleotide variant not provided [RCV003850027] Chr16:56886991 [GRCh38]
Chr16:56920903 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2286-16C>T single nucleotide variant not provided [RCV003549178] Chr16:56890258 [GRCh38]
Chr16:56924170 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1669+11C>A single nucleotide variant not provided [RCV003832112] Chr16:56882508 [GRCh38]
Chr16:56916420 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2420-20C>T single nucleotide variant not provided [RCV003579807] Chr16:56892933 [GRCh38]
Chr16:56926845 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1072del (p.Ala358fs) deletion not provided [RCV003665647] Chr16:56872760 [GRCh38]
Chr16:56906672 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2814del (p.Trp939fs) deletion Familial hypokalemia-hypomagnesemia [RCV003994921] Chr16:56902463 [GRCh38]
Chr16:56936375 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2938G>T (p.Gly980Trp) single nucleotide variant not provided [RCV003665651] Chr16:56913277 [GRCh38]
Chr16:56947189 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.1815C>T (p.Tyr605=) single nucleotide variant not provided [RCV003726714] Chr16:56884194 [GRCh38]
Chr16:56918106 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1825+15T>C single nucleotide variant not provided [RCV003672705] Chr16:56884219 [GRCh38]
Chr16:56918131 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2394G>A (p.Glu798=) single nucleotide variant not provided [RCV003726732] Chr16:56892108 [GRCh38]
Chr16:56926020 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.403C>G (p.Arg135Gly) single nucleotide variant not provided [RCV003725263] Chr16:56867190 [GRCh38]
Chr16:56901102 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.1926-13C>T single nucleotide variant not provided [RCV003672905] Chr16:56886351 [GRCh38]
Chr16:56920263 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.742-15A>G single nucleotide variant not provided [RCV003674111] Chr16:56870611 [GRCh38]
Chr16:56904523 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.3043G>A (p.Val1015Met) single nucleotide variant not provided [RCV003561846] Chr16:56913382 [GRCh38]
Chr16:56947294 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.2478G>A (p.Gln826=) single nucleotide variant not provided [RCV003839914] Chr16:56893011 [GRCh38]
Chr16:56926923 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1581C>T (p.Thr527=) single nucleotide variant not provided [RCV003702477] Chr16:56882409 [GRCh38]
Chr16:56916321 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1256del (p.Leu419fs) deletion not provided [RCV003561413] Chr16:56879148 [GRCh38]
Chr16:56913060 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2756G>A (p.Arg919His) single nucleotide variant not provided [RCV003726440] Chr16:56902408 [GRCh38]
Chr16:56936320 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.505+13C>G single nucleotide variant not provided [RCV003700668] Chr16:56868385 [GRCh38]
Chr16:56902297 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2857-12T>C single nucleotide variant not provided [RCV003724127] Chr16:56904383 [GRCh38]
Chr16:56938295 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.601+13C>G single nucleotide variant not provided [RCV003671785] Chr16:56869837 [GRCh38]
Chr16:56903749 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2790C>A (p.Val930=) single nucleotide variant not provided [RCV003701726] Chr16:56902442 [GRCh38]
Chr16:56936354 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1755C>G (p.Thr585=) single nucleotide variant not provided [RCV003560474] Chr16:56884134 [GRCh38]
Chr16:56918046 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2805G>A (p.Arg935=) single nucleotide variant not provided [RCV003702552] Chr16:56902457 [GRCh38]
Chr16:56936369 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2142C>G (p.Ala714=) single nucleotide variant not provided [RCV003700118] Chr16:56887057 [GRCh38]
Chr16:56920969 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2562G>A (p.Arg854=) single nucleotide variant not provided [RCV003723801] Chr16:56894571 [GRCh38]
Chr16:56928483 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2924+8G>A single nucleotide variant not provided [RCV003663789] Chr16:56904470 [GRCh38]
Chr16:56938382 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1825+18_1825+28del deletion not provided [RCV003664658] Chr16:56884220..56884230 [GRCh38]
Chr16:56918132..56918142 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.602-19C>G single nucleotide variant not provided [RCV003725629] Chr16:56870077 [GRCh38]
Chr16:56903989 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2720+10G>C single nucleotide variant not provided [RCV003560558] Chr16:56899626 [GRCh38]
Chr16:56933538 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1669+19C>A single nucleotide variant not provided [RCV003703123] Chr16:56882516 [GRCh38]
Chr16:56916428 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.429+16G>A single nucleotide variant not provided [RCV003725865] Chr16:56867232 [GRCh38]
Chr16:56901144 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.283-16del deletion not provided [RCV003560183] Chr16:56867053 [GRCh38]
Chr16:56900965 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2633+8T>C single nucleotide variant not provided [RCV003665053] Chr16:56894650 [GRCh38]
Chr16:56928562 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2460C>T (p.Thr820=) single nucleotide variant not provided [RCV003839568] Chr16:56892993 [GRCh38]
Chr16:56926905 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1669+12C>T single nucleotide variant not provided [RCV003855758] Chr16:56882509 [GRCh38]
Chr16:56916421 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.964+14A>G single nucleotide variant not provided [RCV003726057] Chr16:56872476 [GRCh38]
Chr16:56906388 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1062C>T (p.Ile354=) single nucleotide variant not provided [RCV003836938] Chr16:56872753 [GRCh38]
Chr16:56906665 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2193G>A (p.Gly731=) single nucleotide variant not provided [RCV003668238] Chr16:56887939 [GRCh38]
Chr16:56921851 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2420-18C>A single nucleotide variant not provided [RCV003669745] Chr16:56892935 [GRCh38]
Chr16:56926847 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1503G>A (p.Lys501=) single nucleotide variant not provided [RCV003840049] Chr16:56880189 [GRCh38]
Chr16:56914101 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.506-2A>G single nucleotide variant not provided [RCV003559908] Chr16:56869727 [GRCh38]
Chr16:56903639 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.587G>T (p.Gly196Val) single nucleotide variant not provided [RCV003559910] Chr16:56869810 [GRCh38]
Chr16:56903722 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2204C>G (p.Pro735Arg) single nucleotide variant not provided [RCV003559917] Chr16:56887950 [GRCh38]
Chr16:56921862 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.2979del (p.Trp993fs) deletion not provided [RCV003559920] Chr16:56913317 [GRCh38]
Chr16:56947229 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.528G>T (p.Leu176=) single nucleotide variant not provided [RCV003854577] Chr16:56869751 [GRCh38]
Chr16:56903663 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2925-18C>T single nucleotide variant not provided [RCV003850392] Chr16:56913246 [GRCh38]
Chr16:56947158 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.855C>T (p.Ala285=) single nucleotide variant not provided [RCV003698735] Chr16:56872353 [GRCh38]
Chr16:56906265 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2448G>A (p.Glu816=) single nucleotide variant not provided [RCV003558109] Chr16:56892981 [GRCh38]
Chr16:56926893 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1335+13G>C single nucleotide variant not provided [RCV003701640] Chr16:56879240 [GRCh38]
Chr16:56913152 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1096-16T>G single nucleotide variant not provided [RCV003724488] Chr16:56878061 [GRCh38]
Chr16:56911973 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1096-11C>G single nucleotide variant not provided [RCV003560173] Chr16:56878066 [GRCh38]
Chr16:56911978 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2925-9G>A single nucleotide variant not provided [RCV003723293] Chr16:56913255 [GRCh38]
Chr16:56947167 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1926-20C>G single nucleotide variant not provided [RCV003723205] Chr16:56886344 [GRCh38]
Chr16:56920256 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.742-10C>T single nucleotide variant not provided [RCV003672553] Chr16:56870616 [GRCh38]
Chr16:56904528 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1989C>A (p.Gly663=) single nucleotide variant not provided [RCV003701836] Chr16:56886427 [GRCh38]
Chr16:56920339 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2724C>G (p.Thr908=) single nucleotide variant not provided [RCV003560616] Chr16:56902376 [GRCh38]
Chr16:56936288 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.906G>T (p.Val302=) single nucleotide variant not provided [RCV003699769] Chr16:56872404 [GRCh38]
Chr16:56906316 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.615C>T (p.Phe205=) single nucleotide variant not provided [RCV003581049] Chr16:56870109 [GRCh38]
Chr16:56904021 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1567+15G>C single nucleotide variant not provided [RCV003725442] Chr16:56880268 [GRCh38]
Chr16:56914180 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.261T>C (p.Ala87=) single nucleotide variant not provided [RCV003831858] Chr16:56865496 [GRCh38]
Chr16:56899408 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2924+7_2924+9del microsatellite not provided [RCV003698727] Chr16:56904466..56904468 [GRCh38]
Chr16:56938378..56938380 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2634-18C>A single nucleotide variant not provided [RCV003851112] Chr16:56899512 [GRCh38]
Chr16:56933424 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.536T>A (p.Val179Asp) single nucleotide variant not provided [RCV003559909] Chr16:56869759 [GRCh38]
Chr16:56903671 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1289G>A (p.Cys430Tyr) single nucleotide variant not provided [RCV003559915] Chr16:56879181 [GRCh38]
Chr16:56913093 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.741+13G>A single nucleotide variant not provided [RCV003725439] Chr16:56870248 [GRCh38]
Chr16:56904160 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2368+20del deletion not provided [RCV003560562] Chr16:56890376 [GRCh38]
Chr16:56924288 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.647G>A (p.Gly216Glu) single nucleotide variant not provided [RCV003559911] Chr16:56870141 [GRCh38]
Chr16:56904053 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.1024G>T (p.Gly342Ter) single nucleotide variant not provided [RCV003559913] Chr16:56872715 [GRCh38]
Chr16:56906627 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1670-1G>T single nucleotide variant not provided [RCV003559916] Chr16:56884048 [GRCh38]
Chr16:56917960 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.825C>G (p.Ser275=) single nucleotide variant not provided [RCV003579946] Chr16:56870709 [GRCh38]
Chr16:56904621 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.957C>T (p.Ser319=) single nucleotide variant not provided [RCV003558171] Chr16:56872455 [GRCh38]
Chr16:56906367 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2720+10G>A single nucleotide variant not provided [RCV003834365] Chr16:56899626 [GRCh38]
Chr16:56933538 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2633+2T>A single nucleotide variant not provided [RCV003558301] Chr16:56894644 [GRCh38]
Chr16:56928556 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2244G>T (p.Ser748=) single nucleotide variant not provided [RCV003701111] Chr16:56887990 [GRCh38]
Chr16:56921902 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2856+15G>C single nucleotide variant not provided [RCV003724825] Chr16:56902523 [GRCh38]
Chr16:56936435 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1703G>A (p.Trp568Ter) single nucleotide variant not provided [RCV003723891] Chr16:56884082 [GRCh38]
Chr16:56917994 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1869G>A (p.Leu623=) single nucleotide variant not provided [RCV003725306] Chr16:56885308 [GRCh38]
Chr16:56919220 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2521+17G>A single nucleotide variant not provided [RCV003665032] Chr16:56893071 [GRCh38]
Chr16:56926983 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2856+11G>T single nucleotide variant not provided [RCV003560340] Chr16:56902519 [GRCh38]
Chr16:56936431 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1670-20G>T single nucleotide variant not provided [RCV003675275] Chr16:56884029 [GRCh38]
Chr16:56917941 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.933del (p.Asp311fs) deletion not provided [RCV003551964] Chr16:56872431 [GRCh38]
Chr16:56906343 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2802G>A (p.Arg934=) single nucleotide variant not provided [RCV003708352] Chr16:56902454 [GRCh38]
Chr16:56936366 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1477G>A (p.Gly493Ser) single nucleotide variant not provided [RCV003732532] Chr16:56880163 [GRCh38]
Chr16:56914075 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1180+13C>T single nucleotide variant not provided [RCV003732516] Chr16:56878174 [GRCh38]
Chr16:56912086 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.723del (p.Val242fs) deletion not provided [RCV003567925] Chr16:56870216 [GRCh38]
Chr16:56904128 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2521+253C>A single nucleotide variant not provided [RCV003728742] Chr16:56893307 [GRCh38]
Chr16:56927219 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2925-19A>G single nucleotide variant not provided [RCV003563283] Chr16:56913245 [GRCh38]
Chr16:56947157 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1173C>T (p.Ala391=) single nucleotide variant not provided [RCV003562184] Chr16:56878154 [GRCh38]
Chr16:56912066 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2964G>C (p.Ser988=) single nucleotide variant not provided [RCV003567882] Chr16:56913303 [GRCh38]
Chr16:56947215 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2037+11C>T single nucleotide variant not provided [RCV003733840] Chr16:56886486 [GRCh38]
Chr16:56920398 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1380C>T (p.Gly460=) single nucleotide variant not provided [RCV003682100] Chr16:56879586 [GRCh38]
Chr16:56913498 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.750G>A (p.Gly250=) single nucleotide variant not provided [RCV003676289] Chr16:56870634 [GRCh38]
Chr16:56904546 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.283-19G>T single nucleotide variant not provided [RCV003562334] Chr16:56867051 [GRCh38]
Chr16:56900963 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2419+42T>C single nucleotide variant not provided [RCV003864172] Chr16:56892175 [GRCh38]
Chr16:56926087 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2449C>T (p.Gln817Ter) single nucleotide variant not provided [RCV003864179] Chr16:56892982 [GRCh38]
Chr16:56926894 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1071G>A (p.Gly357=) single nucleotide variant not provided [RCV003821272] Chr16:56872762 [GRCh38]
Chr16:56906674 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1619_1625del (p.Tyr540fs) deletion not provided [RCV003554521] Chr16:56882444..56882450 [GRCh38]
Chr16:56916356..56916362 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2739C>T (p.Asp913=) single nucleotide variant not provided [RCV003865191] Chr16:56902391 [GRCh38]
Chr16:56936303 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.502_505+3delinsT indel not provided [RCV003712135] Chr16:56868369..56868375 [GRCh38]
Chr16:56902281..56902287 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.2955C>A (p.Cys985Ter) single nucleotide variant not provided [RCV003842757] Chr16:56913294 [GRCh38]
Chr16:56947206 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1336-7C>T single nucleotide variant not provided [RCV003554523] Chr16:56879535 [GRCh38]
Chr16:56913447 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.853-11G>A single nucleotide variant not provided [RCV003734871] Chr16:56872340 [GRCh38]
Chr16:56906252 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1825+17C>T single nucleotide variant not provided [RCV003735901] Chr16:56884221 [GRCh38]
Chr16:56918133 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1096-18T>C single nucleotide variant not provided [RCV003735834] Chr16:56878059 [GRCh38]
Chr16:56911971 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2352G>A (p.Lys784=) single nucleotide variant not provided [RCV003727490] Chr16:56890340 [GRCh38]
Chr16:56924252 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.506-19C>A single nucleotide variant not provided [RCV003704441] Chr16:56869710 [GRCh38]
Chr16:56903622 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2634-7C>T single nucleotide variant not provided [RCV003676451] Chr16:56899523 [GRCh38]
Chr16:56933435 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.601+18C>T single nucleotide variant not provided [RCV003676452] Chr16:56869842 [GRCh38]
Chr16:56903754 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1926-8C>T single nucleotide variant not provided [RCV003858898] Chr16:56886356 [GRCh38]
Chr16:56920268 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.853-4C>A single nucleotide variant not provided [RCV003704780] Chr16:56872347 [GRCh38]
Chr16:56906259 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1929C>T (p.Pro643=) single nucleotide variant not provided [RCV003707398] Chr16:56886367 [GRCh38]
Chr16:56920279 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2025C>A (p.Gly675=) single nucleotide variant not provided [RCV003563714] Chr16:56886463 [GRCh38]
Chr16:56920375 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.945del (p.Gly316fs) deletion not provided [RCV003821229] Chr16:56872441 [GRCh38]
Chr16:56906353 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1444-18C>A single nucleotide variant not provided [RCV003736135] Chr16:56880112 [GRCh38]
Chr16:56914024 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1839C>A (p.Gly613=) single nucleotide variant not provided [RCV003564558] Chr16:56885278 [GRCh38]
Chr16:56919190 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.965-17dup duplication not provided [RCV003562675] Chr16:56872638..56872639 [GRCh38]
Chr16:56906550..56906551 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1825+17C>G single nucleotide variant not provided [RCV003731730] Chr16:56884221 [GRCh38]
Chr16:56918133 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1200T>C (p.Asp400=) single nucleotide variant not provided [RCV003683400] Chr16:56879092 [GRCh38]
Chr16:56913004 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2472G>A (p.Ser824=) single nucleotide variant not provided [RCV003729174] Chr16:56893005 [GRCh38]
Chr16:56926917 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2037+11C>G single nucleotide variant not provided [RCV003819914] Chr16:56886486 [GRCh38]
Chr16:56920398 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2130G>A (p.Ser710=) single nucleotide variant not provided [RCV003555641] Chr16:56887045 [GRCh38]
Chr16:56920957 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2179-17C>A single nucleotide variant not provided [RCV003732021] Chr16:56887908 [GRCh38]
Chr16:56921820 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.283-11T>G single nucleotide variant not provided [RCV003735676] Chr16:56867059 [GRCh38]
Chr16:56900971 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1086T>C (p.Gly362=) single nucleotide variant not provided [RCV003729390] Chr16:56872777 [GRCh38]
Chr16:56906689 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.852+18G>T single nucleotide variant not provided [RCV003681701] Chr16:56870754 [GRCh38]
Chr16:56904666 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2864G>C (p.Arg955Pro) single nucleotide variant not provided [RCV003679658] Chr16:56904402 [GRCh38]
Chr16:56938314 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.2178+13G>C single nucleotide variant not provided [RCV003820792] Chr16:56887106 [GRCh38]
Chr16:56921018 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2595A>G (p.Val865=) single nucleotide variant not provided [RCV003563219] Chr16:56894604 [GRCh38]
Chr16:56928516 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2802G>C (p.Arg934=) single nucleotide variant not provided [RCV003553281] Chr16:56902454 [GRCh38]
Chr16:56936366 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2856+12G>A single nucleotide variant not provided [RCV003734775] Chr16:56902520 [GRCh38]
Chr16:56936432 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1925+14C>T single nucleotide variant not provided [RCV003734883] Chr16:56885378 [GRCh38]
Chr16:56919290 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.742-13T>A single nucleotide variant not provided [RCV003869360] Chr16:56870613 [GRCh38]
Chr16:56904525 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.165C>A (p.Thr55=) single nucleotide variant not provided [RCV003685339] Chr16:56865400 [GRCh38]
Chr16:56899312 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.282+20A>T single nucleotide variant not provided [RCV003720525] Chr16:56865537 [GRCh38]
Chr16:56899449 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2420-17G>T single nucleotide variant not provided [RCV003720526] Chr16:56892936 [GRCh38]
Chr16:56926848 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.964+20C>A single nucleotide variant not provided [RCV003670660] Chr16:56872482 [GRCh38]
Chr16:56906394 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1335+12A>C single nucleotide variant not provided [RCV003678633] Chr16:56879239 [GRCh38]
Chr16:56913151 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1374G>A (p.Thr458=) single nucleotide variant not provided [RCV003735034] Chr16:56879580 [GRCh38]
Chr16:56913492 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2857-17G>C single nucleotide variant not provided [RCV003551924] Chr16:56904378 [GRCh38]
Chr16:56938290 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2521+10C>A single nucleotide variant not provided [RCV003678744] Chr16:56893064 [GRCh38]
Chr16:56926976 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1568-11G>T single nucleotide variant not provided [RCV003708083] Chr16:56882385 [GRCh38]
Chr16:56916297 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.429+19G>A single nucleotide variant not provided [RCV003737031] Chr16:56867235 [GRCh38]
Chr16:56901147 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2978G>A (p.Trp993Ter) single nucleotide variant not provided [RCV003683873] Chr16:56913317 [GRCh38]
Chr16:56947229 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2038-17G>T single nucleotide variant not provided [RCV003728468] Chr16:56886936 [GRCh38]
Chr16:56920848 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2178+17G>T single nucleotide variant not provided [RCV003735620] Chr16:56887110 [GRCh38]
Chr16:56921022 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2685C>A (p.Ile895=) single nucleotide variant not provided [RCV003676096] Chr16:56899581 [GRCh38]
Chr16:56933493 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2598_2599delinsTA (p.Gly867Ser) indel not provided [RCV003819762] Chr16:56894607..56894608 [GRCh38]
Chr16:56928519..56928520 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.1926-2_1929dup duplication not provided [RCV003737939] Chr16:56886360..56886361 [GRCh38]
Chr16:56920272..56920273 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1749C>T (p.Leu583=) single nucleotide variant not provided [RCV003684152] Chr16:56884128 [GRCh38]
Chr16:56918040 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2595del (p.Gly866fs) deletion not provided [RCV003705463] Chr16:56894604 [GRCh38]
Chr16:56928516 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.852+19A>T single nucleotide variant not provided [RCV003858516] Chr16:56870755 [GRCh38]
Chr16:56904667 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1180+19C>T single nucleotide variant not provided [RCV003735942] Chr16:56878180 [GRCh38]
Chr16:56912092 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2179-13del deletion not provided [RCV003737551] Chr16:56887912 [GRCh38]
Chr16:56921824 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.852+20G>C single nucleotide variant not provided [RCV003720183] Chr16:56870756 [GRCh38]
Chr16:56904668 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1245C>T (p.Ala415=) single nucleotide variant not provided [RCV003858937] Chr16:56879137 [GRCh38]
Chr16:56913049 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2420-12C>T single nucleotide variant not provided [RCV003564266] Chr16:56892941 [GRCh38]
Chr16:56926853 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.741+19A>G single nucleotide variant not provided [RCV003567416] Chr16:56870254 [GRCh38]
Chr16:56904166 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2037+20G>T single nucleotide variant not provided [RCV003736233] Chr16:56886495 [GRCh38]
Chr16:56920407 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2178+14G>A single nucleotide variant not provided [RCV003553068] Chr16:56887107 [GRCh38]
Chr16:56921019 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.601+12C>T single nucleotide variant not provided [RCV003721716] Chr16:56869836 [GRCh38]
Chr16:56903748 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2030T>G (p.Val677Gly) single nucleotide variant not provided [RCV003718902] Chr16:56886468 [GRCh38]
Chr16:56920380 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.2830GAG[1] (p.Glu945del) microsatellite not provided [RCV003841504] Chr16:56902482..56902484 [GRCh38]
Chr16:56936394..56936396 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.283-9G>C single nucleotide variant not provided [RCV003555241] Chr16:56867061 [GRCh38]
Chr16:56900973 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.964G>T (p.Ala322Ser) single nucleotide variant not provided [RCV003557193] Chr16:56872462 [GRCh38]
Chr16:56906374 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2136C>T (p.Val712=) single nucleotide variant not provided [RCV003718823] Chr16:56887051 [GRCh38]
Chr16:56920963 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2420-15C>T single nucleotide variant not provided [RCV003732519] Chr16:56892938 [GRCh38]
Chr16:56926850 [GRCh37]
Chr16:16q13		 likely benign
GRCh37/hg19 16q12.2-22.1(chr16:55329260-67180113)x1 copy number loss not specified [RCV003987196] Chr16:55329260..67180113 [GRCh37]
Chr16:16q12.2-22.1		 pathogenic
NM_001126108.2(SLC12A3):c.2037+7G>A single nucleotide variant not provided [RCV003704604] Chr16:56886482 [GRCh38]
Chr16:56920394 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.531G>T (p.Leu177=) single nucleotide variant not provided [RCV003542119] Chr16:56869754 [GRCh38]
Chr16:56903666 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1568-6C>T single nucleotide variant not provided [RCV003686059] Chr16:56882390 [GRCh38]
Chr16:56916302 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2038-15C>A single nucleotide variant not provided [RCV003555388] Chr16:56886938 [GRCh38]
Chr16:56920850 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.696C>T (p.Ala232=) single nucleotide variant not provided [RCV003719034] Chr16:56870190 [GRCh38]
Chr16:56904102 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1798C>T (p.Leu600=) single nucleotide variant not provided [RCV003868467] Chr16:56884177 [GRCh38]
Chr16:56918089 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1956C>T (p.Pro652=) single nucleotide variant not provided [RCV003686151] Chr16:56886394 [GRCh38]
Chr16:56920306 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.430-19_430-4dup duplication not provided [RCV003858057] Chr16:56868277..56868278 [GRCh38]
Chr16:56902189..56902190 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.3063dup (p.Ter1022ValextTer?) duplication not provided [RCV003564729] Chr16:56913401..56913402 [GRCh38]
Chr16:56947313..56947314 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1443+8C>A single nucleotide variant not provided [RCV003865317] Chr16:56879657 [GRCh38]
Chr16:56913569 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.852+18G>A single nucleotide variant not provided [RCV003869668] Chr16:56870754 [GRCh38]
Chr16:56904666 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2419+40A>G single nucleotide variant not provided [RCV003846985] Chr16:56892173 [GRCh38]
Chr16:56926085 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2814C>G (p.Pro938=) single nucleotide variant not provided [RCV003719254] Chr16:56902466 [GRCh38]
Chr16:56936378 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1826-15C>T single nucleotide variant not provided [RCV003738018] Chr16:56885250 [GRCh38]
Chr16:56919162 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2038-19C>T single nucleotide variant not provided [RCV003819511] Chr16:56886934 [GRCh38]
Chr16:56920846 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1587C>T (p.Ala529=) single nucleotide variant not provided [RCV003542744] Chr16:56882415 [GRCh38]
Chr16:56916327 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2925-11A>G single nucleotide variant not provided [RCV003737427] Chr16:56913253 [GRCh38]
Chr16:56947165 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.505+3G>T single nucleotide variant not provided [RCV003737449] Chr16:56868375 [GRCh38]
Chr16:56902287 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1181-13T>C single nucleotide variant not provided [RCV003562433] Chr16:56879060 [GRCh38]
Chr16:56912972 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2634-13A>G single nucleotide variant not provided [RCV003737512] Chr16:56899517 [GRCh38]
Chr16:56933429 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1825+18G>A single nucleotide variant not provided [RCV003738566] Chr16:56884222 [GRCh38]
Chr16:56918134 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.741+12G>T single nucleotide variant not provided [RCV003706707] Chr16:56870247 [GRCh38]
Chr16:56904159 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1670-18C>G single nucleotide variant not provided [RCV003728623] Chr16:56884031 [GRCh38]
Chr16:56917943 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1758G>A (p.Trp586Ter) single nucleotide variant not provided [RCV003712266] Chr16:56884137 [GRCh38]
Chr16:56918049 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.853-16C>T single nucleotide variant not provided [RCV003733863] Chr16:56872335 [GRCh38]
Chr16:56906247 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2660G>C (p.Arg887Pro) single nucleotide variant not provided [RCV003733895] Chr16:56899556 [GRCh38]
Chr16:56933468 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.1410G>A (p.Leu470=) single nucleotide variant not provided [RCV003685567] Chr16:56879616 [GRCh38]
Chr16:56913528 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2634-19C>A single nucleotide variant not provided [RCV003870784] Chr16:56899511 [GRCh38]
Chr16:56933423 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1181-19C>T single nucleotide variant not provided [RCV003864540] Chr16:56879054 [GRCh38]
Chr16:56912966 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1180+17G>C single nucleotide variant not provided [RCV003866653] Chr16:56878178 [GRCh38]
Chr16:56912090 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1095+1G>C single nucleotide variant not provided [RCV003867818] Chr16:56872787 [GRCh38]
Chr16:56906699 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.505+13C>T single nucleotide variant not provided [RCV003722448] Chr16:56868385 [GRCh38]
Chr16:56902297 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1443+19G>A single nucleotide variant not provided [RCV003704712] Chr16:56879668 [GRCh38]
Chr16:56913580 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1180+17G>A single nucleotide variant not provided [RCV003731613] Chr16:56878178 [GRCh38]
Chr16:56912090 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2615_2633dup (p.Ile879fs) duplication not provided [RCV003681007] Chr16:56894623..56894624 [GRCh38]
Chr16:56928535..56928536 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.1110C>A (p.Ala370=) single nucleotide variant not provided [RCV003564298] Chr16:56878091 [GRCh38]
Chr16:56912003 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1473G>T (p.Leu491=) single nucleotide variant not provided [RCV003568755] Chr16:56880159 [GRCh38]
Chr16:56914071 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1096-15C>T single nucleotide variant not provided [RCV003704664] Chr16:56878062 [GRCh38]
Chr16:56911974 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.964+20del deletion not provided [RCV003555477] Chr16:56872480 [GRCh38]
Chr16:56906392 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2420-18C>T single nucleotide variant not provided [RCV003555545] Chr16:56892935 [GRCh38]
Chr16:56926847 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.283-17_283-15del deletion not provided [RCV003847301] Chr16:56867051..56867053 [GRCh38]
Chr16:56900963..56900965 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2818A>T (p.Lys940Ter) single nucleotide variant not provided [RCV003865714] Chr16:56902470 [GRCh38]
Chr16:56936382 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2721-16A>G single nucleotide variant not provided [RCV003733636] Chr16:56902357 [GRCh38]
Chr16:56936269 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2856+17G>C single nucleotide variant not provided [RCV003711372] Chr16:56902525 [GRCh38]
Chr16:56936437 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.676G>T (p.Ala226Ser) single nucleotide variant not provided [RCV003563353] Chr16:56870170 [GRCh38]
Chr16:56904082 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.2688C>G (p.Leu896=) single nucleotide variant not provided [RCV003707591] Chr16:56899584 [GRCh38]
Chr16:56933496 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.282+16G>A single nucleotide variant not provided [RCV003732515] Chr16:56865533 [GRCh38]
Chr16:56899445 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2856+18G>A single nucleotide variant not provided [RCV003705028] Chr16:56902526 [GRCh38]
Chr16:56936438 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1096-17CTCC[5] microsatellite not provided [RCV003735711] Chr16:56878059..56878060 [GRCh38]
Chr16:56911971..56911972 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2925-13del deletion not provided [RCV003562429] Chr16:56913247 [GRCh38]
Chr16:56947159 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.1336-11A>T single nucleotide variant not provided [RCV003563667] Chr16:56879531 [GRCh38]
Chr16:56913443 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2720+14T>G single nucleotide variant not provided [RCV003729540] Chr16:56899630 [GRCh38]
Chr16:56933542 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1826-10G>C single nucleotide variant not provided [RCV003704042] Chr16:56885255 [GRCh38]
Chr16:56919167 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2952G>A (p.Lys984=) single nucleotide variant not provided [RCV003681414] Chr16:56913291 [GRCh38]
Chr16:56947203 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2368+9del deletion not provided [RCV003564890] Chr16:56890365 [GRCh38]
Chr16:56924277 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2091C>A (p.Thr697=) single nucleotide variant not provided [RCV003566511] Chr16:56887006 [GRCh38]
Chr16:56920918 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2924+14G>A single nucleotide variant not provided [RCV003562541] Chr16:56904476 [GRCh38]
Chr16:56938388 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2223_2224del (p.Phe742fs) deletion not provided [RCV003563564] Chr16:56887969..56887970 [GRCh38]
Chr16:56921881..56921882 [GRCh37]
Chr16:16q13		 pathogenic
NM_001126108.2(SLC12A3):c.2522-15del deletion not provided [RCV003712356] Chr16:56894513 [GRCh38]
Chr16:56928425 [GRCh37]
Chr16:16q13		 benign
NM_001126108.2(SLC12A3):c.2521+14T>G single nucleotide variant not provided [RCV003858365] Chr16:56893068 [GRCh38]
Chr16:56926980 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2369-18C>T single nucleotide variant not provided [RCV003820009] Chr16:56892065 [GRCh38]
Chr16:56925977 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.822C>A (p.Ile274=) single nucleotide variant not provided [RCV003728546] Chr16:56870706 [GRCh38]
Chr16:56904618 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2286-20C>T single nucleotide variant not provided [RCV003843799] Chr16:56890254 [GRCh38]
Chr16:56924166 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1809C>T (p.Val603=) single nucleotide variant not provided [RCV003675137] Chr16:56884188 [GRCh38]
Chr16:56918100 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.965-18C>A single nucleotide variant not provided [RCV003728704] Chr16:56872638 [GRCh38]
Chr16:56906550 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1444-20T>A single nucleotide variant not provided [RCV003857582] Chr16:56880110 [GRCh38]
Chr16:56914022 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1096-10C>T single nucleotide variant not provided [RCV003562923] Chr16:56878067 [GRCh38]
Chr16:56911979 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.2522-18G>T single nucleotide variant not provided [RCV003860420] Chr16:56894513 [GRCh38]
Chr16:56928425 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1669+12C>G single nucleotide variant not provided [RCV003823651] Chr16:56882509 [GRCh38]
Chr16:56916421 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1669+18C>T single nucleotide variant not provided [RCV003729118] Chr16:56882515 [GRCh38]
Chr16:56916427 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.336G>A (p.Glu112=) single nucleotide variant not provided [RCV003676630] Chr16:56867123 [GRCh38]
Chr16:56901035 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.424G>T (p.Val142Leu) single nucleotide variant SLC12A3-related condition [RCV003957201] Chr16:56867211 [GRCh38]
Chr16:56901123 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1568-5C>G single nucleotide variant SLC12A3-related condition [RCV003899853] Chr16:56882391 [GRCh38]
Chr16:56916303 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1096-42_1096-7del deletion SLC12A3-related condition [RCV003909369] Chr16:56878024..56878059 [GRCh38]
Chr16:56911936..56911971 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.1670-190G>A single nucleotide variant SLC12A3-related condition [RCV003961767] Chr16:56883859 [GRCh38]
Chr16:56917771 [GRCh37]
Chr16:16q13		 likely benign
NM_001126108.2(SLC12A3):c.447C>G (p.Asn149Lys) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV003992032] Chr16:56868314 [GRCh38]
Chr16:56902226 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1825+1G>C single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV003992088] Chr16:56884205 [GRCh38]
Chr16:56918117 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_001126108.2(SLC12A3):c.164C>T (p.Thr55Ile) single nucleotide variant Inborn genetic diseases [RCV004456236] Chr16:56865399 [GRCh38]
Chr16:56899311 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1891C>G (p.Leu631Val) single nucleotide variant Inborn genetic diseases [RCV004456237] Chr16:56885330 [GRCh38]
Chr16:56919242 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2489C>T (p.Thr830Ile) single nucleotide variant Inborn genetic diseases [RCV004456241] Chr16:56893022 [GRCh38]
Chr16:56926934 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2692G>A (p.Asp898Asn) single nucleotide variant Inborn genetic diseases [RCV004456242] Chr16:56899588 [GRCh38]
Chr16:56933500 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.787A>G (p.Ile263Val) single nucleotide variant Inborn genetic diseases [RCV004456246] Chr16:56870671 [GRCh38]
Chr16:56904583 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1568-12G>A single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV003991177] Chr16:56882384 [GRCh38]
Chr16:56916296 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.733C>A (p.Leu245Met) single nucleotide variant Inborn genetic diseases [RCV004456245] Chr16:56870227 [GRCh38]
Chr16:56904139 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1240G>A (p.Gly414Ser) single nucleotide variant Inborn genetic diseases [RCV004456234] Chr16:56879132 [GRCh38]
Chr16:56913044 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.1999C>T (p.Arg667Trp) single nucleotide variant Inborn genetic diseases [RCV004456238] Chr16:56886437 [GRCh38]
Chr16:56920349 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.2480G>A (p.Gly827Asp) single nucleotide variant Inborn genetic diseases [RCV004456240] Chr16:56893013 [GRCh38]
Chr16:56926925 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.689G>A (p.Gly230Asp) single nucleotide variant Inborn genetic diseases [RCV004456243] Chr16:56870183 [GRCh38]
Chr16:56904095 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.859G>A (p.Val287Met) single nucleotide variant Inborn genetic diseases [RCV004456247] Chr16:56872357 [GRCh38]
Chr16:56906269 [GRCh37]
Chr16:16q13		 uncertain significance
NM_001126108.2(SLC12A3):c.872T>A (p.Leu291His) single nucleotide variant Inborn genetic diseases [RCV004456248] Chr16:56872370 [GRCh38]
Chr16:56906282 [GRCh37]
Chr16:16q13		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2647
Count of miRNA genes:896
Interacting mature miRNAs:1066
Transcripts:ENST00000262502, ENST00000438926, ENST00000563236, ENST00000563352, ENST00000566786, ENST00000569002
Prediction methods:Miranda, Rnahybrid
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
STS-X91220  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371656,947,317 - 56,947,513UniSTSGRCh37
Build 361655,504,818 - 55,505,014RGDNCBI36
Celera1641,447,607 - 41,447,803RGD
Cytogenetic Map16q13UniSTS
HuRef1642,816,773 - 42,816,969UniSTS
GeneMap99-GB4 RH Map16353.74UniSTS
RH70938  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q13UniSTS
GeneMap99-GB4 RH Map16361.63UniSTS


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 adipose tissue appendage entire extraembryonic component
High
Medium 2 26 1 144 10 3 1
Low 83 8 24 6 599 6 5 3 15 53 85 42 6 1 2
Below cutoff 1553 1934 1253 396 1047 243 2918 1158 3209 162 1138 1207 156 848 1912 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000262502   ⟹   ENSP00000262502
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1656,865,211 - 56,914,525 (+)Ensembl
RefSeq Acc Id: ENST00000438926   ⟹   ENSP00000402152
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1656,865,207 - 56,915,850 (+)Ensembl
RefSeq Acc Id: ENST00000563236   ⟹   ENSP00000456149
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1656,865,207 - 56,915,850 (+)Ensembl
RefSeq Acc Id: ENST00000563352
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1656,907,026 - 56,913,978 (+)Ensembl
RefSeq Acc Id: ENST00000566786   ⟹   ENSP00000457552
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1656,865,207 - 56,913,405 (+)Ensembl
RefSeq Acc Id: ENST00000569002
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1656,902,222 - 56,904,852 (+)Ensembl
RefSeq Acc Id: NM_000339   ⟹   NP_000330
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381656,865,207 - 56,915,850 (+)NCBI
GRCh371656,899,119 - 56,949,762 (+)ENTREZGENE
Build 361655,456,643 - 55,504,850 (+)NCBI Archive
HuRef1642,768,662 - 42,819,218 (+)ENTREZGENE
CHM1_11658,307,135 - 58,357,791 (+)NCBI
T2T-CHM13v2.01662,661,526 - 62,712,168 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001126107   ⟹   NP_001119579
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381656,865,207 - 56,915,850 (+)NCBI
GRCh371656,899,119 - 56,949,762 (+)ENTREZGENE
HuRef1642,768,662 - 42,819,218 (+)ENTREZGENE
CHM1_11658,307,135 - 58,357,791 (+)NCBI
T2T-CHM13v2.01662,661,526 - 62,712,168 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001126108   ⟹   NP_001119580
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381656,865,207 - 56,915,850 (+)NCBI
GRCh371656,899,119 - 56,949,762 (+)ENTREZGENE
HuRef1642,768,662 - 42,819,218 (+)ENTREZGENE
CHM1_11658,307,135 - 58,357,791 (+)NCBI
T2T-CHM13v2.01662,661,526 - 62,712,168 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001410896   ⟹   NP_001397825
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381656,865,207 - 56,915,850 (+)NCBI
T2T-CHM13v2.01662,661,526 - 62,712,168 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_000330   ⟸   NM_000339
- Peptide Label: isoform 1
- Sequence:
RefSeq Acc Id: NP_001119580   ⟸   NM_001126108
- Peptide Label: isoform 3
- UniProtKB: P55017 (UniProtKB/Swiss-Prot),   A8MSJ2 (UniProtKB/Swiss-Prot),   C9JNN9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001119579   ⟸   NM_001126107
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: ENSP00000402152   ⟸   ENST00000438926
RefSeq Acc Id: ENSP00000456149   ⟸   ENST00000563236
RefSeq Acc Id: ENSP00000262502   ⟸   ENST00000262502
RefSeq Acc Id: ENSP00000457552   ⟸   ENST00000566786
RefSeq Acc Id: NP_001397825   ⟸   NM_001410896
- Peptide Label: isoform 4
- UniProtKB: J3QSS1 (UniProtKB/TrEMBL)
Protein Domains
Amino acid permease N-terminal   Amino acid permease/ SLC12A   SLC12A transporter C-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P55017-F1-model_v2 AlphaFold P55017 1-1021 view protein structure

Promoters
RGD ID:6793447
Promoter ID:HG_KWN:23871
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:NM_000339,   NM_001126107,   NM_001126108
Position:
Human AssemblyChrPosition (strand)Source
Build 361655,456,436 - 55,456,936 (+)MPROMDB
RGD ID:6811043
Promoter ID:HG_ACW:30835
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:SLC12A3.GAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361655,498,386 - 55,498,886 (+)MPROMDB
RGD ID:7232297
Promoter ID:EPDNEW_H21894
Type:initiation region
Name:SLC12A3_1
Description:solute carrier family 12 member 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381656,865,207 - 56,865,267EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10912 AgrOrtholog
COSMIC SLC12A3 COSMIC
Ensembl Genes ENSG00000070915 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000262502 ENTREZGENE
  ENST00000262502.5 UniProtKB/TrEMBL
  ENST00000438926 ENTREZGENE
  ENST00000438926.6 UniProtKB/Swiss-Prot
  ENST00000563236 ENTREZGENE
  ENST00000563236.6 UniProtKB/Swiss-Prot
  ENST00000566786 ENTREZGENE
  ENST00000566786.5 UniProtKB/Swiss-Prot
Gene3D-CATH Amino acid/polyamine transporter I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000070915 GTEx
HGNC ID HGNC:10912 ENTREZGENE
Human Proteome Map SLC12A3 Human Proteome Map
InterPro AA-permease/SLC12A_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AA_permease_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SLC12_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SLC12A3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SLC12A_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6559 UniProtKB/Swiss-Prot
NCBI Gene 6559 ENTREZGENE
OMIM 600968 OMIM
PANTHER PTHR11827 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11827:SF9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam AA_permease UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AA_permease_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SLC12 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA321 PharmGKB, RGD
PRINTS NACLTRNSPORT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8MSJ2 ENTREZGENE
  C9JNN9 ENTREZGENE
  J3QSS1 ENTREZGENE, UniProtKB/TrEMBL
  L8E783_HUMAN UniProtKB/TrEMBL
  P55017 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A8MSJ2 UniProtKB/Swiss-Prot
  C9JNN9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-23 SLC12A3  solute carrier family 12 member 3  SLC12A3  solute carrier family 12 (sodium/chloride transporter), member 3  Symbol and/or name change 5135510 APPROVED
2013-07-23 SLC12A3  solute carrier family 12 (sodium/chloride transporter), member 3  SLC12A3  solute carrier family 12 (sodium/chloride transporters), member 3  Symbol and/or name change 5135510 APPROVED