SLC12A1 (solute carrier family 12 member 1) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: SLC12A1 (solute carrier family 12 member 1) Homo sapiens
Analyze
Symbol: SLC12A1
Name: solute carrier family 12 member 1
RGD ID: 731943
HGNC Page HGNC:10910
Description: Enables sodium:potassium:chloride symporter activity. Involved in cell volume homeostasis. Located in extracellular exosome. Is active in apical plasma membrane. Implicated in Bartter disease and Bartter disease type 1.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BSC; BSC-1; BSC1; bumetanide-sensitive cotransporter type 1; bumetanide-sensitive sodium-(potassium)-chloride cotransporter 2; CCC2; kidney-specific Na-K-Cl symporter; MGC48843; Na-K-2Cl cotransporter; Na-K-2Cl cotransporter 2; NKCC2; NKCC2A variant A; solute carrier family 12 (sodium/potassium/chloride transporter), member 1; solute carrier family 12 (sodium/potassium/chloride transporters), member 1; solute carrier family 12, member 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381548,206,302 - 48,304,078 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1548,178,438 - 48,304,078 (+)EnsemblGRCh38hg38GRCh38
GRCh371548,498,499 - 48,596,275 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361546,285,790 - 46,383,567 (+)NCBINCBI36Build 36hg18NCBI36
Build 341546,287,189 - 46,382,417NCBI
Celera1525,391,005 - 25,488,781 (+)NCBICelera
Cytogenetic Map15q21.1NCBI
HuRef1525,331,539 - 25,429,297 (+)NCBIHuRef
CHM1_11548,616,680 - 48,714,374 (+)NCBICHM1_1
T2T-CHM13v2.01546,014,393 - 46,112,359 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

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

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
7. Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Simon DB, etal., Nat Genet. 1996 Jun;13(2):183-8.
Additional References at PubMed
PMID:7929272   PMID:8589530   PMID:9355073   PMID:9585600   PMID:9655365   PMID:9672238   PMID:10903893   PMID:11509477   PMID:11564973   PMID:12386165   PMID:12471046   PMID:12477932  
PMID:12761241   PMID:14528028   PMID:14967834   PMID:15167446   PMID:15326289   PMID:16344560   PMID:16807401   PMID:16832045   PMID:17460608   PMID:17998760   PMID:18391953   PMID:18495801  
PMID:18830715   PMID:19056867   PMID:19058262   PMID:19096086   PMID:19513753   PMID:19913121   PMID:20146722   PMID:20196086   PMID:20219833   PMID:20424473   PMID:20628086   PMID:20819979  
PMID:21082674   PMID:21209010   PMID:21321328   PMID:21613606   PMID:21631963   PMID:21867980   PMID:21873635   PMID:22211456   PMID:22388656   PMID:22989884   PMID:23325410   PMID:23376485  
PMID:23533145   PMID:23934736   PMID:24251329   PMID:24970686   PMID:25165391   PMID:25422309   PMID:25741940   PMID:27748541   PMID:28095294   PMID:30113482   PMID:30790175   PMID:30977917  
PMID:32694731   PMID:33672238   PMID:33973684   PMID:35011665   PMID:35044719   PMID:35090230   PMID:35358470   PMID:35605301   PMID:36361553   PMID:37074453   PMID:37968800   PMID:38003293  
PMID:38474353  


Genomics

Comparative Map Data
SLC12A1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381548,206,302 - 48,304,078 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1548,178,438 - 48,304,078 (+)EnsemblGRCh38hg38GRCh38
GRCh371548,498,499 - 48,596,275 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361546,285,790 - 46,383,567 (+)NCBINCBI36Build 36hg18NCBI36
Build 341546,287,189 - 46,382,417NCBI
Celera1525,391,005 - 25,488,781 (+)NCBICelera
Cytogenetic Map15q21.1NCBI
HuRef1525,331,539 - 25,429,297 (+)NCBIHuRef
CHM1_11548,616,680 - 48,714,374 (+)NCBICHM1_1
T2T-CHM13v2.01546,014,393 - 46,112,359 (+)NCBIT2T-CHM13v2.0
Slc12a1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392124,994,430 - 125,071,922 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2124,994,425 - 125,071,922 (+)EnsemblGRCm39 Ensembl
GRCm382125,152,510 - 125,230,002 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2125,152,505 - 125,230,002 (+)EnsemblGRCm38mm10GRCm38
MGSCv372124,978,336 - 125,055,738 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362124,844,041 - 124,921,440 (+)NCBIMGSCv36mm8
Celera2126,402,848 - 126,480,313 (+)NCBICelera
Cytogenetic Map2F1NCBI
cM Map261.23NCBI
Slc12a1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83132,859,581 - 132,936,354 (+)NCBIGRCr8
mRatBN7.23112,406,140 - 112,482,913 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3112,406,140 - 112,482,899 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3116,266,766 - 116,343,349 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03124,862,282 - 124,938,867 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03122,522,644 - 122,599,228 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.03117,421,531 - 117,498,372 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3117,421,604 - 117,498,367 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03123,945,362 - 124,022,090 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43112,455,897 - 112,534,752 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.13112,361,400 - 112,440,311 (+)NCBI
Celera3111,264,326 - 111,339,676 (+)NCBICelera
Cytogenetic Map3q36NCBI
Slc12a1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554095,597,033 - 5,680,009 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554095,597,033 - 5,680,009 (-)NCBIChiLan1.0ChiLan1.0
SLC12A1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21637,446,971 - 37,544,617 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11541,628,311 - 41,725,989 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01527,155,331 - 27,252,995 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11545,479,583 - 45,577,084 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1545,479,583 - 45,577,084 (+)Ensemblpanpan1.1panPan2
SLC12A1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13014,458,373 - 14,548,870 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3014,459,606 - 14,547,694 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3014,381,456 - 14,470,305 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03014,593,665 - 14,682,546 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3014,593,691 - 14,681,371 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13014,516,360 - 14,605,436 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03014,631,905 - 14,720,735 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03014,743,702 - 14,832,801 (+)NCBIUU_Cfam_GSD_1.0
Slc12a1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864092,716,292 - 92,799,975 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647110,564,535 - 10,646,977 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647110,564,530 - 10,648,124 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC12A1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1123,481,369 - 123,571,630 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11123,481,892 - 123,571,655 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21137,511,070 - 137,604,350 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SLC12A1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12634,974,947 - 35,077,241 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2634,976,126 - 35,075,186 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666048106,034,886 - 106,153,601 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Slc12a1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473111,403,675 - 11,484,982 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473111,403,936 - 11,486,244 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SLC12A1
786 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000338.3(SLC12A1):c.1942G>A (p.Asp648Asn) single nucleotide variant Bartter disease type 1 [RCV000009295]|Familial hypokalemia-hypomagnesemia [RCV001328098] Chr15:48251770 [GRCh38]
Chr15:48543967 [GRCh37]
Chr15:15q21.1		 pathogenic|uncertain significance
NM_000338.3(SLC12A1):c.814G>T (p.Val272Phe) single nucleotide variant Bartter disease type 1 [RCV000009296] Chr15:48229278 [GRCh38]
Chr15:48521475 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.1875G>A (p.Trp625Ter) single nucleotide variant Bartter disease type 1 [RCV000009297]|SLC12A1-related condition [RCV003934814]|not provided [RCV003555985] Chr15:48251703 [GRCh38]
Chr15:48543900 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.724+4A>G single nucleotide variant Bartter disease type 1 [RCV000009298] Chr15:48226575 [GRCh38]
Chr15:48518772 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.2095del (p.Asp699fs) deletion Bartter disease type 1 [RCV000009299] Chr15:48259251 [GRCh38]
Chr15:48551448 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.2773C>T (p.Leu925Phe) single nucleotide variant not provided [RCV000723032] Chr15:48288416 [GRCh38]
Chr15:48580613 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.1826C>G (p.Ser609Cys) single nucleotide variant not provided [RCV000723081] Chr15:48251654 [GRCh38]
Chr15:48543851 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.708C>T (p.Asn236=) single nucleotide variant Bartter disease type 1 [RCV002506260]|not provided [RCV000904168]|not specified [RCV000517087] Chr15:48226555 [GRCh38]
Chr15:48518752 [GRCh37]
Chr15:15q21.1		 benign|likely benign
GRCh38/hg38 15q21.1-21.3(chr15:46042302-54195828)x1 copy number loss See cases [RCV000051619] Chr15:46042302..54195828 [GRCh38]
Chr15:46334500..54488025 [GRCh37]
Chr15:44121792..52275317 [NCBI36]
Chr15:15q21.1-21.3		 pathogenic
NM_000338.3(SLC12A1):c.1998T>C (p.Asn666=) single nucleotide variant Bartter disease type 1 [RCV001118476]|not provided [RCV000054593] Chr15:48255866 [GRCh38]
Chr15:48548063 [GRCh37]
Chr15:15q21.1		 benign|uncertain significance
NM_000338.3(SLC12A1):c.2176A>T (p.Lys726Ter) single nucleotide variant not provided [RCV000054594] Chr15:48267582 [GRCh38]
Chr15:48559779 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2177A>T (p.Lys726Met) single nucleotide variant not provided [RCV000054595] Chr15:48267583 [GRCh38]
Chr15:48559780 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2262C>T (p.Asp754=) single nucleotide variant not provided [RCV000054596] Chr15:48267668 [GRCh38]
Chr15:48559865 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_000338.3(SLC12A1):c.386C>T (p.Pro129Leu) single nucleotide variant not provided [RCV000054597] Chr15:48208105 [GRCh38]
Chr15:48500302 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.503A>G (p.Glu168Gly) single nucleotide variant not provided [RCV000054598] Chr15:48220716 [GRCh38]
Chr15:48512913 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.510T>A (p.Asp170Glu) single nucleotide variant not provided [RCV000054599] Chr15:48220723 [GRCh38]
Chr15:48512920 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.1149C>T (p.Val383=) single nucleotide variant not provided [RCV000054591] Chr15:48234938 [GRCh38]
Chr15:48527135 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_000338.3(SLC12A1):c.13A>G (p.Asn5Asp) single nucleotide variant not provided [RCV000054592] Chr15:48207732 [GRCh38]
Chr15:48499929 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.2(SLC12A1):c.746C>T (p.Ser249Phe) single nucleotide variant Malignant melanoma [RCV000070805] Chr15:48229210 [GRCh38]
Chr15:48521407 [GRCh37]
Chr15:46308699 [NCBI36]
Chr15:15q21.1		 not provided
NM_000338.3(SLC12A1):c.769G>A (p.Gly257Ser) single nucleotide variant Nephrocalcinosis [RCV000662324]|not provided [RCV001855404] Chr15:48229233 [GRCh38]
Chr15:48521430 [GRCh37]
Chr15:15q21.1		 pathogenic|likely pathogenic
NM_000338.3(SLC12A1):c.1424G>A (p.Cys475Tyr) single nucleotide variant Nephrocalcinosis [RCV000662325] Chr15:48244876 [GRCh38]
Chr15:48537073 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_000338.3(SLC12A1):c.347G>A (p.Arg116His) single nucleotide variant Bartter disease type 1 [RCV000989308]|SLC12A1-related condition [RCV003942673]|not provided [RCV000513713]|not specified [RCV002271518] Chr15:48208066 [GRCh38]
Chr15:48500263 [GRCh37]
Chr15:15q21.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000338.3(SLC12A1):c.843G>C (p.Glu281Asp) single nucleotide variant Bartter disease type 1 [RCV000256371] Chr15:48229307 [GRCh38]
Chr15:48521504 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_000338.3(SLC12A1):c.1163del (p.Phe388fs) deletion Bartter disease type 1 [RCV000256407]|Nephrocalcinosis [RCV000662326]|not provided [RCV002518773] Chr15:48234946 [GRCh38]
Chr15:48527143 [GRCh37]
Chr15:15q21.1		 pathogenic|likely pathogenic
GRCh38/hg38 15q21.1-21.2(chr15:47460844-52494222)x1 copy number loss See cases [RCV000135639] Chr15:47460844..52494222 [GRCh38]
Chr15:47753041..52786419 [GRCh37]
Chr15:45540333..50573711 [NCBI36]
Chr15:15q21.1-21.2		 pathogenic
NM_000338.3(SLC12A1):c.2043-9dup duplication not provided [RCV000713320]|not specified [RCV000244143] Chr15:48259183..48259184 [GRCh38]
Chr15:48551380..48551381 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.2873T>C (p.Val958Ala) single nucleotide variant Bartter disease type 1 [RCV000576385]|not provided [RCV001512478]|not specified [RCV000248948] Chr15:48288516 [GRCh38]
Chr15:48580713 [GRCh37]
Chr15:15q21.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000338.3(SLC12A1):c.993G>A (p.Leu331=) single nucleotide variant not provided [RCV003669115]|not specified [RCV000254092] Chr15:48232744 [GRCh38]
Chr15:48524941 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1614T>C (p.Tyr538=) single nucleotide variant Bartter disease type 1 [RCV000287873]|not provided [RCV001512477]|not specified [RCV000251968] Chr15:48247390 [GRCh38]
Chr15:48539587 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.*158C>T single nucleotide variant Bartter disease type 1 [RCV000268890]|not provided [RCV001823133] Chr15:48303043 [GRCh38]
Chr15:48595240 [GRCh37]
Chr15:15q21.1		 benign|likely benign
NM_000338.3(SLC12A1):c.2296-6G>T single nucleotide variant Bartter disease type 1 [RCV000370020]|not provided [RCV000896911]|not specified [RCV001288424] Chr15:48269652 [GRCh38]
Chr15:48561849 [GRCh37]
Chr15:15q21.1		 benign|likely benign
NM_000338.3(SLC12A1):c.2943T>C (p.Ile981=) single nucleotide variant Bartter disease type 1 [RCV000283857]|SLC12A1-related condition [RCV003910194]|not provided [RCV000917161] Chr15:48291847 [GRCh38]
Chr15:48584044 [GRCh37]
Chr15:15q21.1		 benign|likely benign|uncertain significance
NM_000338.3(SLC12A1):c.*284A>G single nucleotide variant Bartter disease type 1 [RCV000305368]|not provided [RCV001613014] Chr15:48303169 [GRCh38]
Chr15:48595366 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.2630-7G>A single nucleotide variant Bartter disease type 1 [RCV000271716]|SLC12A1-related condition [RCV003930361]|not provided [RCV000963126] Chr15:48288036 [GRCh38]
Chr15:48580233 [GRCh37]
Chr15:15q21.1		 benign|likely benign
NM_000338.3(SLC12A1):c.445G>A (p.Ala149Thr) single nucleotide variant Bartter disease type 1 [RCV000331299]|SLC12A1-related condition [RCV003972348]|not provided [RCV001850672] Chr15:48220658 [GRCh38]
Chr15:48512855 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_000338.3(SLC12A1):c.828G>A (p.Val276=) single nucleotide variant Bartter disease type 1 [RCV000291241]|not provided [RCV000713325] Chr15:48229292 [GRCh38]
Chr15:48521489 [GRCh37]
Chr15:15q21.1		 benign|likely benign
NM_000338.3(SLC12A1):c.2435T>C (p.Ile812Thr) single nucleotide variant Bartter disease type 1 [RCV000275285]|not provided [RCV002522799] Chr15:48274603 [GRCh38]
Chr15:48566800 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.381C>T (p.Asn127=) single nucleotide variant Bartter disease type 1 [RCV000276144]|SLC12A1-related condition [RCV003930360]|not provided [RCV002061184] Chr15:48208100 [GRCh38]
Chr15:48500297 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_000338.3(SLC12A1):c.*300T>C single nucleotide variant Bartter disease type 1 [RCV000360111]|not provided [RCV001675803] Chr15:48303185 [GRCh38]
Chr15:48595382 [GRCh37]
Chr15:15q21.1		 benign|likely benign
NM_000338.3(SLC12A1):c.2098A>C (p.Ile700Leu) single nucleotide variant Bartter disease type 1 [RCV000338977]|not provided [RCV002522798] Chr15:48259255 [GRCh38]
Chr15:48551452 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.-113A>C single nucleotide variant Bartter disease type 1 [RCV000262160] Chr15:48207607 [GRCh38]
Chr15:48499804 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.3113G>A (p.Arg1038Gln) single nucleotide variant Bartter disease type 1 [RCV000280270]|Inborn genetic diseases [RCV002522800]|not provided [RCV001764285] Chr15:48301331 [GRCh38]
Chr15:48593528 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2198C>T (p.Ala733Val) single nucleotide variant Bartter disease type 1 [RCV000299338]|not provided [RCV000949379] Chr15:48267604 [GRCh38]
Chr15:48559801 [GRCh37]
Chr15:15q21.1		 benign|likely benign
NM_000338.3(SLC12A1):c.1855G>A (p.Val619Ile) single nucleotide variant Bartter disease type 1 [RCV000342503]|not provided [RCV001850673] Chr15:48251683 [GRCh38]
Chr15:48543880 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.3096+7A>T single nucleotide variant Bartter disease type 1 [RCV000391092]|not provided [RCV000969964]|not specified [RCV001288425] Chr15:48299282 [GRCh38]
Chr15:48591479 [GRCh37]
Chr15:15q21.1		 benign|likely benign|uncertain significance
NM_000338.3(SLC12A1):c.2607T>C (p.Ile869=) single nucleotide variant Bartter disease type 1 [RCV000366286]|not provided [RCV003736714] Chr15:48285227 [GRCh38]
Chr15:48577424 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_000338.3(SLC12A1):c.*126T>C single nucleotide variant Bartter disease type 1 [RCV000394736]|not provided [RCV001672512] Chr15:48303011 [GRCh38]
Chr15:48595208 [GRCh37]
Chr15:15q21.1		 benign|likely benign
NM_000338.3(SLC12A1):c.2210C>T (p.Ala737Val) single nucleotide variant Bartter disease type 1 [RCV000394924]|not provided [RCV000894377] Chr15:48267616 [GRCh38]
Chr15:48559813 [GRCh37]
Chr15:15q21.1		 benign|likely benign
NM_000338.3(SLC12A1):c.2028C>T (p.His676=) single nucleotide variant Bartter disease type 1 [RCV000283916]|not provided [RCV003718176] Chr15:48255896 [GRCh38]
Chr15:48548093 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_000338.3(SLC12A1):c.355G>A (p.Gly119Ser) single nucleotide variant Bartter disease type 1 [RCV000370737] Chr15:48208074 [GRCh38]
Chr15:48500271 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.*110G>T single nucleotide variant Bartter disease type 1 [RCV000348266]|not provided [RCV001538257] Chr15:48302995 [GRCh38]
Chr15:48595192 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.*1084A>T single nucleotide variant Bartter disease type 1 [RCV000374469] Chr15:48303969 [GRCh38]
Chr15:48596166 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.905G>A (p.Arg302Gln) single nucleotide variant Bartter disease type 1 [RCV002248509]|Bartter syndrome [RCV002509348]|not provided [RCV000348606] Chr15:48230433 [GRCh38]
Chr15:48522630 [GRCh37]
Chr15:15q21.1		 pathogenic|uncertain significance
NM_000338.3(SLC12A1):c.*136G>A single nucleotide variant Bartter disease type 1 [RCV000308769] Chr15:48303021 [GRCh38]
Chr15:48595218 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2521T>C (p.Leu841=) single nucleotide variant Bartter disease type 1 [RCV000330344]|not provided [RCV001463388] Chr15:48285141 [GRCh38]
Chr15:48577338 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_000338.3(SLC12A1):c.*1179A>T single nucleotide variant Bartter disease type 1 [RCV000263429] Chr15:48304064 [GRCh38]
Chr15:48596261 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2199G>A (p.Ala733=) single nucleotide variant Bartter disease type 1 [RCV000354337]|not provided [RCV000911316] Chr15:48267605 [GRCh38]
Chr15:48559802 [GRCh37]
Chr15:15q21.1		 benign|likely benign|uncertain significance
NM_000338.3(SLC12A1):c.2929G>A (p.Gly977Ser) single nucleotide variant Bartter disease type 1 [RCV000378332] Chr15:48291833 [GRCh38]
Chr15:48584030 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_000338.3(SLC12A1):c.*50A>C single nucleotide variant Bartter disease type 1 [RCV000403182] Chr15:48302935 [GRCh38]
Chr15:48595132 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.*590T>C single nucleotide variant Bartter disease type 1 [RCV000264773] Chr15:48303475 [GRCh38]
Chr15:48595672 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.1912C>T (p.Leu638Phe) single nucleotide variant Bartter disease type 1 [RCV000404898] Chr15:48251740 [GRCh38]
Chr15:48543937 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2106C>T (p.His702=) single nucleotide variant Bartter disease type 1 [RCV000404619]|SLC12A1-related condition [RCV003969885]|not provided [RCV002520963] Chr15:48259263 [GRCh38]
Chr15:48551460 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_000338.3(SLC12A1):c.*101C>A single nucleotide variant Bartter disease type 1 [RCV000312182]|not provided [RCV001672511] Chr15:48302986 [GRCh38]
Chr15:48595183 [GRCh37]
Chr15:15q21.1		 benign|likely benign
NM_000338.3(SLC12A1):c.-136A>G single nucleotide variant Bartter disease type 1 [RCV000357059]|not provided [RCV001690055] Chr15:48207584 [GRCh38]
Chr15:48499781 [GRCh37]
Chr15:15q21.1		 benign|likely benign
NM_000338.3(SLC12A1):c.2787C>T (p.Ile929=) single nucleotide variant Bartter disease type 1 [RCV000381313]|not provided [RCV000885239]|not specified [RCV001805019] Chr15:48288430 [GRCh38]
Chr15:48580627 [GRCh37]
Chr15:15q21.1		 benign|likely benign
NM_000338.3(SLC12A1):c.1560+10G>A single nucleotide variant Bartter disease type 1 [RCV000382205]|not provided [RCV000904748] Chr15:48247026 [GRCh38]
Chr15:48539223 [GRCh37]
Chr15:15q21.1		 benign|uncertain significance
NM_000338.3(SLC12A1):c.*12T>C single nucleotide variant Bartter disease type 1 [RCV000335322] Chr15:48302897 [GRCh38]
Chr15:48595094 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2255C>T (p.Ala752Val) single nucleotide variant Bartter disease type 1 [RCV000315297]|Failure to thrive [RCV000735359]|SLC12A1-related condition [RCV003910193]|not provided [RCV001241458] Chr15:48267661 [GRCh38]
Chr15:48559858 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_000338.3(SLC12A1):c.497A>G (p.Asn166Ser) single nucleotide variant Bartter disease type 1 [RCV000385805] Chr15:48220710 [GRCh38]
Chr15:48512907 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.1089A>G (p.Ala363=) single nucleotide variant not provided [RCV000333650]|not specified [RCV002509347] Chr15:48234878 [GRCh38]
Chr15:48527075 [GRCh37]
Chr15:15q21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000338.3(SLC12A1):c.*153T>C single nucleotide variant Bartter disease type 1 [RCV000363411] Chr15:48303038 [GRCh38]
Chr15:48595235 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.3248C>G (p.Pro1083Arg) single nucleotide variant not provided [RCV000722849] Chr15:48302833 [GRCh38]
Chr15:48595030 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.1942+1G>T single nucleotide variant not provided [RCV000722423] Chr15:48251771 [GRCh38]
Chr15:48543968 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.-100C>T single nucleotide variant Bartter disease type 1 [RCV000317380] Chr15:48207620 [GRCh38]
Chr15:48499817 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.*921T>C single nucleotide variant Bartter disease type 1 [RCV000322176] Chr15:48303806 [GRCh38]
Chr15:48596003 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2854A>C (p.Ile952Leu) single nucleotide variant Bartter disease type 1 [RCV000287313] Chr15:48288497 [GRCh38]
Chr15:48580694 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2979G>A (p.Glu993=) single nucleotide variant Bartter disease type 1 [RCV000338643] Chr15:48299158 [GRCh38]
Chr15:48591355 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2781C>G (p.Pro927=) single nucleotide variant Bartter disease type 1 [RCV000326669] Chr15:48288424 [GRCh38]
Chr15:48580621 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.1265C>T (p.Thr422Ile) single nucleotide variant Bartter disease type 1 [RCV000327597] Chr15:48241564 [GRCh38]
Chr15:48533761 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2405A>G (p.Asp802Gly) single nucleotide variant Bartter disease type 1 [RCV001120294]|Inborn genetic diseases [RCV002556576]|not provided [RCV002556575] Chr15:48274573 [GRCh38]
Chr15:48566770 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.*216A>C single nucleotide variant Bartter disease type 1 [RCV001120394] Chr15:48303101 [GRCh38]
Chr15:48595298 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.1917C>G (p.Tyr639Ter) single nucleotide variant not provided [RCV000627385] Chr15:48251745 [GRCh38]
Chr15:48543942 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.2209G>A (p.Ala737Thr) single nucleotide variant Bartter disease type 1 [RCV001119996]|Inborn genetic diseases [RCV002556566]|not provided [RCV001373103] Chr15:48267615 [GRCh38]
Chr15:48559812 [GRCh37]
Chr15:15q21.1		 benign|uncertain significance
NM_000338.3(SLC12A1):c.2873+1G>A single nucleotide variant not provided [RCV000522742] Chr15:48288517 [GRCh38]
Chr15:48580714 [GRCh37]
Chr15:15q21.1		 pathogenic
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain See cases [RCV000447123] Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3		 pathogenic
GRCh37/hg19 15q15.2-21.2(chr15:42850434-49592633)x1 copy number loss See cases [RCV000447035] Chr15:42850434..49592633 [GRCh37]
Chr15:15q15.2-21.2		 pathogenic
GRCh37/hg19 15q21.1-21.2(chr15:47574384-50369056)x1 copy number loss See cases [RCV000447640] Chr15:47574384..50369056 [GRCh37]
Chr15:15q21.1-21.2		 pathogenic
NM_000338.3(SLC12A1):c.1833del (p.Phe611fs) deletion Bartter disease type 1 [RCV000418206]|not provided [RCV002524769] Chr15:48251657 [GRCh38]
Chr15:48543854 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.1883C>A (p.Ala628Asp) single nucleotide variant Bartter disease type 1 [RCV000420163]|not provided [RCV003558375] Chr15:48251711 [GRCh38]
Chr15:48543908 [GRCh37]
Chr15:15q21.1		 pathogenic|likely pathogenic
NM_000338.3(SLC12A1):c.1137del (p.Phe380fs) deletion Bartter disease type 1 [RCV000427573] Chr15:48234926 [GRCh38]
Chr15:48527123 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.2787dup (p.Thr931fs) duplication Bartter disease type 1 [RCV000430820] Chr15:48288429..48288430 [GRCh38]
Chr15:48580626..48580627 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.2498_2499del (p.Arg833fs) microsatellite Bartter disease type 1 [RCV000438920]|not provided [RCV003558376] Chr15:48285113..48285114 [GRCh38]
Chr15:48577310..48577311 [GRCh37]
Chr15:15q21.1		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1 copy number loss See cases [RCV000448968] Chr15:41689327..52446981 [GRCh37]
Chr15:15q15.1-21.2		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3		 pathogenic
NM_000338.3(SLC12A1):c.3104G>A (p.Arg1035His) single nucleotide variant Inborn genetic diseases [RCV003256866] Chr15:48301322 [GRCh38]
Chr15:48593519 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.506A>T (p.Asp169Val) single nucleotide variant Inborn genetic diseases [RCV003253324] Chr15:48220719 [GRCh38]
Chr15:48512916 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.724+547C>T single nucleotide variant Bartter disease type 1 [RCV000626161] Chr15:48227118 [GRCh38]
Chr15:48519315 [GRCh37]
Chr15:15q21.1		 likely pathogenic|uncertain significance
GRCh37/hg19 15q15.3-21.3(chr15:43759773-53252240)x1 copy number loss not provided [RCV000683686] Chr15:43759773..53252240 [GRCh37]
Chr15:15q15.3-21.3		 pathogenic
NM_000338.3(SLC12A1):c.2435T>G (p.Ile812Arg) single nucleotide variant Bartter disease type 1 [RCV000765216]|not provided [RCV000713323] Chr15:48274603 [GRCh38]
Chr15:48566800 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.206G>A (p.Cys69Tyr) single nucleotide variant Bartter disease type 1 [RCV000765215]|not provided [RCV000713321] Chr15:48207925 [GRCh38]
Chr15:48500122 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2978del (p.Glu993fs) deletion not provided [RCV000713324] Chr15:48299157 [GRCh38]
Chr15:48591354 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_000338.3(SLC12A1):c.2338G>C (p.Gly780Arg) single nucleotide variant not provided [RCV000713322] Chr15:48269700 [GRCh38]
Chr15:48561897 [GRCh37]
Chr15:15q21.1		 uncertain significance
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
NM_000338.3(SLC12A1):c.2485+164T>C single nucleotide variant not provided [RCV001724695] Chr15:48274817 [GRCh38]
Chr15:48567014 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.1083C>T (p.Tyr361=) single nucleotide variant not provided [RCV000979683] Chr15:48232834 [GRCh38]
Chr15:48525031 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1087+285T>C single nucleotide variant not provided [RCV001667629] Chr15:48233123 [GRCh38]
Chr15:48525320 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.2874-45T>C single nucleotide variant not provided [RCV001545900] Chr15:48291733 [GRCh38]
Chr15:48583930 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2874-138C>A single nucleotide variant not provided [RCV001725404] Chr15:48291640 [GRCh38]
Chr15:48583837 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.2296-148G>A single nucleotide variant not provided [RCV001583782] Chr15:48269510 [GRCh38]
Chr15:48561707 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1215+277A>C single nucleotide variant not provided [RCV001567310] Chr15:48235281 [GRCh38]
Chr15:48527478 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2043-32G>T single nucleotide variant not provided [RCV001574299] Chr15:48259168 [GRCh38]
Chr15:48551365 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2834_2873+12del deletion Bartter disease type 1 [RCV000761354] Chr15:48288475..48288526 [GRCh38]
Chr15:48580672..48580723 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_000338.3(SLC12A1):c.*1042C>T single nucleotide variant Bartter disease type 1 [RCV001116919] Chr15:48303927 [GRCh38]
Chr15:48596124 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.*593A>G single nucleotide variant Bartter disease type 1 [RCV001115502] Chr15:48303478 [GRCh38]
Chr15:48595675 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.1088-253A>G single nucleotide variant not provided [RCV001708991] Chr15:48234624 [GRCh38]
Chr15:48526821 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.2154+197G>A single nucleotide variant not provided [RCV001583657] Chr15:48259508 [GRCh38]
Chr15:48551705 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2961-239A>T single nucleotide variant not provided [RCV001586286] Chr15:48298901 [GRCh38]
Chr15:48591098 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.415G>A (p.Ala139Thr) single nucleotide variant Bartter disease type 1 [RCV001119907]|SLC12A1-related condition [RCV003962839]|not provided [RCV000967356] Chr15:48208134 [GRCh38]
Chr15:48500331 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.206G>T (p.Cys69Phe) single nucleotide variant not provided [RCV000879871] Chr15:48207925 [GRCh38]
Chr15:48500122 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.189G>A (p.Arg63=) single nucleotide variant Bartter disease type 1 [RCV002502997]|not provided [RCV000959218] Chr15:48207908 [GRCh38]
Chr15:48500105 [GRCh37]
Chr15:15q21.1		 benign|likely benign
NM_000338.3(SLC12A1):c.2278G>A (p.Val760Ile) single nucleotide variant not provided [RCV000899385] Chr15:48267684 [GRCh38]
Chr15:48559881 [GRCh37]
Chr15:15q21.1		 likely benign|conflicting interpretations of pathogenicity
NM_000338.3(SLC12A1):c.2759G>A (p.Gly920Glu) single nucleotide variant not provided [RCV000995326] Chr15:48288172 [GRCh38]
Chr15:48580369 [GRCh37]
Chr15:15q21.1		 uncertain significance
NC_000015.10:g.(?_48134288)_(48644779_?)del deletion Marfan syndrome [RCV001032801] Chr15:48426485..48936976 [GRCh37]
Chr15:15q21.1		 pathogenic
Single allele deletion Marfan syndrome [RCV000824957] Chr15:48051994..48830007 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.1522G>A (p.Ala508Thr) single nucleotide variant Bartter disease type 1 [RCV000779167]|not provided [RCV000992996] Chr15:48246978 [GRCh38]
Chr15:48539175 [GRCh37]
Chr15:15q21.1		 pathogenic|likely pathogenic
NM_000338.3(SLC12A1):c.2424T>C (p.Ile808=) single nucleotide variant not provided [RCV000894429] Chr15:48274592 [GRCh38]
Chr15:48566789 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2148C>G (p.Val716=) single nucleotide variant not provided [RCV000937762] Chr15:48259305 [GRCh38]
Chr15:48551502 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2643C>T (p.Asn881=) single nucleotide variant not provided [RCV000928536] Chr15:48288056 [GRCh38]
Chr15:48580253 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.660C>T (p.Thr220=) single nucleotide variant not provided [RCV000980570] Chr15:48226507 [GRCh38]
Chr15:48518704 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1338T>C (p.Asn446=) single nucleotide variant not provided [RCV000924850] Chr15:48244790 [GRCh38]
Chr15:48536987 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.71G>A (p.Ser24Asn) single nucleotide variant not provided [RCV000959217] Chr15:48207790 [GRCh38]
Chr15:48499987 [GRCh37]
Chr15:15q21.1		 benign|likely benign
GRCh37/hg19 15q21.1(chr15:48549910-48562459)x3 copy number gain not provided [RCV000848678] Chr15:48549910..48562459 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.*629G>A single nucleotide variant Bartter disease type 1 [RCV001115503] Chr15:48303514 [GRCh38]
Chr15:48595711 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2785A>G (p.Ile929Val) single nucleotide variant Bartter disease type 1 [RCV001115405] Chr15:48288428 [GRCh38]
Chr15:48580625 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.1494G>A (p.Ala498=) single nucleotide variant Bartter disease type 1 [RCV001115321]|not provided [RCV003769144] Chr15:48246950 [GRCh38]
Chr15:48539147 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_000338.3(SLC12A1):c.2067G>A (p.Gly689=) single nucleotide variant Bartter disease type 1 [RCV001118477]|SLC12A1-related condition [RCV003905790]|not provided [RCV000958690] Chr15:48259224 [GRCh38]
Chr15:48551421 [GRCh37]
Chr15:15q21.1		 benign|likely benign
NM_000338.3(SLC12A1):c.2835G>T (p.Val945=) single nucleotide variant not provided [RCV000980324] Chr15:48288478 [GRCh38]
Chr15:48580675 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1903G>A (p.Glu635Lys) single nucleotide variant Bartter disease type 1 [RCV001118475] Chr15:48251731 [GRCh38]
Chr15:48543928 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.434C>A (p.Thr145Asn) single nucleotide variant Bartter disease type 1 [RCV001119908] Chr15:48220647 [GRCh38]
Chr15:48512844 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.1300+12G>A single nucleotide variant Bartter disease type 1 [RCV001115320]|not provided [RCV001513510] Chr15:48241611 [GRCh38]
Chr15:48533808 [GRCh37]
Chr15:15q21.1		 benign|likely benign
NM_000338.3(SLC12A1):c.2676C>T (p.Asn892=) single nucleotide variant Bartter disease type 1 [RCV001115404]|not provided [RCV003769148] Chr15:48288089 [GRCh38]
Chr15:48580286 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_000338.3(SLC12A1):c.*862A>G single nucleotide variant Bartter disease type 1 [RCV001115504] Chr15:48303747 [GRCh38]
Chr15:48595944 [GRCh37]
Chr15:15q21.1		 likely benign
GRCh37/hg19 15q21.1(chr15:48545362-48581182)x1 copy number loss not provided [RCV000849190] Chr15:48545362..48581182 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.2770C>T (p.Leu924Phe) single nucleotide variant not provided [RCV000992998] Chr15:48288413 [GRCh38]
Chr15:48580610 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.816T>C (p.Val272=) single nucleotide variant Bartter disease type 1 [RCV002497292]|not provided [RCV000993000] Chr15:48229280 [GRCh38]
Chr15:48521477 [GRCh37]
Chr15:15q21.1		 likely benign
GRCh37/hg19 15q21.1-21.2(chr15:47192561-50819726)x1 copy number loss not provided [RCV001006685] Chr15:47192561..50819726 [GRCh37]
Chr15:15q21.1-21.2		 pathogenic
GRCh37/hg19 15q21.1-22.2(chr15:48000433-60747551)x3 copy number gain not provided [RCV000845891] Chr15:48000433..60747551 [GRCh37]
Chr15:15q21.1-22.2		 pathogenic
NM_000338.3(SLC12A1):c.2342A>G (p.Tyr781Cys) single nucleotide variant Bartter disease type 1 [RCV002497770]|not provided [RCV001226295] Chr15:48269704 [GRCh38]
Chr15:48561901 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.262G>A (p.Ala88Thr) single nucleotide variant Inborn genetic diseases [RCV002549823]|not provided [RCV000992997] Chr15:48207981 [GRCh38]
Chr15:48500178 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2242del (p.Tyr748fs) deletion Bartter disease type 1 [RCV002482169]|not provided [RCV001093328] Chr15:48267644 [GRCh38]
Chr15:48559841 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.*496C>T single nucleotide variant Bartter disease type 1 [RCV001115501] Chr15:48303381 [GRCh38]
Chr15:48595578 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.807A>G (p.Ala269=) single nucleotide variant Bartter disease type 1 [RCV001121893]|not provided [RCV002558207] Chr15:48229271 [GRCh38]
Chr15:48521468 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_000338.3(SLC12A1):c.2919C>G (p.Ile973Met) single nucleotide variant Bartter disease type 1 [RCV001118558] Chr15:48291823 [GRCh38]
Chr15:48584020 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.724+146T>A single nucleotide variant not provided [RCV001572536] Chr15:48226717 [GRCh38]
Chr15:48518914 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.629-118C>T single nucleotide variant not provided [RCV001550791] Chr15:48226358 [GRCh38]
Chr15:48518555 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.420+57C>G single nucleotide variant not provided [RCV001546592] Chr15:48208196 [GRCh38]
Chr15:48500393 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2402+219C>A single nucleotide variant not provided [RCV001616896] Chr15:48269983 [GRCh38]
Chr15:48562180 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.2486-235T>C single nucleotide variant not provided [RCV001555212] Chr15:48284871 [GRCh38]
Chr15:48577068 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1942+85G>T single nucleotide variant not provided [RCV001681056] Chr15:48251855 [GRCh38]
Chr15:48544052 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.1942+157G>A single nucleotide variant not provided [RCV001576409] Chr15:48251927 [GRCh38]
Chr15:48544124 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1786+122A>G single nucleotide variant not provided [RCV001651570] Chr15:48249798 [GRCh38]
Chr15:48541995 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.2485+271G>A single nucleotide variant not provided [RCV001652180] Chr15:48274924 [GRCh38]
Chr15:48567121 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.1453-80A>T single nucleotide variant not provided [RCV001681767] Chr15:48246829 [GRCh38]
Chr15:48539026 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.3165-102_3165-100dup duplication not provided [RCV001676555] Chr15:48302626..48302627 [GRCh38]
Chr15:48594823..48594824 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.2960+22A>C single nucleotide variant not provided [RCV001670072] Chr15:48291886 [GRCh38]
Chr15:48584083 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.2961-70C>T single nucleotide variant not provided [RCV001652385] Chr15:48299070 [GRCh38]
Chr15:48591267 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.975+30A>T single nucleotide variant not provided [RCV001680670] Chr15:48230533 [GRCh38]
Chr15:48522730 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.1161T>C (p.Phe387=) single nucleotide variant Bartter disease type 1 [RCV001121895]|not provided [RCV000905267] Chr15:48234950 [GRCh38]
Chr15:48527147 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_000338.3(SLC12A1):c.3054G>A (p.Pro1018=) single nucleotide variant Bartter disease type 1 [RCV001118559]|not provided [RCV000931235] Chr15:48299233 [GRCh38]
Chr15:48591430 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_000338.3(SLC12A1):c.1561-8T>G single nucleotide variant Bartter disease type 1 [RCV002502835]|not provided [RCV000928651] Chr15:48247329 [GRCh38]
Chr15:48539526 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.552+10C>A single nucleotide variant not provided [RCV000897798] Chr15:48220775 [GRCh38]
Chr15:48512972 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.354C>T (p.Thr118=) single nucleotide variant not provided [RCV000930002] Chr15:48208073 [GRCh38]
Chr15:48500270 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2160G>A (p.Pro720=) single nucleotide variant Bartter disease type 1 [RCV001119994]|SLC12A1-related condition [RCV003940568]|not provided [RCV000887001] Chr15:48267566 [GRCh38]
Chr15:48559763 [GRCh37]
Chr15:15q21.1		 benign|likely benign
NM_000338.3(SLC12A1):c.1476C>T (p.Phe492=) single nucleotide variant not provided [RCV000917624] Chr15:48246932 [GRCh38]
Chr15:48539129 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.695C>T (p.Ala232Val) single nucleotide variant Bartter disease type 1 [RCV001121889]|not provided [RCV000966336] Chr15:48226542 [GRCh38]
Chr15:48518739 [GRCh37]
Chr15:15q21.1		 benign|likely benign
NM_000338.3(SLC12A1):c.2281C>A (p.Arg761=) single nucleotide variant Bartter disease type 1 [RCV002502858]|not provided [RCV000933446] Chr15:48267687 [GRCh38]
Chr15:48559884 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.201G>A (p.Gln67=) single nucleotide variant not provided [RCV000932244] Chr15:48207920 [GRCh38]
Chr15:48500117 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.463G>A (p.Gly155Ser) single nucleotide variant Bartter disease type 1 [RCV001119910]|not provided [RCV002556561] Chr15:48220676 [GRCh38]
Chr15:48512873 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2155-10T>A single nucleotide variant Bartter disease type 1 [RCV001119993] Chr15:48267551 [GRCh38]
Chr15:48559748 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2468A>C (p.Gln823Pro) single nucleotide variant Bartter disease type 1 [RCV001120295] Chr15:48274636 [GRCh38]
Chr15:48566833 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2825G>C (p.Arg942Thr) single nucleotide variant Bartter disease type 1 [RCV001115406]|Inborn genetic diseases [RCV002556268] Chr15:48288468 [GRCh38]
Chr15:48580665 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2573G>T (p.Arg858Leu) single nucleotide variant Bartter disease type 1 [RCV002480841]|not provided [RCV001246668] Chr15:48285193 [GRCh38]
Chr15:48577390 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2869dup (p.Ile957fs) duplication not provided [RCV000992999] Chr15:48288506..48288507 [GRCh38]
Chr15:48580703..48580704 [GRCh37]
Chr15:15q21.1		 pathogenic|likely pathogenic
NM_000338.3(SLC12A1):c.1943-175A>G single nucleotide variant not provided [RCV001545129] Chr15:48255636 [GRCh38]
Chr15:48547833 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.725-271T>G single nucleotide variant not provided [RCV001597645] Chr15:48228918 [GRCh38]
Chr15:48521115 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.1685-292dup duplication not provided [RCV001677264] Chr15:48249280..48249281 [GRCh38]
Chr15:48541477..48541478 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.2961-305A>G single nucleotide variant not provided [RCV001593721] Chr15:48298835 [GRCh38]
Chr15:48591032 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1685-259A>G single nucleotide variant not provided [RCV001676202] Chr15:48249316 [GRCh38]
Chr15:48541513 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.1088-112dup duplication not provided [RCV001635971] Chr15:48234752..48234753 [GRCh38]
Chr15:48526949..48526950 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.3097-261T>G single nucleotide variant not provided [RCV001689394] Chr15:48301054 [GRCh38]
Chr15:48593251 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.1453-126AAC[5] microsatellite not provided [RCV001695747] Chr15:48246782..48246783 [GRCh38]
Chr15:48538979..48538980 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.1453-322C>A single nucleotide variant not provided [RCV001695902] Chr15:48246587 [GRCh38]
Chr15:48538784 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.3165-101_3165-100dup duplication not provided [RCV001677873] Chr15:48302626..48302627 [GRCh38]
Chr15:48594823..48594824 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.1453-63G>A single nucleotide variant not provided [RCV001536543] Chr15:48246846 [GRCh38]
Chr15:48539043 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.2155-31G>A single nucleotide variant not provided [RCV001655990] Chr15:48267530 [GRCh38]
Chr15:48559727 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.-186-28C>T single nucleotide variant not provided [RCV001687654] Chr15:48207506 [GRCh38]
Chr15:48499703 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.2630-22A>T single nucleotide variant not provided [RCV001676255] Chr15:48288021 [GRCh38]
Chr15:48580218 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.1786+231G>A single nucleotide variant not provided [RCV001672365] Chr15:48249907 [GRCh38]
Chr15:48542104 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.2630-169T>C single nucleotide variant not provided [RCV001715181] Chr15:48287874 [GRCh38]
Chr15:48580071 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.2960+267T>G single nucleotide variant not provided [RCV001714889] Chr15:48292131 [GRCh38]
Chr15:48584328 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.628+159G>C single nucleotide variant not provided [RCV001673282] Chr15:48221155 [GRCh38]
Chr15:48513352 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.2486-109C>G single nucleotide variant not provided [RCV001598807] Chr15:48284997 [GRCh38]
Chr15:48577194 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.2296-124T>C single nucleotide variant not provided [RCV001687564] Chr15:48269534 [GRCh38]
Chr15:48561731 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.1684+149G>A single nucleotide variant not provided [RCV001720443] Chr15:48247609 [GRCh38]
Chr15:48539806 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.462C>T (p.Asn154=) single nucleotide variant Bartter disease type 1 [RCV001119909]|not provided [RCV002069946] Chr15:48220675 [GRCh38]
Chr15:48512872 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_000338.3(SLC12A1):c.-68G>T single nucleotide variant Bartter disease type 1 [RCV001118371] Chr15:48207652 [GRCh38]
Chr15:48499849 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.59G>A (p.Arg20His) single nucleotide variant Bartter disease type 1 [RCV001118372]|not provided [RCV001238984] Chr15:48207778 [GRCh38]
Chr15:48499975 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_000338.3(SLC12A1):c.2546A>G (p.Glu849Gly) single nucleotide variant Bartter disease type 1 [RCV001120297] Chr15:48285166 [GRCh38]
Chr15:48577363 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2737G>T (p.Val913Phe) single nucleotide variant not provided [RCV001093329] Chr15:48288150 [GRCh38]
Chr15:48580347 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.724+15A>T single nucleotide variant Bartter disease type 1 [RCV001121891]|not provided [RCV003769184] Chr15:48226586 [GRCh38]
Chr15:48518783 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_000338.3(SLC12A1):c.760C>G (p.Pro254Ala) single nucleotide variant Bartter disease type 1 [RCV001121892]|not provided [RCV002558206] Chr15:48229224 [GRCh38]
Chr15:48521421 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.1117C>T (p.Arg373Cys) single nucleotide variant Bartter disease type 1 [RCV001121894] Chr15:48234906 [GRCh38]
Chr15:48527103 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.1453-268C>T single nucleotide variant not provided [RCV001567786] Chr15:48246641 [GRCh38]
Chr15:48538838 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.3206T>G (p.Leu1069Trp) single nucleotide variant Bartter disease type 1 [RCV001120090] Chr15:48302791 [GRCh38]
Chr15:48594988 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.*40C>T single nucleotide variant Bartter disease type 1 [RCV001120091] Chr15:48302925 [GRCh38]
Chr15:48595122 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.3165-174T>C single nucleotide variant not provided [RCV001613876] Chr15:48302576 [GRCh38]
Chr15:48594773 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.628+146T>C single nucleotide variant not provided [RCV001616856] Chr15:48221142 [GRCh38]
Chr15:48513339 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.2296-21A>G single nucleotide variant Bartter disease type 1 [RCV001807503]|not provided [RCV001684509] Chr15:48269637 [GRCh38]
Chr15:48561834 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.1943-255G>A single nucleotide variant not provided [RCV001693356] Chr15:48255556 [GRCh38]
Chr15:48547753 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.1300+105G>A single nucleotide variant not provided [RCV001645144] Chr15:48241704 [GRCh38]
Chr15:48533901 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.1943-32T>C single nucleotide variant not provided [RCV001694911] Chr15:48255779 [GRCh38]
Chr15:48547976 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.2195T>A (p.Met732Lys) single nucleotide variant Bartter disease type 1 [RCV001119995] Chr15:48267601 [GRCh38]
Chr15:48559798 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.3165-5A>T single nucleotide variant Bartter disease type 1 [RCV001120089]|not provided [RCV003718341] Chr15:48302745 [GRCh38]
Chr15:48594942 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_000338.3(SLC12A1):c.2272G>C (p.Asp758His) single nucleotide variant Bartter disease type 1 [RCV001120293] Chr15:48267678 [GRCh38]
Chr15:48559875 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2528C>T (p.Ala843Val) single nucleotide variant Bartter disease type 1 [RCV001120296] Chr15:48285148 [GRCh38]
Chr15:48577345 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.1687dup (p.Glu563fs) duplication not provided [RCV001050978] Chr15:48249575..48249576 [GRCh38]
Chr15:48541772..48541773 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.1536T>C (p.Leu512=) single nucleotide variant Bartter disease type 1 [RCV001115322]|not provided [RCV002069856] Chr15:48246992 [GRCh38]
Chr15:48539189 [GRCh37]
Chr15:15q21.1		 benign|uncertain significance
NM_000338.3(SLC12A1):c.*436C>G single nucleotide variant Bartter disease type 1 [RCV001115500] Chr15:48303321 [GRCh38]
Chr15:48595518 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.1468T>G (p.Ser490Ala) single nucleotide variant Bartter disease type 1 [RCV001196861] Chr15:48246924 [GRCh38]
Chr15:48539121 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.716T>C (p.Val239Ala) single nucleotide variant Bartter disease type 1 [RCV001121890] Chr15:48226563 [GRCh38]
Chr15:48518760 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.3103C>A (p.Arg1035Ser) single nucleotide variant Bartter disease type 1 [RCV001118560] Chr15:48301321 [GRCh38]
Chr15:48593518 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.1216-13T>A single nucleotide variant Bartter disease type 1 [RCV001115319]|not provided [RCV002556263] Chr15:48241502 [GRCh38]
Chr15:48533699 [GRCh37]
Chr15:15q21.1		 benign|likely benign
NM_000338.3(SLC12A1):c.1686G>A (p.Ala562=) single nucleotide variant Bartter disease type 1 [RCV001115323]|not provided [RCV001856515] Chr15:48249576 [GRCh38]
Chr15:48541773 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.1832_1833del (p.Phe611fs) deletion Bartter disease type 1 [RCV001253066] Chr15:48251657..48251658 [GRCh38]
Chr15:48543854..48543855 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.725-285G>A single nucleotide variant not provided [RCV001538176] Chr15:48228904 [GRCh38]
Chr15:48521101 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.513A>C (p.Gln171His) single nucleotide variant Bartter disease type 1 [RCV002480935]|Inborn genetic diseases [RCV003246834]|not provided [RCV001288427] Chr15:48220726 [GRCh38]
Chr15:48512923 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.1300+5G>A single nucleotide variant Bartter disease type 1 [RCV001329191] Chr15:48241604 [GRCh38]
Chr15:48533801 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.1834G>A (p.Gly612Arg) single nucleotide variant Bartter disease type 1 [RCV001329192] Chr15:48251662 [GRCh38]
Chr15:48543859 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_000338.3(SLC12A1):c.2470G>A (p.Val824Ile) single nucleotide variant not provided [RCV001340564] Chr15:48274638 [GRCh38]
Chr15:48566835 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.1431C>T (p.Tyr477=) single nucleotide variant not provided [RCV001396529] Chr15:48244883 [GRCh38]
Chr15:48537080 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2716C>T (p.Gln906Ter) single nucleotide variant not provided [RCV001383090] Chr15:48288129 [GRCh38]
Chr15:48580326 [GRCh37]
Chr15:15q21.1		 pathogenic|likely pathogenic
NM_000338.3(SLC12A1):c.3160G>A (p.Val1054Ile) single nucleotide variant not provided [RCV001288426] Chr15:48301378 [GRCh38]
Chr15:48593575 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.26T>C (p.Val9Ala) single nucleotide variant not provided [RCV001365018] Chr15:48207745 [GRCh38]
Chr15:48499942 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2282G>A (p.Arg761Gln) single nucleotide variant Bartter disease type 1 [RCV001336801] Chr15:48267688 [GRCh38]
Chr15:48559885 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2939A>T (p.Asn980Ile) single nucleotide variant not provided [RCV001345304] Chr15:48291843 [GRCh38]
Chr15:48584040 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.610G>T (p.Val204Phe) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001328097] Chr15:48220978 [GRCh38]
Chr15:48513175 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.1118G>A (p.Arg373His) single nucleotide variant Inborn genetic diseases [RCV002547384]|not provided [RCV001339238] Chr15:48234907 [GRCh38]
Chr15:48527104 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2534T>C (p.Ile845Thr) single nucleotide variant not provided [RCV001347879] Chr15:48285154 [GRCh38]
Chr15:48577351 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.1355G>C (p.Gly452Ala) single nucleotide variant Bartter disease type 1 [RCV002499682]|not provided [RCV001343304] Chr15:48244807 [GRCh38]
Chr15:48537004 [GRCh37]
Chr15:15q21.1		 uncertain significance
NC_000015.9:g.(?_32964879)_(91358519_?)dup duplication Bloom syndrome [RCV001343104]|Familial colorectal cancer [RCV001325176] Chr15:32964879..91358519 [GRCh37]
Chr15:15q13.3-26.1		 uncertain significance
NM_000338.3(SLC12A1):c.477T>C (p.Pro159=) single nucleotide variant not provided [RCV001413711] Chr15:48220690 [GRCh38]
Chr15:48512887 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2851C>T (p.Arg951Cys) single nucleotide variant not provided [RCV001359443] Chr15:48288494 [GRCh38]
Chr15:48580691 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.1981G>A (p.Val661Met) single nucleotide variant Bartter disease type 1 [RCV002499578]|not provided [RCV001305909] Chr15:48255849 [GRCh38]
Chr15:48548046 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.760C>T (p.Pro254Ser) single nucleotide variant Bartter disease type 1 [RCV003333151]|not provided [RCV001327246] Chr15:48229224 [GRCh38]
Chr15:48521421 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.1970C>T (p.Ala657Val) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001328100] Chr15:48255838 [GRCh38]
Chr15:48548035 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.1426C>G (p.Gln476Glu) single nucleotide variant Inborn genetic diseases [RCV002547704]|not provided [RCV001358937] Chr15:48244878 [GRCh38]
Chr15:48537075 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2762-13T>C single nucleotide variant not provided [RCV001505704] Chr15:48288392 [GRCh38]
Chr15:48580589 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2287C>G (p.Leu763Val) single nucleotide variant not provided [RCV001405071] Chr15:48267693 [GRCh38]
Chr15:48559890 [GRCh37]
Chr15:15q21.1		 likely benign|conflicting interpretations of pathogenicity
NM_000338.3(SLC12A1):c.1685-237dup duplication not provided [RCV001536223] Chr15:48249337..48249338 [GRCh38]
Chr15:48541534..48541535 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.2042+244G>A single nucleotide variant not provided [RCV001540100] Chr15:48256154 [GRCh38]
Chr15:48548351 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.3164+1G>A single nucleotide variant Bartter disease type 1 [RCV001535850]|not provided [RCV001379160] Chr15:48301383 [GRCh38]
Chr15:48593580 [GRCh37]
Chr15:15q21.1		 pathogenic|likely pathogenic
NM_000338.3(SLC12A1):c.2762-29A>T single nucleotide variant not provided [RCV001534913] Chr15:48288376 [GRCh38]
Chr15:48580573 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.1405A>T (p.Arg469Ter) single nucleotide variant not provided [RCV001382131] Chr15:48244857 [GRCh38]
Chr15:48537054 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.2296-157C>T single nucleotide variant not provided [RCV001666343] Chr15:48269501 [GRCh38]
Chr15:48561698 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.3164+275T>C single nucleotide variant not provided [RCV001710893] Chr15:48301657 [GRCh38]
Chr15:48593854 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.1685-72G>A single nucleotide variant not provided [RCV001608838] Chr15:48249503 [GRCh38]
Chr15:48541700 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.3165-103_3165-100dup duplication not provided [RCV001673568] Chr15:48302626..48302627 [GRCh38]
Chr15:48594823..48594824 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.3164+130A>G single nucleotide variant not provided [RCV001671999] Chr15:48301512 [GRCh38]
Chr15:48593709 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.1786+154G>A single nucleotide variant not provided [RCV001710892] Chr15:48249830 [GRCh38]
Chr15:48542027 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.3165-100dup duplication not provided [RCV001616461] Chr15:48302626..48302627 [GRCh38]
Chr15:48594823..48594824 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.2223G>A (p.Lys741=) single nucleotide variant Bartter disease type 1 [RCV002495686]|not provided [RCV001467332] Chr15:48267629 [GRCh38]
Chr15:48559826 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2873+1G>T single nucleotide variant not provided [RCV001379265] Chr15:48288517 [GRCh38]
Chr15:48580714 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_000338.3(SLC12A1):c.2805dup (p.Trp936fs) duplication Bartter disease type 1 [RCV001730161]|not provided [RCV003728003] Chr15:48288441..48288442 [GRCh38]
Chr15:48580638..48580639 [GRCh37]
Chr15:15q21.1		 pathogenic|likely pathogenic
NM_000338.3(SLC12A1):c.2653T>C (p.Ser885Pro) single nucleotide variant Bartter disease type 1 [RCV001728085] Chr15:48288066 [GRCh38]
Chr15:48580263 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.595C>T (p.Arg199Cys) single nucleotide variant not specified [RCV002240083] Chr15:48220963 [GRCh38]
Chr15:48513160 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2882C>T (p.Ser961Phe) single nucleotide variant not provided [RCV001761307] Chr15:48291786 [GRCh38]
Chr15:48583983 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.1679T>C (p.Leu560Pro) single nucleotide variant Bartter disease type 1 [RCV001775425] Chr15:48247455 [GRCh38]
Chr15:48539652 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_000338.3(SLC12A1):c.382C>T (p.Arg128Ter) single nucleotide variant Bartter disease type 1 [RCV001775431]|not provided [RCV002034502] Chr15:48208101 [GRCh38]
Chr15:48500298 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.64C>T (p.Gln22Ter) single nucleotide variant not provided [RCV003716206] Chr15:48207783 [GRCh38]
Chr15:48499980 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.2042+2T>A single nucleotide variant Bartter disease type 1 [RCV001784972]|not provided [RCV003772143] Chr15:48255912 [GRCh38]
Chr15:48548109 [GRCh37]
Chr15:15q21.1		 pathogenic|likely pathogenic
NM_000338.3(SLC12A1):c.200A>G (p.Gln67Arg) single nucleotide variant not provided [RCV001806946] Chr15:48207919 [GRCh38]
Chr15:48500116 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2584A>T (p.Lys862Ter) single nucleotide variant not provided [RCV001814391] Chr15:48285204 [GRCh38]
Chr15:48577401 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.1927del (p.Thr643fs) deletion Bartter disease type 1 [RCV001808289] Chr15:48251755 [GRCh38]
Chr15:48543952 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_000338.3(SLC12A1):c.3053C>T (p.Pro1018Leu) single nucleotide variant Bartter disease type 1 [RCV002492078]|not provided [RCV001985386] Chr15:48299232 [GRCh38]
Chr15:48591429 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.1099G>A (p.Ala367Thr) single nucleotide variant Inborn genetic diseases [RCV003348695]|not provided [RCV001966312] Chr15:48234888 [GRCh38]
Chr15:48527085 [GRCh37]
Chr15:15q21.1		 uncertain significance
GRCh37/hg19 15q21.1(chr15:48149321-48522259)x3 copy number gain not provided [RCV001829046] Chr15:48149321..48522259 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2873_2873+1delinsCC indel not provided [RCV002020978] Chr15:48288516..48288517 [GRCh38]
Chr15:48580713..48580714 [GRCh37]
Chr15:15q21.1		 likely pathogenic
GRCh37/hg19 15q21.1-21.3(chr15:47635238-56509908) copy number loss not specified [RCV002052472] Chr15:47635238..56509908 [GRCh37]
Chr15:15q21.1-21.3		 pathogenic
NM_000338.3(SLC12A1):c.1103A>G (p.Glu368Gly) single nucleotide variant Bartter disease type 1 [RCV002246590]|not provided [RCV001909397] Chr15:48234892 [GRCh38]
Chr15:48527089 [GRCh37]
Chr15:15q21.1		 pathogenic|uncertain significance
NM_000338.3(SLC12A1):c.2654C>T (p.Ser885Leu) single nucleotide variant Bartter disease type 1 [RCV002484707]|not provided [RCV001965498] Chr15:48288067 [GRCh38]
Chr15:48580264 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.425T>C (p.Val142Ala) single nucleotide variant not provided [RCV001911790] Chr15:48220638 [GRCh38]
Chr15:48512835 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2873_2873+1inv inversion not provided [RCV001966845] Chr15:48288516..48288517 [GRCh38]
Chr15:48580713..48580714 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_000338.3(SLC12A1):c.223C>T (p.Gln75Ter) single nucleotide variant Bartter disease type 1 [RCV001837610]|not provided [RCV002542810] Chr15:48207942 [GRCh38]
Chr15:48500139 [GRCh37]
Chr15:15q21.1		 pathogenic
GRCh37/hg19 15q21.1-21.2(chr15:47574384-50369056) copy number loss not specified [RCV002052470] Chr15:47574384..50369056 [GRCh37]
Chr15:15q21.1-21.2		 pathogenic
NM_000338.3(SLC12A1):c.718C>T (p.Arg240Cys) single nucleotide variant not provided [RCV001968765] Chr15:48226565 [GRCh38]
Chr15:48518762 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.3199G>T (p.Asp1067Tyr) single nucleotide variant not provided [RCV002041884] Chr15:48302784 [GRCh38]
Chr15:48594981 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.394C>T (p.Leu132Phe) single nucleotide variant Bartter disease type 1 [RCV002492201]|not provided [RCV002007863] Chr15:48208113 [GRCh38]
Chr15:48500310 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2652G>C (p.Gln884His) single nucleotide variant not provided [RCV001964136] Chr15:48288065 [GRCh38]
Chr15:48580262 [GRCh37]
Chr15:15q21.1		 uncertain significance
GRCh37/hg19 15q21.1(chr15:48179968-48727846)x1 copy number loss not provided [RCV001834448] Chr15:48179968..48727846 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.2618C>T (p.Thr873Met) single nucleotide variant not provided [RCV001928581] Chr15:48285238 [GRCh38]
Chr15:48577435 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.3165-109_3165-100dup duplication not provided [RCV001847419] Chr15:48302626..48302627 [GRCh38]
Chr15:48594823..48594824 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1316G>A (p.Arg439Gln) single nucleotide variant Bartter disease type 1 [RCV001843848]|not provided [RCV002543285] Chr15:48244768 [GRCh38]
Chr15:48536965 [GRCh37]
Chr15:15q21.1		 pathogenic|likely pathogenic
GRCh37/hg19 15q15.2-21.2(chr15:42850434-49592633) copy number loss not specified [RCV002052466] Chr15:42850434..49592633 [GRCh37]
Chr15:15q15.2-21.2		 pathogenic
NM_000338.3(SLC12A1):c.1603G>A (p.Ala535Thr) single nucleotide variant not provided [RCV001871122] Chr15:48247379 [GRCh38]
Chr15:48539576 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2220A>G (p.Ile740Met) single nucleotide variant not provided [RCV002002004] Chr15:48267626 [GRCh38]
Chr15:48559823 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.1168G>A (p.Ala390Thr) single nucleotide variant not provided [RCV001847401] Chr15:48234957 [GRCh38]
Chr15:48527154 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.281A>G (p.Asn94Ser) single nucleotide variant not provided [RCV001967892] Chr15:48208000 [GRCh38]
Chr15:48500197 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2953A>G (p.Lys985Glu) single nucleotide variant Bartter disease type 1 [RCV002497952]|not provided [RCV001995918] Chr15:48291857 [GRCh38]
Chr15:48584054 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.3004G>A (p.Glu1002Lys) single nucleotide variant not provided [RCV001941377] Chr15:48299183 [GRCh38]
Chr15:48591380 [GRCh37]
Chr15:15q21.1		 uncertain significance
NC_000015.9:g.(?_48426485)_(48730124_?)del deletion Marfan syndrome [RCV001941947] Chr15:48426485..48730124 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.2755G>C (p.Asp919His) single nucleotide variant not provided [RCV001937925]|not specified [RCV002271697] Chr15:48288168 [GRCh38]
Chr15:48580365 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2852G>A (p.Arg951His) single nucleotide variant Bartter disease type 1 [RCV002482593]|not provided [RCV001883013] Chr15:48288495 [GRCh38]
Chr15:48580692 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2393G>A (p.Gly798Glu) single nucleotide variant not provided [RCV002050497] Chr15:48269755 [GRCh38]
Chr15:48561952 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.994G>A (p.Val332Ile) single nucleotide variant not provided [RCV002026990] Chr15:48232745 [GRCh38]
Chr15:48524942 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2294A>G (p.Gln765Arg) single nucleotide variant not provided [RCV001994078] Chr15:48267700 [GRCh38]
Chr15:48559897 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.1592T>C (p.Leu531Pro) single nucleotide variant not provided [RCV001995873] Chr15:48247368 [GRCh38]
Chr15:48539565 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2362G>A (p.Ala788Thr) single nucleotide variant not provided [RCV002029333] Chr15:48269724 [GRCh38]
Chr15:48561921 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.1614_1615inv (p.Gly539Arg) inversion not provided [RCV001978461] Chr15:48247390..48247391 [GRCh38]
Chr15:48539587..48539588 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.118A>G (p.Thr40Ala) single nucleotide variant Bartter disease type 1 [RCV002490090]|not provided [RCV001885667] Chr15:48207837 [GRCh38]
Chr15:48500034 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2161C>G (p.Arg721Gly) single nucleotide variant Inborn genetic diseases [RCV002569318]|not provided [RCV001975615] Chr15:48267567 [GRCh38]
Chr15:48559764 [GRCh37]
Chr15:15q21.1		 uncertain significance
NC_000015.9:g.(?_48547988)_(48548127_?)del deletion not provided [RCV001956238] Chr15:48547988..48548127 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.3082G>A (p.Ala1028Thr) single nucleotide variant not provided [RCV002035865] Chr15:48299261 [GRCh38]
Chr15:48591458 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2194A>G (p.Met732Val) single nucleotide variant not provided [RCV001981500] Chr15:48267600 [GRCh38]
Chr15:48559797 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.3256C>A (p.Leu1086Ile) single nucleotide variant Bartter disease type 1 [RCV002478129]|not provided [RCV001878239] Chr15:48302841 [GRCh38]
Chr15:48595038 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.110A>G (p.Asp37Gly) single nucleotide variant not provided [RCV002028321] Chr15:48207829 [GRCh38]
Chr15:48500026 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.528G>C (p.Lys176Asn) single nucleotide variant not provided [RCV001936257] Chr15:48220741 [GRCh38]
Chr15:48512938 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2507A>T (p.Gln836Leu) single nucleotide variant Bartter disease type 1 [RCV002506995]|not provided [RCV001918092] Chr15:48285127 [GRCh38]
Chr15:48577324 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2206C>A (p.Gln736Lys) single nucleotide variant Bartter disease type 1 [RCV002486563]|not provided [RCV002010075] Chr15:48267612 [GRCh38]
Chr15:48559809 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.1432G>A (p.Gly478Arg) single nucleotide variant Bartter disease type 1 [RCV003225202]|not provided [RCV001937924] Chr15:48244884 [GRCh38]
Chr15:48537081 [GRCh37]
Chr15:15q21.1		 pathogenic|uncertain significance
NM_000338.3(SLC12A1):c.724+20T>C single nucleotide variant not provided [RCV002126215] Chr15:48226591 [GRCh38]
Chr15:48518788 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.864+13T>C single nucleotide variant not provided [RCV002208806] Chr15:48229341 [GRCh38]
Chr15:48521538 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1278C>T (p.Tyr426=) single nucleotide variant not provided [RCV002125673] Chr15:48241577 [GRCh38]
Chr15:48533774 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2481G>A (p.Val827=) single nucleotide variant not provided [RCV002213196]|not specified [RCV003151383] Chr15:48274649 [GRCh38]
Chr15:48566846 [GRCh37]
Chr15:15q21.1		 benign|likely benign
NM_000338.3(SLC12A1):c.2095G>A (p.Asp699Asn) single nucleotide variant Bartter disease type 1 [RCV002508014]|not provided [RCV002132008] Chr15:48259252 [GRCh38]
Chr15:48551449 [GRCh37]
Chr15:15q21.1		 benign|likely benign
NM_000338.3(SLC12A1):c.3108A>G (p.Gln1036=) single nucleotide variant not provided [RCV002113545] Chr15:48301326 [GRCh38]
Chr15:48593523 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1653T>G (p.Thr551=) single nucleotide variant Bartter disease type 1 [RCV002494417]|not provided [RCV002125718] Chr15:48247429 [GRCh38]
Chr15:48539626 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1300+11C>T single nucleotide variant not provided [RCV002174690] Chr15:48241610 [GRCh38]
Chr15:48533807 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.421-15A>G single nucleotide variant Bartter disease type 1 [RCV002494306]|not provided [RCV002134699] Chr15:48220619 [GRCh38]
Chr15:48512816 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1560+17A>C single nucleotide variant not provided [RCV002092243] Chr15:48247033 [GRCh38]
Chr15:48539230 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2403-7C>T single nucleotide variant not provided [RCV002147131] Chr15:48274564 [GRCh38]
Chr15:48566761 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2043-17C>A single nucleotide variant not provided [RCV002175924] Chr15:48259183 [GRCh38]
Chr15:48551380 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1560+15A>G single nucleotide variant not provided [RCV002140654] Chr15:48247031 [GRCh38]
Chr15:48539228 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.900C>T (p.Asp300=) single nucleotide variant not provided [RCV002218772] Chr15:48230428 [GRCh38]
Chr15:48522625 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.3165-18T>A single nucleotide variant not provided [RCV002198292] Chr15:48302732 [GRCh38]
Chr15:48594929 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1786+18C>T single nucleotide variant Bartter disease type 1 [RCV002498122]|not provided [RCV002162242] Chr15:48249694 [GRCh38]
Chr15:48541891 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1215+7T>C single nucleotide variant not provided [RCV002101629] Chr15:48235011 [GRCh38]
Chr15:48527208 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2089C>T (p.Leu697Phe) single nucleotide variant Inborn genetic diseases [RCV003162107]|not provided [RCV003110010] Chr15:48259246 [GRCh38]
Chr15:48551443 [GRCh37]
Chr15:15q21.1		 uncertain significance
NC_000015.9:g.(?_48577283)_(48577466_?)del deletion not provided [RCV003111059] Chr15:48577283..48577466 [GRCh37]
Chr15:15q21.1		 uncertain significance
NC_000015.9:g.(?_48541752)_(48543987_?)del deletion not provided [RCV003111060] Chr15:48541752..48543987 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.762C>T (p.Pro254=) single nucleotide variant not provided [RCV003111800] Chr15:48229226 [GRCh38]
Chr15:48521423 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2281C>T (p.Arg761Ter) single nucleotide variant not provided [RCV003120427] Chr15:48267687 [GRCh38]
Chr15:48559884 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.1652C>T (p.Thr551Ile) single nucleotide variant Bartter disease type 1 [RCV002251235] Chr15:48247428 [GRCh38]
Chr15:48539625 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.1307G>A (p.Cys436Tyr) single nucleotide variant Bartter disease type 1 [RCV003152888] Chr15:48244759 [GRCh38]
Chr15:48536956 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.864+19T>C single nucleotide variant not provided [RCV003666200] Chr15:48229347 [GRCh38]
Chr15:48521544 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1414C>T (p.His472Tyr) single nucleotide variant not provided [RCV002283336] Chr15:48244866 [GRCh38]
Chr15:48537063 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.-186-75T>A single nucleotide variant not provided [RCV002285619] Chr15:48207459 [GRCh38]
Chr15:48499656 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1685-2A>G single nucleotide variant Bartter syndrome [RCV002282821]|Inborn genetic diseases [RCV003289497]|not provided [RCV003698899] Chr15:48249573 [GRCh38]
Chr15:48541770 [GRCh37]
Chr15:15q21.1		 likely pathogenic|uncertain significance
NM_000338.3(SLC12A1):c.595C>G (p.Arg199Gly) single nucleotide variant Bartter disease type 1 [RCV002287282]|not provided [RCV003097720] Chr15:48220963 [GRCh38]
Chr15:48513160 [GRCh37]
Chr15:15q21.1		 likely pathogenic|uncertain significance
NM_000338.3(SLC12A1):c.629-164G>A single nucleotide variant not provided [RCV002285808] Chr15:48226312 [GRCh38]
Chr15:48518509 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.572T>A (p.Ile191Asn) single nucleotide variant Bartter disease type 1 [RCV002287281] Chr15:48220940 [GRCh38]
Chr15:48513137 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_000338.3(SLC12A1):c.2066G>A (p.Gly689Glu) single nucleotide variant Bartter disease type 1 [RCV003148420] Chr15:48259223 [GRCh38]
Chr15:48551420 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.1610G>C (p.Gly537Ala) single nucleotide variant Bartter disease type 1 [RCV003152895] Chr15:48247386 [GRCh38]
Chr15:48539583 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.1757G>A (p.Cys586Tyr) single nucleotide variant Bartter disease type 1 [RCV003153176] Chr15:48249647 [GRCh38]
Chr15:48541844 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2541T>A (p.Asp847Glu) single nucleotide variant Inborn genetic diseases [RCV002772607] Chr15:48285161 [GRCh38]
Chr15:48577358 [GRCh37]
Chr15:15q21.1		 uncertain significance
GRCh37/hg19 15q21.1-22.2(chr15:48589845-63543438)x3 copy number gain not provided [RCV002472512] Chr15:48589845..63543438 [GRCh37]
Chr15:15q21.1-22.2		 pathogenic
NM_000338.3(SLC12A1):c.1511C>T (p.Thr504Ile) single nucleotide variant Bartter disease type 1 [RCV002470358] Chr15:48246967 [GRCh38]
Chr15:48539164 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.421-1G>A single nucleotide variant Bartter syndrome [RCV002469972] Chr15:48220633 [GRCh38]
Chr15:48512830 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_000338.3(SLC12A1):c.1142T>C (p.Phe381Ser) single nucleotide variant not provided [RCV002295999] Chr15:48234931 [GRCh38]
Chr15:48527128 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2761+2dup duplication not specified [RCV002302462] Chr15:48288175..48288176 [GRCh38]
Chr15:48580372..48580373 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2944A>G (p.Arg982Gly) single nucleotide variant Inborn genetic diseases [RCV003289508]|not provided [RCV002296743] Chr15:48291848 [GRCh38]
Chr15:48584045 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2154G>C (p.Val718=) single nucleotide variant Inborn genetic diseases [RCV002840093] Chr15:48259311 [GRCh38]
Chr15:48551508 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2873T>G (p.Val958Gly) single nucleotide variant not provided [RCV003032840] Chr15:48288516 [GRCh38]
Chr15:48580713 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2486-5A>G single nucleotide variant not provided [RCV002618880] Chr15:48285101 [GRCh38]
Chr15:48577298 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.588C>T (p.Leu196=) single nucleotide variant not provided [RCV003034048] Chr15:48220956 [GRCh38]
Chr15:48513153 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2138G>A (p.Cys713Tyr) single nucleotide variant not provided [RCV002843855] Chr15:48259295 [GRCh38]
Chr15:48551492 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.88C>G (p.His30Asp) single nucleotide variant Inborn genetic diseases [RCV002766216]|not provided [RCV002775283] Chr15:48207807 [GRCh38]
Chr15:48500004 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.1986T>A (p.Ser662Arg) single nucleotide variant not provided [RCV002947235] Chr15:48255854 [GRCh38]
Chr15:48548051 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.1455C>G (p.Val485=) single nucleotide variant not provided [RCV002863854] Chr15:48246911 [GRCh38]
Chr15:48539108 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.960G>C (p.Met320Ile) single nucleotide variant not provided [RCV003034943] Chr15:48230488 [GRCh38]
Chr15:48522685 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2873+2dup duplication not provided [RCV003017338] Chr15:48288517..48288518 [GRCh38]
Chr15:48580714..48580715 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.696G>A (p.Ala232=) single nucleotide variant not provided [RCV002755568] Chr15:48226543 [GRCh38]
Chr15:48518740 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2108C>A (p.Ala703Asp) single nucleotide variant not provided [RCV002730232] Chr15:48259265 [GRCh38]
Chr15:48551462 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.1315C>T (p.Arg439Ter) single nucleotide variant not provided [RCV002616625] Chr15:48244767 [GRCh38]
Chr15:48536964 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.864+11G>C single nucleotide variant not provided [RCV002858679] Chr15:48229339 [GRCh38]
Chr15:48521536 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.487C>G (p.Gln163Glu) single nucleotide variant not provided [RCV002842135] Chr15:48220700 [GRCh38]
Chr15:48512897 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2043-19A>G single nucleotide variant not provided [RCV002617338] Chr15:48259181 [GRCh38]
Chr15:48551378 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1098T>C (p.Phe366=) single nucleotide variant not provided [RCV003032641] Chr15:48234887 [GRCh38]
Chr15:48527084 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1918G>A (p.Val640Ile) single nucleotide variant not provided [RCV002771170] Chr15:48251746 [GRCh38]
Chr15:48543943 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2661T>C (p.His887=) single nucleotide variant not provided [RCV002904438] Chr15:48288074 [GRCh38]
Chr15:48580271 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.3174C>T (p.Pro1058=) single nucleotide variant not provided [RCV002775363] Chr15:48302759 [GRCh38]
Chr15:48594956 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1464_1471delinsATCAT (p.Met488_Gly491delinsIleSerTrp) indel not provided [RCV002613495] Chr15:48246920..48246927 [GRCh38]
Chr15:48539117..48539124 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2346G>T (p.Lys782Asn) single nucleotide variant Inborn genetic diseases [RCV002860181] Chr15:48269708 [GRCh38]
Chr15:48561905 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.1892C>G (p.Thr631Ser) single nucleotide variant Inborn genetic diseases [RCV002732711] Chr15:48251720 [GRCh38]
Chr15:48543917 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2159C>T (p.Pro720Leu) single nucleotide variant not provided [RCV002755936] Chr15:48267565 [GRCh38]
Chr15:48559762 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2109C>T (p.Ala703=) single nucleotide variant not provided [RCV002953650] Chr15:48259266 [GRCh38]
Chr15:48551463 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1605A>C (p.Ala535=) single nucleotide variant not provided [RCV003022094] Chr15:48247381 [GRCh38]
Chr15:48539578 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.3283T>G (p.Leu1095Val) single nucleotide variant not provided [RCV002927778] Chr15:48302868 [GRCh38]
Chr15:48595065 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.763G>A (p.Glu255Lys) single nucleotide variant Inborn genetic diseases [RCV002703632] Chr15:48229227 [GRCh38]
Chr15:48521424 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.1567T>C (p.Cys523Arg) single nucleotide variant not provided [RCV002825259] Chr15:48247343 [GRCh38]
Chr15:48539540 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2928C>T (p.Ile976=) single nucleotide variant not provided [RCV002637409] Chr15:48291832 [GRCh38]
Chr15:48584029 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1012A>G (p.Ile338Val) single nucleotide variant not provided [RCV002590367] Chr15:48232763 [GRCh38]
Chr15:48524960 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2264G>C (p.Cys755Ser) single nucleotide variant Inborn genetic diseases [RCV002781957] Chr15:48267670 [GRCh38]
Chr15:48559867 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2006A>C (p.Glu669Ala) single nucleotide variant Inborn genetic diseases [RCV002978251] Chr15:48255874 [GRCh38]
Chr15:48548071 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2475T>C (p.Leu825=) single nucleotide variant not provided [RCV003053816] Chr15:48274643 [GRCh38]
Chr15:48566840 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2976A>G (p.Glu992=) single nucleotide variant not provided [RCV003036009] Chr15:48299155 [GRCh38]
Chr15:48591352 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.552+16T>A single nucleotide variant not provided [RCV002781455] Chr15:48220781 [GRCh38]
Chr15:48512978 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2015C>T (p.Thr672Ile) single nucleotide variant not provided [RCV002695225] Chr15:48255883 [GRCh38]
Chr15:48548080 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.1301-14G>A single nucleotide variant not provided [RCV002662657] Chr15:48244739 [GRCh38]
Chr15:48536936 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_000338.3(SLC12A1):c.2741G>A (p.Trp914Ter) single nucleotide variant Bartter syndrome [RCV002510404]|not provided [RCV003689021] Chr15:48288154 [GRCh38]
Chr15:48580351 [GRCh37]
Chr15:15q21.1		 pathogenic|likely pathogenic
NM_000338.3(SLC12A1):c.1215+3A>G single nucleotide variant not provided [RCV003002435] Chr15:48235007 [GRCh38]
Chr15:48527204 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2195T>G (p.Met732Arg) single nucleotide variant not provided [RCV002889333] Chr15:48267601 [GRCh38]
Chr15:48559798 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.3270T>A (p.Asn1090Lys) single nucleotide variant not provided [RCV002796686] Chr15:48302855 [GRCh38]
Chr15:48595052 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2905A>C (p.Lys969Gln) single nucleotide variant not provided [RCV002932873] Chr15:48291809 [GRCh38]
Chr15:48584006 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2570T>A (p.Ile857Asn) single nucleotide variant Inborn genetic diseases [RCV003081903]|not provided [RCV003069403] Chr15:48285190 [GRCh38]
Chr15:48577387 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.949G>A (p.Val317Ile) single nucleotide variant not provided [RCV002623896] Chr15:48230477 [GRCh38]
Chr15:48522674 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.1764T>C (p.His588=) single nucleotide variant SLC12A1-related condition [RCV003916511]|not provided [RCV002700284] Chr15:48249654 [GRCh38]
Chr15:48541851 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2769A>G (p.Thr923=) single nucleotide variant not provided [RCV002595423] Chr15:48288412 [GRCh38]
Chr15:48580609 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1711A>G (p.Ile571Val) single nucleotide variant not provided [RCV003024198] Chr15:48249601 [GRCh38]
Chr15:48541798 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.1528G>A (p.Ala510Thr) single nucleotide variant Inborn genetic diseases [RCV002641545] Chr15:48246984 [GRCh38]
Chr15:48539181 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.414C>T (p.Leu138=) single nucleotide variant not provided [RCV002711357] Chr15:48208133 [GRCh38]
Chr15:48500330 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1166dup (p.Ala390fs) duplication not provided [RCV002664223] Chr15:48234952..48234953 [GRCh38]
Chr15:48527149..48527150 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.3096+9T>C single nucleotide variant not provided [RCV002623584] Chr15:48299284 [GRCh38]
Chr15:48591481 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.170G>C (p.Arg57Thr) single nucleotide variant Inborn genetic diseases [RCV002701793] Chr15:48207889 [GRCh38]
Chr15:48500086 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2687T>G (p.Val896Gly) single nucleotide variant not provided [RCV002710346] Chr15:48288100 [GRCh38]
Chr15:48580297 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.517G>A (p.Gly173Ser) single nucleotide variant Inborn genetic diseases [RCV002645557] Chr15:48220730 [GRCh38]
Chr15:48512927 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.408_410del (p.Gln137del) deletion Inborn genetic diseases [RCV002742298] Chr15:48208126..48208128 [GRCh38]
Chr15:48500323..48500325 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.3065C>T (p.Thr1022Ile) single nucleotide variant Inborn genetic diseases [RCV002625573]|not provided [RCV002598200] Chr15:48299244 [GRCh38]
Chr15:48591441 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.50A>G (p.Asn17Ser) single nucleotide variant Inborn genetic diseases [RCV002698533]|SLC12A1-related condition [RCV003900920] Chr15:48207769 [GRCh38]
Chr15:48499966 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.950T>C (p.Val317Ala) single nucleotide variant Inborn genetic diseases [RCV002767911] Chr15:48230478 [GRCh38]
Chr15:48522675 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.1583A>G (p.Tyr528Cys) single nucleotide variant not provided [RCV002596550] Chr15:48247359 [GRCh38]
Chr15:48539556 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2878G>T (p.Ala960Ser) single nucleotide variant Inborn genetic diseases [RCV002873901] Chr15:48291782 [GRCh38]
Chr15:48583979 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.1301-15C>T single nucleotide variant not provided [RCV002596600] Chr15:48244738 [GRCh38]
Chr15:48536935 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.794C>T (p.Ala265Val) single nucleotide variant not provided [RCV002710235] Chr15:48229258 [GRCh38]
Chr15:48521455 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.1088-15T>C single nucleotide variant not provided [RCV002806111] Chr15:48234862 [GRCh38]
Chr15:48527059 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2107G>A (p.Ala703Thr) single nucleotide variant not provided [RCV003089800] Chr15:48259264 [GRCh38]
Chr15:48551461 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2155-2A>G single nucleotide variant not provided [RCV003049290] Chr15:48267559 [GRCh38]
Chr15:48559756 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_000338.3(SLC12A1):c.2288TTC[1] (p.Leu764del) microsatellite not provided [RCV003062935] Chr15:48267692..48267694 [GRCh38]
Chr15:48559889..48559891 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.1767C>T (p.Ala589=) single nucleotide variant not provided [RCV003030384] Chr15:48249657 [GRCh38]
Chr15:48541854 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2261A>G (p.Asp754Gly) single nucleotide variant not provided [RCV002628373] Chr15:48267667 [GRCh38]
Chr15:48559864 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.1800G>A (p.Ala600=) single nucleotide variant not provided [RCV002598954] Chr15:48251628 [GRCh38]
Chr15:48543825 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.325G>A (p.Val109Ile) single nucleotide variant Inborn genetic diseases [RCV002674446] Chr15:48208044 [GRCh38]
Chr15:48500241 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2233A>T (p.Lys745Ter) single nucleotide variant not provided [RCV002807265] Chr15:48267639 [GRCh38]
Chr15:48559836 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.2380G>C (p.Glu794Gln) single nucleotide variant not provided [RCV003009732] Chr15:48269742 [GRCh38]
Chr15:48561939 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2333T>C (p.Val778Ala) single nucleotide variant Inborn genetic diseases [RCV002877996] Chr15:48269695 [GRCh38]
Chr15:48561892 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2615C>G (p.Thr872Arg) single nucleotide variant not provided [RCV003027255] Chr15:48285235 [GRCh38]
Chr15:48577432 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.1493C>T (p.Ala498Val) single nucleotide variant not provided [RCV003064255] Chr15:48246949 [GRCh38]
Chr15:48539146 [GRCh37]
Chr15:15q21.1		 likely pathogenic|uncertain significance
NM_000338.3(SLC12A1):c.1560+16C>A single nucleotide variant not provided [RCV002717012] Chr15:48247032 [GRCh38]
Chr15:48539229 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.766T>C (p.Phe256Leu) single nucleotide variant Inborn genetic diseases [RCV002703022] Chr15:48229230 [GRCh38]
Chr15:48521427 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.689C>T (p.Thr230Ile) single nucleotide variant not provided [RCV002963148] Chr15:48226536 [GRCh38]
Chr15:48518733 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.1894T>C (p.Tyr632His) single nucleotide variant Inborn genetic diseases [RCV002674738] Chr15:48251722 [GRCh38]
Chr15:48543919 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.3013A>G (p.Lys1005Glu) single nucleotide variant Inborn genetic diseases [RCV002836012] Chr15:48299192 [GRCh38]
Chr15:48591389 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2143G>A (p.Glu715Lys) single nucleotide variant Inborn genetic diseases [RCV002747979] Chr15:48259300 [GRCh38]
Chr15:48551497 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2846T>C (p.Ile949Thr) single nucleotide variant Inborn genetic diseases [RCV002878694] Chr15:48288489 [GRCh38]
Chr15:48580686 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2391G>A (p.Val797=) single nucleotide variant not provided [RCV002599299] Chr15:48269753 [GRCh38]
Chr15:48561950 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.251C>G (p.Ala84Gly) single nucleotide variant Inborn genetic diseases [RCV002989502] Chr15:48207970 [GRCh38]
Chr15:48500167 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.397G>A (p.Glu133Lys) single nucleotide variant Inborn genetic diseases [RCV002747727] Chr15:48208116 [GRCh38]
Chr15:48500313 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.3002A>G (p.His1001Arg) single nucleotide variant not provided [RCV002601955] Chr15:48299181 [GRCh38]
Chr15:48591378 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.216T>C (p.Asn72=) single nucleotide variant not provided [RCV002632663] Chr15:48207935 [GRCh38]
Chr15:48500132 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1943-7T>C single nucleotide variant not provided [RCV002770619] Chr15:48255804 [GRCh38]
Chr15:48548001 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2073C>T (p.Pro691=) single nucleotide variant not provided [RCV003068166] Chr15:48259230 [GRCh38]
Chr15:48551427 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.552+10C>T single nucleotide variant not provided [RCV003050033] Chr15:48220775 [GRCh38]
Chr15:48512972 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.922A>T (p.Thr308Ser) single nucleotide variant Inborn genetic diseases [RCV002604537]|not provided [RCV002604536] Chr15:48230450 [GRCh38]
Chr15:48522647 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.418A>C (p.Lys140Gln) single nucleotide variant not provided [RCV002653801] Chr15:48208137 [GRCh38]
Chr15:48500334 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.483T>G (p.Asp161Glu) single nucleotide variant Inborn genetic diseases [RCV002723258] Chr15:48220696 [GRCh38]
Chr15:48512893 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2161C>T (p.Arg721Cys) single nucleotide variant not provided [RCV002583439] Chr15:48267567 [GRCh38]
Chr15:48559764 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.628+19C>A single nucleotide variant not provided [RCV002608274] Chr15:48221015 [GRCh38]
Chr15:48513212 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.628+10T>C single nucleotide variant not provided [RCV002608290] Chr15:48221006 [GRCh38]
Chr15:48513203 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1546C>T (p.Pro516Ser) single nucleotide variant not provided [RCV003070353] Chr15:48247002 [GRCh38]
Chr15:48539199 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2643C>A (p.Asn881Lys) single nucleotide variant Inborn genetic diseases [RCV003269464]|not provided [RCV002605853] Chr15:48288056 [GRCh38]
Chr15:48580253 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.1799C>T (p.Ala600Val) single nucleotide variant Inborn genetic diseases [RCV002679083] Chr15:48251627 [GRCh38]
Chr15:48543824 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2486-20A>T single nucleotide variant not provided [RCV002658125] Chr15:48285086 [GRCh38]
Chr15:48577283 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2732T>C (p.Ile911Thr) single nucleotide variant not provided [RCV003071161] Chr15:48288145 [GRCh38]
Chr15:48580342 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2577C>T (p.Gly859=) single nucleotide variant not provided [RCV002590309] Chr15:48285197 [GRCh38]
Chr15:48577394 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_000338.3(SLC12A1):c.3097-13A>C single nucleotide variant not provided [RCV002658066] Chr15:48301302 [GRCh38]
Chr15:48593499 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2445C>T (p.Ile815=) single nucleotide variant not provided [RCV002635448] Chr15:48274613 [GRCh38]
Chr15:48566810 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.975+1G>A single nucleotide variant Bartter disease type 1 [RCV003340526]|not provided [RCV002635503] Chr15:48230504 [GRCh38]
Chr15:48522701 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_000338.3(SLC12A1):c.14A>G (p.Asn5Ser) single nucleotide variant not provided [RCV002589667] Chr15:48207733 [GRCh38]
Chr15:48499930 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.406G>A (p.Glu136Lys) single nucleotide variant Inborn genetic diseases [RCV003250796]|not provided [RCV002606699] Chr15:48208125 [GRCh38]
Chr15:48500322 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.719G>A (p.Arg240His) single nucleotide variant not provided [RCV002587909] Chr15:48226566 [GRCh38]
Chr15:48518763 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.876G>A (p.Ser292=) single nucleotide variant SLC12A1-related condition [RCV003973696]|not provided [RCV002606864] Chr15:48230404 [GRCh38]
Chr15:48522601 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1966C>T (p.Gln656Ter) single nucleotide variant Bartter disease type 1 [RCV003225609]|not provided [RCV003561245] Chr15:48255834 [GRCh38]
Chr15:48548031 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.2428G>A (p.Val810Met) single nucleotide variant Inborn genetic diseases [RCV003192857] Chr15:48274596 [GRCh38]
Chr15:48566793 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.377T>C (p.Val126Ala) single nucleotide variant Inborn genetic diseases [RCV003220766] Chr15:48208096 [GRCh38]
Chr15:48500293 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.3003T>A (p.His1001Gln) single nucleotide variant Bartter disease type 1 [RCV003136714] Chr15:48299182 [GRCh38]
Chr15:48591379 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2408C>T (p.Ala803Val) single nucleotide variant Inborn genetic diseases [RCV003204997] Chr15:48274576 [GRCh38]
Chr15:48566773 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2513G>A (p.Arg838Lys) single nucleotide variant Inborn genetic diseases [RCV003220184] Chr15:48285133 [GRCh38]
Chr15:48577330 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2057T>C (p.Val686Ala) single nucleotide variant Inborn genetic diseases [RCV003191042] Chr15:48259214 [GRCh38]
Chr15:48551411 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2719delinsCA (p.Glu907fs) indel Bartter syndrome [RCV003226665] Chr15:48288132 [GRCh38]
Chr15:48580329 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_000338.3(SLC12A1):c.1697C>G (p.Thr566Ser) single nucleotide variant not specified [RCV003322366] Chr15:48249587 [GRCh38]
Chr15:48541784 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2669A>G (p.Glu890Gly) single nucleotide variant Bartter disease type 3 [RCV003338029] Chr15:48288082 [GRCh38]
Chr15:48580279 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.815T>C (p.Val272Ala) single nucleotide variant Inborn genetic diseases [RCV003369129] Chr15:48229279 [GRCh38]
Chr15:48521476 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2810A>G (p.Lys937Arg) single nucleotide variant Bartter disease type 1 [RCV003333283] Chr15:48288453 [GRCh38]
Chr15:48580650 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2456T>C (p.Phe819Ser) single nucleotide variant Bartter disease type 1 [RCV003485943]|Inborn genetic diseases [RCV003354568] Chr15:48274624 [GRCh38]
Chr15:48566821 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2485+8C>A single nucleotide variant not provided [RCV003569997] Chr15:48274661 [GRCh38]
Chr15:48566858 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.690T>C (p.Thr230=) single nucleotide variant not provided [RCV003570623] Chr15:48226537 [GRCh38]
Chr15:48518734 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1453-15A>G single nucleotide variant not provided [RCV003569781] Chr15:48246894 [GRCh38]
Chr15:48539091 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1925_1926del (p.Val642fs) microsatellite not provided [RCV003571576] Chr15:48251751..48251752 [GRCh38]
Chr15:48543948..48543949 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.1911C>T (p.Phe637=) single nucleotide variant not provided [RCV003874275] Chr15:48251739 [GRCh38]
Chr15:48543936 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.372C>T (p.Pro124=) single nucleotide variant not provided [RCV003875449] Chr15:48208091 [GRCh38]
Chr15:48500288 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.246A>C (p.Thr82=) single nucleotide variant not provided [RCV003570358] Chr15:48207965 [GRCh38]
Chr15:48500162 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2652G>A (p.Gln884=) single nucleotide variant not provided [RCV003712625] Chr15:48288065 [GRCh38]
Chr15:48580262 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1087+2T>C single nucleotide variant not provided [RCV003875208] Chr15:48232840 [GRCh38]
Chr15:48525037 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_000338.3(SLC12A1):c.1560+16C>T single nucleotide variant not provided [RCV003873072] Chr15:48247032 [GRCh38]
Chr15:48539229 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.528G>A (p.Lys176=) single nucleotide variant not provided [RCV003875509] Chr15:48220741 [GRCh38]
Chr15:48512938 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.810G>C (p.Val270=) single nucleotide variant not provided [RCV003569094] Chr15:48229274 [GRCh38]
Chr15:48521471 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2874-18T>A single nucleotide variant not provided [RCV003543359] Chr15:48291760 [GRCh38]
Chr15:48583957 [GRCh37]
Chr15:15q21.1		 likely benign
Single allele deletion not provided [RCV003448697] Chr15:41321409..51718601 [GRCh37]
Chr15:15q15.1-21.2		 pathogenic
NM_000338.3(SLC12A1):c.2169G>C (p.Leu723=) single nucleotide variant not provided [RCV003691585] Chr15:48267575 [GRCh38]
Chr15:48559772 [GRCh37]
Chr15:15q21.1		 likely benign
GRCh37/hg19 15q21.1(chr15:48376697-48589845)x1 copy number loss not provided [RCV003483229] Chr15:48376697..48589845 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.785T>C (p.Leu262Pro) single nucleotide variant SLC12A1-related condition [RCV003400339] Chr15:48229249 [GRCh38]
Chr15:48521446 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.800_814del (p.Ala267_Ala271del) deletion SLC12A1-related condition [RCV003400290] Chr15:48229262..48229276 [GRCh38]
Chr15:48521459..48521473 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.3130C>T (p.Gln1044Ter) single nucleotide variant SLC12A1-related condition [RCV003408738] Chr15:48301348 [GRCh38]
Chr15:48593545 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_000338.3(SLC12A1):c.1300G>A (p.Gly434Arg) single nucleotide variant SLC12A1-related condition [RCV003400437] Chr15:48241599 [GRCh38]
Chr15:48533796 [GRCh37]
Chr15:15q21.1		 likely pathogenic|uncertain significance
NM_000338.3(SLC12A1):c.590_599del (p.Phe197fs) deletion SLC12A1-related condition [RCV003393127]|not provided [RCV003708797] Chr15:48220956..48220965 [GRCh38]
Chr15:48513153..48513162 [GRCh37]
Chr15:15q21.1		 pathogenic|likely pathogenic
NM_000338.3(SLC12A1):c.3249T>C (p.Pro1083=) single nucleotide variant not provided [RCV003579373] Chr15:48302834 [GRCh38]
Chr15:48595031 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.865-6C>T single nucleotide variant not provided [RCV003714405] Chr15:48230387 [GRCh38]
Chr15:48522584 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.849A>G (p.Val283=) single nucleotide variant not provided [RCV003826593] Chr15:48229313 [GRCh38]
Chr15:48521510 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1473G>C (p.Gly491=) single nucleotide variant not provided [RCV003576795] Chr15:48246929 [GRCh38]
Chr15:48539126 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.516T>C (p.Ala172=) single nucleotide variant not provided [RCV003696080] Chr15:48220729 [GRCh38]
Chr15:48512926 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.976-9C>G single nucleotide variant not provided [RCV003831685] Chr15:48232718 [GRCh38]
Chr15:48524915 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.725-20A>G single nucleotide variant not provided [RCV003661479] Chr15:48229169 [GRCh38]
Chr15:48521366 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.629-18A>G single nucleotide variant not provided [RCV003695587] Chr15:48226458 [GRCh38]
Chr15:48518655 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2630-18A>G single nucleotide variant not provided [RCV003660098] Chr15:48288025 [GRCh38]
Chr15:48580222 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.261C>T (p.His87=) single nucleotide variant not provided [RCV003877803] Chr15:48207980 [GRCh38]
Chr15:48500177 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1215+8G>A single nucleotide variant not provided [RCV003714929] Chr15:48235012 [GRCh38]
Chr15:48527209 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2960+14A>C single nucleotide variant not provided [RCV003692322] Chr15:48291878 [GRCh38]
Chr15:48584075 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.138A>G (p.Glu46=) single nucleotide variant not provided [RCV003576271] Chr15:48207857 [GRCh38]
Chr15:48500054 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2331G>C (p.Leu777=) single nucleotide variant not provided [RCV003579314] Chr15:48269693 [GRCh38]
Chr15:48561890 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1053T>C (p.Asn351=) single nucleotide variant not provided [RCV003663192] Chr15:48232804 [GRCh38]
Chr15:48525001 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.360C>T (p.Ser120=) single nucleotide variant not provided [RCV003848927] Chr15:48208079 [GRCh38]
Chr15:48500276 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2961-12T>C single nucleotide variant not provided [RCV003693784] Chr15:48299128 [GRCh38]
Chr15:48591325 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2427C>T (p.Gly809=) single nucleotide variant not provided [RCV003878546] Chr15:48274595 [GRCh38]
Chr15:48566792 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1059A>G (p.Lys353=) single nucleotide variant not provided [RCV003693874] Chr15:48232810 [GRCh38]
Chr15:48525007 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2439C>G (p.Val813=) single nucleotide variant not provided [RCV003695145] Chr15:48274607 [GRCh38]
Chr15:48566804 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1943-15C>T single nucleotide variant not provided [RCV003849136] Chr15:48255796 [GRCh38]
Chr15:48547993 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.3165-16del deletion not provided [RCV003546965] Chr15:48302730 [GRCh38]
Chr15:48594927 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.1560+19C>T single nucleotide variant not provided [RCV003661185] Chr15:48247035 [GRCh38]
Chr15:48539232 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2124T>C (p.Ser708=) single nucleotide variant not provided [RCV003690592] Chr15:48259281 [GRCh38]
Chr15:48551478 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1942+9A>G single nucleotide variant not provided [RCV003693078] Chr15:48251779 [GRCh38]
Chr15:48543976 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.3165-14C>G single nucleotide variant not provided [RCV003695236] Chr15:48302736 [GRCh38]
Chr15:48594933 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.524_525del (p.Val175fs) microsatellite not provided [RCV003578220] Chr15:48220735..48220736 [GRCh38]
Chr15:48512932..48512933 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.552+16T>C single nucleotide variant not provided [RCV003714389] Chr15:48220781 [GRCh38]
Chr15:48512978 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1554G>A (p.Val518=) single nucleotide variant not provided [RCV003686823] Chr15:48247010 [GRCh38]
Chr15:48539207 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.3096+10del deletion not provided [RCV003686826] Chr15:48299283 [GRCh38]
Chr15:48591480 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2042+20C>T single nucleotide variant not provided [RCV003714587] Chr15:48255930 [GRCh38]
Chr15:48548127 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.426G>A (p.Val142=) single nucleotide variant not provided [RCV003691219] Chr15:48220639 [GRCh38]
Chr15:48512836 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2064A>G (p.Thr688=) single nucleotide variant not provided [RCV003715428] Chr15:48259221 [GRCh38]
Chr15:48551418 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.628+18C>A single nucleotide variant not provided [RCV003575457] Chr15:48221014 [GRCh38]
Chr15:48513211 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.864+12C>T single nucleotide variant not provided [RCV003882211] Chr15:48229340 [GRCh38]
Chr15:48521537 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.678T>C (p.Thr226=) single nucleotide variant not provided [RCV003689233] Chr15:48226525 [GRCh38]
Chr15:48518722 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1539C>T (p.Val513=) single nucleotide variant not provided [RCV003739258] Chr15:48246995 [GRCh38]
Chr15:48539192 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1210T>C (p.Leu404=) single nucleotide variant not provided [RCV003714802] Chr15:48234999 [GRCh38]
Chr15:48527196 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.3150T>G (p.Ala1050=) single nucleotide variant not provided [RCV003881593] Chr15:48301368 [GRCh38]
Chr15:48593565 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.724+18T>G single nucleotide variant not provided [RCV003578172] Chr15:48226589 [GRCh38]
Chr15:48518786 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1561-20C>T single nucleotide variant not provided [RCV003546059] Chr15:48247317 [GRCh38]
Chr15:48539514 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2619G>A (p.Thr873=) single nucleotide variant not provided [RCV003827289] Chr15:48285239 [GRCh38]
Chr15:48577436 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2296-10C>T single nucleotide variant not provided [RCV003573935] Chr15:48269648 [GRCh38]
Chr15:48561845 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.858T>C (p.Leu286=) single nucleotide variant not provided [RCV003694316] Chr15:48229322 [GRCh38]
Chr15:48521519 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2043-9del deletion not provided [RCV003714067] Chr15:48259184 [GRCh38]
Chr15:48551381 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.1563T>C (p.Ala521=) single nucleotide variant not provided [RCV003716609] Chr15:48247339 [GRCh38]
Chr15:48539536 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.3165-7T>C single nucleotide variant not provided [RCV003831169] Chr15:48302743 [GRCh38]
Chr15:48594940 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.3165-11C>T single nucleotide variant not provided [RCV003877262] Chr15:48302739 [GRCh38]
Chr15:48594936 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1088-10T>C single nucleotide variant not provided [RCV003661078] Chr15:48234867 [GRCh38]
Chr15:48527064 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2946G>A (p.Arg982=) single nucleotide variant not provided [RCV003714253] Chr15:48291850 [GRCh38]
Chr15:48584047 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.3165-15C>G single nucleotide variant not provided [RCV003691236] Chr15:48302735 [GRCh38]
Chr15:48594932 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.3240C>T (p.Asn1080=) single nucleotide variant not provided [RCV003713129] Chr15:48302825 [GRCh38]
Chr15:48595022 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1494G>T (p.Ala498=) single nucleotide variant not provided [RCV003576492] Chr15:48246950 [GRCh38]
Chr15:48539147 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.3097-11G>A single nucleotide variant not provided [RCV003714543] Chr15:48301304 [GRCh38]
Chr15:48593501 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.267T>C (p.Tyr89=) single nucleotide variant not provided [RCV003578511] Chr15:48207986 [GRCh38]
Chr15:48500183 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2873+14C>A single nucleotide variant not provided [RCV003573145] Chr15:48288530 [GRCh38]
Chr15:48580727 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.801T>G (p.Ala267=) single nucleotide variant not provided [RCV003694185] Chr15:48229265 [GRCh38]
Chr15:48521462 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.492T>G (p.Ala164=) single nucleotide variant not provided [RCV003738974] Chr15:48220705 [GRCh38]
Chr15:48512902 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2379T>C (p.Ile793=) single nucleotide variant not provided [RCV003666124] Chr15:48269741 [GRCh38]
Chr15:48561938 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1942+16_1942+19del deletion not provided [RCV003573937] Chr15:48251783..48251786 [GRCh38]
Chr15:48543980..48543983 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1561-8T>C single nucleotide variant not provided [RCV003547450] Chr15:48247329 [GRCh38]
Chr15:48539526 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.3165-14C>T single nucleotide variant not provided [RCV003693630] Chr15:48302736 [GRCh38]
Chr15:48594933 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2507del (p.Gln836fs) deletion not provided [RCV003687209] Chr15:48285127 [GRCh38]
Chr15:48577324 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.2529G>A (p.Ala843=) single nucleotide variant not provided [RCV003662799] Chr15:48285149 [GRCh38]
Chr15:48577346 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1038C>A (p.Val346=) single nucleotide variant not provided [RCV003715803] Chr15:48232789 [GRCh38]
Chr15:48524986 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.628+16C>T single nucleotide variant not provided [RCV003662814] Chr15:48221012 [GRCh38]
Chr15:48513209 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2253G>T (p.Val751=) single nucleotide variant not provided [RCV003663043] Chr15:48267659 [GRCh38]
Chr15:48559856 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2874-19T>C single nucleotide variant not provided [RCV003687340] Chr15:48291759 [GRCh38]
Chr15:48583956 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.975+11C>T single nucleotide variant not provided [RCV003660446] Chr15:48230514 [GRCh38]
Chr15:48522711 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.3097-19A>C single nucleotide variant not provided [RCV003693123] Chr15:48301296 [GRCh38]
Chr15:48593493 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.483T>C (p.Asp161=) single nucleotide variant not provided [RCV003544741] Chr15:48220696 [GRCh38]
Chr15:48512893 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1685-19A>C single nucleotide variant not provided [RCV003660518] Chr15:48249556 [GRCh38]
Chr15:48541753 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.3063T>C (p.Ile1021=) single nucleotide variant not provided [RCV003663361] Chr15:48299242 [GRCh38]
Chr15:48591439 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.3097-20A>T single nucleotide variant not provided [RCV003574559] Chr15:48301295 [GRCh38]
Chr15:48593492 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2960+18A>G single nucleotide variant not provided [RCV003691232] Chr15:48291882 [GRCh38]
Chr15:48584079 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1733C>G (p.Ser578Ter) single nucleotide variant not provided [RCV003687531] Chr15:48249623 [GRCh38]
Chr15:48541820 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.918C>T (p.Ser306=) single nucleotide variant not provided [RCV003688551] Chr15:48230446 [GRCh38]
Chr15:48522643 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.3104_3105delinsAA (p.Arg1035Gln) indel not provided [RCV003663502] Chr15:48301322..48301323 [GRCh38]
Chr15:48593519..48593520 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.3168C>T (p.Ser1056=) single nucleotide variant not provided [RCV003712903] Chr15:48302753 [GRCh38]
Chr15:48594950 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.3156C>T (p.Leu1052=) single nucleotide variant not provided [RCV003659724] Chr15:48301374 [GRCh38]
Chr15:48593571 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2654C>A (p.Ser885Ter) single nucleotide variant not provided [RCV003545388] Chr15:48288067 [GRCh38]
Chr15:48580264 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.2155-5C>A single nucleotide variant not provided [RCV003714231] Chr15:48267556 [GRCh38]
Chr15:48559753 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.864+24del deletion not provided [RCV003690502] Chr15:48229346 [GRCh38]
Chr15:48521543 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.2296-2A>C single nucleotide variant not provided [RCV003545441] Chr15:48269656 [GRCh38]
Chr15:48561853 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_000338.3(SLC12A1):c.2960+16C>T single nucleotide variant not provided [RCV003661892] Chr15:48291880 [GRCh38]
Chr15:48584077 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2762-18A>T single nucleotide variant not provided [RCV003572394] Chr15:48288387 [GRCh38]
Chr15:48580584 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2630-19A>G single nucleotide variant not provided [RCV003548819] Chr15:48288024 [GRCh38]
Chr15:48580221 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.421-14T>C single nucleotide variant not provided [RCV003836043] Chr15:48220620 [GRCh38]
Chr15:48512817 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.3228C>T (p.Ile1076=) single nucleotide variant not provided [RCV003812097] Chr15:48302813 [GRCh38]
Chr15:48595010 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.553-15C>T single nucleotide variant not provided [RCV003835431] Chr15:48220906 [GRCh38]
Chr15:48513103 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2629+18T>C single nucleotide variant not provided [RCV003697789] Chr15:48285267 [GRCh38]
Chr15:48577464 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1874G>A (p.Trp625Ter) single nucleotide variant not provided [RCV003664486] Chr15:48251702 [GRCh38]
Chr15:48543899 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.3096+10T>C single nucleotide variant not provided [RCV003852563] Chr15:48299285 [GRCh38]
Chr15:48591482 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1453-8T>C single nucleotide variant not provided [RCV003550163] Chr15:48246901 [GRCh38]
Chr15:48539098 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.795T>A (p.Ala265=) single nucleotide variant not provided [RCV003550172] Chr15:48229259 [GRCh38]
Chr15:48521456 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1980C>T (p.Tyr660=) single nucleotide variant not provided [RCV003579832] Chr15:48255848 [GRCh38]
Chr15:48548045 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2775T>C (p.Leu925=) single nucleotide variant not provided [RCV003550158] Chr15:48288418 [GRCh38]
Chr15:48580615 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2925C>T (p.Ile975=) single nucleotide variant not provided [RCV003664729] Chr15:48291829 [GRCh38]
Chr15:48584026 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.774G>A (p.Gly258=) single nucleotide variant not provided [RCV003851659] Chr15:48229238 [GRCh38]
Chr15:48521435 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.628+17T>G single nucleotide variant not provided [RCV003557757] Chr15:48221013 [GRCh38]
Chr15:48513210 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2874-17T>C single nucleotide variant not provided [RCV003581000] Chr15:48291761 [GRCh38]
Chr15:48583958 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2403-14G>T single nucleotide variant not provided [RCV003833377] Chr15:48274557 [GRCh38]
Chr15:48566754 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1110T>C (p.Phe370=) single nucleotide variant not provided [RCV003579960] Chr15:48234899 [GRCh38]
Chr15:48527096 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1902T>C (p.Ile634=) single nucleotide variant not provided [RCV003850887] Chr15:48251730 [GRCh38]
Chr15:48543927 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.553-14G>T single nucleotide variant not provided [RCV003834423] Chr15:48220907 [GRCh38]
Chr15:48513104 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2047C>T (p.Gln683Ter) single nucleotide variant not provided [RCV003717487] Chr15:48259204 [GRCh38]
Chr15:48551401 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.450_451del (p.Asp150fs) deletion not provided [RCV003580071] Chr15:48220662..48220663 [GRCh38]
Chr15:48512859..48512860 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.3208T>G (p.Tyr1070Asp) single nucleotide variant not provided [RCV003849959] Chr15:48302793 [GRCh38]
Chr15:48594990 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.1917C>T (p.Tyr639=) single nucleotide variant not provided [RCV003717418] Chr15:48251745 [GRCh38]
Chr15:48543942 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.628+18C>T single nucleotide variant not provided [RCV003813757] Chr15:48221014 [GRCh38]
Chr15:48513211 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.468T>C (p.Asp156=) single nucleotide variant not provided [RCV003580260] Chr15:48220681 [GRCh38]
Chr15:48512878 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2154+19C>A single nucleotide variant not provided [RCV003836543] Chr15:48259330 [GRCh38]
Chr15:48551527 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2961-15T>C single nucleotide variant not provided [RCV003716880] Chr15:48299125 [GRCh38]
Chr15:48591322 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.3165-19T>C single nucleotide variant not provided [RCV003702640] Chr15:48302731 [GRCh38]
Chr15:48594928 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1497A>G (p.Gly499=) single nucleotide variant not provided [RCV003671854] Chr15:48246953 [GRCh38]
Chr15:48539150 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1266C>T (p.Thr422=) single nucleotide variant not provided [RCV003832460] Chr15:48241565 [GRCh38]
Chr15:48533762 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2485+15del deletion not provided [RCV003700123] Chr15:48274666 [GRCh38]
Chr15:48566863 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2238T>G (p.Ala746=) single nucleotide variant not provided [RCV003850469] Chr15:48267644 [GRCh38]
Chr15:48559841 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1614T>A (p.Tyr538Ter) single nucleotide variant not provided [RCV003559860] Chr15:48247390 [GRCh38]
Chr15:48539587 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.2761+14G>A single nucleotide variant not provided [RCV003672257] Chr15:48288188 [GRCh38]
Chr15:48580385 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.3159T>G (p.Ile1053Met) single nucleotide variant not provided [RCV003701578] Chr15:48301377 [GRCh38]
Chr15:48593574 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2397C>T (p.Ile799=) single nucleotide variant not provided [RCV003580218] Chr15:48269759 [GRCh38]
Chr15:48561956 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2960+11T>C single nucleotide variant not provided [RCV003834008] Chr15:48291875 [GRCh38]
Chr15:48584072 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.725-15dup duplication not provided [RCV003839938] Chr15:48229173..48229174 [GRCh38]
Chr15:48521370..48521371 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.90T>C (p.His30=) single nucleotide variant not provided [RCV003726407] Chr15:48207809 [GRCh38]
Chr15:48500006 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.210T>C (p.Tyr70=) single nucleotide variant not provided [RCV003670395] Chr15:48207929 [GRCh38]
Chr15:48500126 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.768C>T (p.Phe256=) single nucleotide variant SLC12A1-related condition [RCV003909184]|not provided [RCV003840486] Chr15:48229232 [GRCh38]
Chr15:48521429 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1453-14C>A single nucleotide variant not provided [RCV003674421] Chr15:48246895 [GRCh38]
Chr15:48539092 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2756A>G (p.Asp919Gly) single nucleotide variant not provided [RCV003811512] Chr15:48288169 [GRCh38]
Chr15:48580366 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2296-15A>C single nucleotide variant not provided [RCV003698423] Chr15:48269643 [GRCh38]
Chr15:48561840 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2589del (p.Ala864fs) deletion not provided [RCV003723923] Chr15:48285204 [GRCh38]
Chr15:48577401 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.2486-15G>A single nucleotide variant not provided [RCV003703354] Chr15:48285091 [GRCh38]
Chr15:48577288 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1787-13A>G single nucleotide variant not provided [RCV003835665] Chr15:48251602 [GRCh38]
Chr15:48543799 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2466T>C (p.Ser822=) single nucleotide variant not provided [RCV003833263] Chr15:48274634 [GRCh38]
Chr15:48566831 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.3198G>A (p.Ser1066=) single nucleotide variant not provided [RCV003659635] Chr15:48302783 [GRCh38]
Chr15:48594980 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1716C>T (p.Ser572=) single nucleotide variant not provided [RCV003835911] Chr15:48249606 [GRCh38]
Chr15:48541803 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.687A>G (p.Ser229=) single nucleotide variant not provided [RCV003674052] Chr15:48226534 [GRCh38]
Chr15:48518731 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2485+17T>G single nucleotide variant not provided [RCV003850180] Chr15:48274670 [GRCh38]
Chr15:48566867 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1233C>A (p.Ile411=) single nucleotide variant not provided [RCV003850202] Chr15:48241532 [GRCh38]
Chr15:48533729 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2762-15T>C single nucleotide variant not provided [RCV003817067] Chr15:48288390 [GRCh38]
Chr15:48580587 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.450C>T (p.Asp150=) single nucleotide variant not provided [RCV003856699] Chr15:48220663 [GRCh38]
Chr15:48512860 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1087+8G>A single nucleotide variant not provided [RCV003580906] Chr15:48232846 [GRCh38]
Chr15:48525043 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2703A>G (p.Gln901=) single nucleotide variant not provided [RCV003669613] Chr15:48288116 [GRCh38]
Chr15:48580313 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2874-9T>C single nucleotide variant not provided [RCV003833012] Chr15:48291769 [GRCh38]
Chr15:48583966 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1452+10A>T single nucleotide variant not provided [RCV003668390] Chr15:48244914 [GRCh38]
Chr15:48537111 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1245C>T (p.Thr415=) single nucleotide variant not provided [RCV003667388] Chr15:48241544 [GRCh38]
Chr15:48533741 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2296-15A>G single nucleotide variant not provided [RCV003814837] Chr15:48269643 [GRCh38]
Chr15:48561840 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1521C>T (p.Ser507=) single nucleotide variant not provided [RCV003851579] Chr15:48246977 [GRCh38]
Chr15:48539174 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.924A>G (p.Thr308=) single nucleotide variant not provided [RCV003726467] Chr15:48230452 [GRCh38]
Chr15:48522649 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1453-17G>A single nucleotide variant not provided [RCV003549208] Chr15:48246892 [GRCh38]
Chr15:48539089 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.330C>T (p.Pro110=) single nucleotide variant not provided [RCV003838911] Chr15:48208049 [GRCh38]
Chr15:48500246 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.3018T>C (p.Asp1006=) single nucleotide variant not provided [RCV003856201] Chr15:48299197 [GRCh38]
Chr15:48591394 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1685-5T>C single nucleotide variant not provided [RCV003836408] Chr15:48249570 [GRCh38]
Chr15:48541767 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.552+1G>A single nucleotide variant not provided [RCV003671474] Chr15:48220766 [GRCh38]
Chr15:48512963 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_000338.3(SLC12A1):c.2762-1G>T single nucleotide variant not provided [RCV003702553] Chr15:48288404 [GRCh38]
Chr15:48580601 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_000338.3(SLC12A1):c.3165-5dup duplication not provided [RCV003812057] Chr15:48302744..48302745 [GRCh38]
Chr15:48594941..48594942 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2154+7_2154+11del deletion not provided [RCV003701794] Chr15:48259318..48259322 [GRCh38]
Chr15:48551515..48551519 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.467A>G (p.Asp156Gly) single nucleotide variant not provided [RCV003836480] Chr15:48220680 [GRCh38]
Chr15:48512877 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.975+19A>G single nucleotide variant not provided [RCV003836515] Chr15:48230522 [GRCh38]
Chr15:48522719 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.864+15T>G single nucleotide variant not provided [RCV003559543] Chr15:48229343 [GRCh38]
Chr15:48521540 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1215+20T>G single nucleotide variant not provided [RCV003724010] Chr15:48235024 [GRCh38]
Chr15:48527221 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1561-20C>A single nucleotide variant not provided [RCV003856257] Chr15:48247317 [GRCh38]
Chr15:48539514 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1326C>T (p.Thr442=) single nucleotide variant not provided [RCV003702796] Chr15:48244778 [GRCh38]
Chr15:48536975 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1125A>T (p.Thr375=) single nucleotide variant not provided [RCV003667715] Chr15:48234914 [GRCh38]
Chr15:48527111 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2763G>T (p.Gly921=) single nucleotide variant not provided [RCV003702325] Chr15:48288406 [GRCh38]
Chr15:48580603 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.975+12A>G single nucleotide variant not provided [RCV003667035] Chr15:48230515 [GRCh38]
Chr15:48522712 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2616A>G (p.Thr872=) single nucleotide variant not provided [RCV003669616] Chr15:48285236 [GRCh38]
Chr15:48577433 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2485+5_2485+10del deletion not provided [RCV003723585] Chr15:48274657..48274662 [GRCh38]
Chr15:48566854..48566859 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2952_2955del (p.Asn984fs) microsatellite not provided [RCV003559861] Chr15:48291852..48291855 [GRCh38]
Chr15:48584049..48584052 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.2295+12T>C single nucleotide variant not provided [RCV003548859] Chr15:48267713 [GRCh38]
Chr15:48559910 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1482C>T (p.Pro494=) single nucleotide variant not provided [RCV003839778] Chr15:48246938 [GRCh38]
Chr15:48539135 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.906G>C (p.Arg302=) single nucleotide variant not provided [RCV003560339] Chr15:48230434 [GRCh38]
Chr15:48522631 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1627G>T (p.Glu543Ter) single nucleotide variant not provided [RCV003716848] Chr15:48247403 [GRCh38]
Chr15:48539600 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.7C>T (p.Leu3=) single nucleotide variant not provided [RCV003856470] Chr15:48207726 [GRCh38]
Chr15:48499923 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2762-19A>T single nucleotide variant not provided [RCV003836741] Chr15:48288386 [GRCh38]
Chr15:48580583 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1301-13G>T single nucleotide variant not provided [RCV003668749] Chr15:48244740 [GRCh38]
Chr15:48536937 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1087+18G>A single nucleotide variant not provided [RCV003702063] Chr15:48232856 [GRCh38]
Chr15:48525053 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2832T>C (p.Tyr944=) single nucleotide variant not provided [RCV003668934] Chr15:48288475 [GRCh38]
Chr15:48580672 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2762-8T>C single nucleotide variant not provided [RCV003717351] Chr15:48288397 [GRCh38]
Chr15:48580594 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2629+17A>T single nucleotide variant not provided [RCV003672128] Chr15:48285266 [GRCh38]
Chr15:48577463 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1216-14T>C single nucleotide variant not provided [RCV003854829] Chr15:48241501 [GRCh38]
Chr15:48533698 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.3164+7A>T single nucleotide variant not provided [RCV003849878] Chr15:48301389 [GRCh38]
Chr15:48593586 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1561-15C>T single nucleotide variant not provided [RCV003663951] Chr15:48247322 [GRCh38]
Chr15:48539519 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.553-14G>A single nucleotide variant not provided [RCV003814191] Chr15:48220907 [GRCh38]
Chr15:48513104 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1347C>T (p.Ile449=) single nucleotide variant not provided [RCV003666756] Chr15:48244799 [GRCh38]
Chr15:48536996 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1687G>T (p.Glu563Ter) single nucleotide variant not provided [RCV003700190] Chr15:48249577 [GRCh38]
Chr15:48541774 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.2762-16T>G single nucleotide variant not provided [RCV003670914] Chr15:48288389 [GRCh38]
Chr15:48580586 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.3057G>A (p.Trp1019Ter) single nucleotide variant not provided [RCV003701857] Chr15:48299236 [GRCh38]
Chr15:48591433 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.3102C>T (p.Tyr1034=) single nucleotide variant not provided [RCV003837660] Chr15:48301320 [GRCh38]
Chr15:48593517 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2154+10A>G single nucleotide variant not provided [RCV003668796] Chr15:48259321 [GRCh38]
Chr15:48551518 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1301-10G>A single nucleotide variant not provided [RCV003811611] Chr15:48244743 [GRCh38]
Chr15:48536940 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.300T>A (p.Thr100=) single nucleotide variant not provided [RCV003671115] Chr15:48208019 [GRCh38]
Chr15:48500216 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.421-19T>C single nucleotide variant not provided [RCV003671859] Chr15:48220615 [GRCh38]
Chr15:48512812 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1551A>C (p.Lys517Asn) single nucleotide variant not provided [RCV003723584] Chr15:48247007 [GRCh38]
Chr15:48539204 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2157A>G (p.Gly719=) single nucleotide variant not provided [RCV003700547] Chr15:48267563 [GRCh38]
Chr15:48559760 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1411C>T (p.Arg471Ter) single nucleotide variant not provided [RCV003559859] Chr15:48244863 [GRCh38]
Chr15:48537060 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.1088-16A>T single nucleotide variant not provided [RCV003701160] Chr15:48234861 [GRCh38]
Chr15:48527058 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1684+23del deletion not provided [RCV003700496] Chr15:48247479 [GRCh38]
Chr15:48539676 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.724+1G>A single nucleotide variant not provided [RCV003559857] Chr15:48226572 [GRCh38]
Chr15:48518769 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_000338.3(SLC12A1):c.904del (p.Arg302fs) deletion not provided [RCV003559858] Chr15:48230431 [GRCh38]
Chr15:48522628 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.2961-19T>C single nucleotide variant not provided [RCV003659598] Chr15:48299121 [GRCh38]
Chr15:48591318 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1453-13C>T single nucleotide variant not provided [RCV003671256] Chr15:48246896 [GRCh38]
Chr15:48539093 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.3220T>C (p.Leu1074=) single nucleotide variant not provided [RCV003663766] Chr15:48302805 [GRCh38]
Chr15:48595002 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.725-7G>A single nucleotide variant not provided [RCV003700891] Chr15:48229182 [GRCh38]
Chr15:48521379 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.553-19A>C single nucleotide variant not provided [RCV003580973] Chr15:48220902 [GRCh38]
Chr15:48513099 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2202A>G (p.Lys734=) single nucleotide variant not provided [RCV003699214] Chr15:48267608 [GRCh38]
Chr15:48559805 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2121C>T (p.Asn707=) single nucleotide variant not provided [RCV003701611] Chr15:48259278 [GRCh38]
Chr15:48551475 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2221A>T (p.Lys741Ter) single nucleotide variant not provided [RCV003724231] Chr15:48267627 [GRCh38]
Chr15:48559824 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.865-8T>C single nucleotide variant not provided [RCV003701664] Chr15:48230385 [GRCh38]
Chr15:48522582 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2388C>T (p.Tyr796=) single nucleotide variant not provided [RCV003724798] Chr15:48269750 [GRCh38]
Chr15:48561947 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2655G>A (p.Ser885=) single nucleotide variant not provided [RCV003810757] Chr15:48288068 [GRCh38]
Chr15:48580265 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2630-8C>T single nucleotide variant SLC12A1-related condition [RCV003966613]|not provided [RCV003725098] Chr15:48288035 [GRCh38]
Chr15:48580232 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1923T>C (p.Tyr641=) single nucleotide variant not provided [RCV003698377] Chr15:48251751 [GRCh38]
Chr15:48543948 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1088-4G>T single nucleotide variant not provided [RCV003549165] Chr15:48234873 [GRCh38]
Chr15:48527070 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.3165-6C>A single nucleotide variant not provided [RCV003667858] Chr15:48302744 [GRCh38]
Chr15:48594941 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2403-15T>G single nucleotide variant not provided [RCV003837484] Chr15:48274556 [GRCh38]
Chr15:48566753 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.186dup (p.Arg63Ter) duplication not provided [RCV003671467] Chr15:48207902..48207903 [GRCh38]
Chr15:48500099..48500100 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.420+13G>A single nucleotide variant not provided [RCV003723982] Chr15:48208152 [GRCh38]
Chr15:48500349 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2772T>C (p.Leu924=) single nucleotide variant not provided [RCV003819391] Chr15:48288415 [GRCh38]
Chr15:48580612 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2343T>C (p.Tyr781=) single nucleotide variant not provided [RCV003677274] Chr15:48269705 [GRCh38]
Chr15:48561902 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1179G>T (p.Gly393=) single nucleotide variant not provided [RCV003731678] Chr15:48234968 [GRCh38]
Chr15:48527165 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1879del (p.Ala627fs) deletion not provided [RCV003564801] Chr15:48251705 [GRCh38]
Chr15:48543902 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.2568C>T (p.Gly856=) single nucleotide variant not provided [RCV003843302] Chr15:48285188 [GRCh38]
Chr15:48577385 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2572C>T (p.Arg858Ter) single nucleotide variant not provided [RCV003866276] Chr15:48285192 [GRCh38]
Chr15:48577389 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.840T>C (p.Ala280=) single nucleotide variant not provided [RCV003705371] Chr15:48229304 [GRCh38]
Chr15:48521501 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2042+15T>C single nucleotide variant not provided [RCV003679972] Chr15:48255925 [GRCh38]
Chr15:48548122 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.724+18T>C single nucleotide variant not provided [RCV003848427] Chr15:48226589 [GRCh38]
Chr15:48518786 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2154+17C>T single nucleotide variant not provided [RCV003845322] Chr15:48259328 [GRCh38]
Chr15:48551525 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.628+2T>C single nucleotide variant not provided [RCV003565939] Chr15:48220998 [GRCh38]
Chr15:48513195 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_000338.3(SLC12A1):c.1478del (p.Gly493fs) deletion not provided [RCV003734655] Chr15:48246933 [GRCh38]
Chr15:48539130 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.975+2T>C single nucleotide variant not provided [RCV003674906] Chr15:48230505 [GRCh38]
Chr15:48522702 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_000338.3(SLC12A1):c.1787-20T>C single nucleotide variant not provided [RCV003705053] Chr15:48251595 [GRCh38]
Chr15:48543792 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2080A>C (p.Arg694=) single nucleotide variant not provided [RCV003564806] Chr15:48259237 [GRCh38]
Chr15:48551434 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1453-13C>G single nucleotide variant not provided [RCV003846881] Chr15:48246896 [GRCh38]
Chr15:48539093 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1845G>A (p.Leu615=) single nucleotide variant not provided [RCV003554537] Chr15:48251673 [GRCh38]
Chr15:48543870 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2169G>A (p.Leu723=) single nucleotide variant not provided [RCV003727444] Chr15:48267575 [GRCh38]
Chr15:48559772 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1626T>C (p.Asn542=) single nucleotide variant not provided [RCV003821459] Chr15:48247402 [GRCh38]
Chr15:48539599 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.724+16T>C single nucleotide variant not provided [RCV003706459] Chr15:48226587 [GRCh38]
Chr15:48518784 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1087+17G>A single nucleotide variant not provided [RCV003566538] Chr15:48232855 [GRCh38]
Chr15:48525052 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.976-18T>C single nucleotide variant not provided [RCV003677706] Chr15:48232709 [GRCh38]
Chr15:48524906 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.224A>G (p.Gln75Arg) single nucleotide variant not provided [RCV003705972] Chr15:48207943 [GRCh38]
Chr15:48500140 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2994T>C (p.Tyr998=) single nucleotide variant not provided [RCV003677996] Chr15:48299173 [GRCh38]
Chr15:48591370 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.738T>C (p.Tyr246=) single nucleotide variant not provided [RCV003862406] Chr15:48229202 [GRCh38]
Chr15:48521399 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1719C>T (p.Asn573=) single nucleotide variant not provided [RCV003822894] Chr15:48249609 [GRCh38]
Chr15:48541806 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.865-16T>C single nucleotide variant not provided [RCV003705861] Chr15:48230377 [GRCh38]
Chr15:48522574 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2963G>A (p.Trp988Ter) single nucleotide variant not provided [RCV003678237] Chr15:48299142 [GRCh38]
Chr15:48591339 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.2630-10T>G single nucleotide variant not provided [RCV003676955] Chr15:48288033 [GRCh38]
Chr15:48580230 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.629-7C>T single nucleotide variant not provided [RCV003566128] Chr15:48226469 [GRCh38]
Chr15:48518666 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.864+17C>G single nucleotide variant not provided [RCV003845710] Chr15:48229345 [GRCh38]
Chr15:48521542 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.629-6T>A single nucleotide variant not provided [RCV003847221] Chr15:48226470 [GRCh38]
Chr15:48518667 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.628+1G>A single nucleotide variant not provided [RCV003683233] Chr15:48220997 [GRCh38]
Chr15:48513194 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_000338.3(SLC12A1):c.2844G>A (p.Lys948=) single nucleotide variant not provided [RCV003683242] Chr15:48288487 [GRCh38]
Chr15:48580684 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.732C>T (p.Ala244=) single nucleotide variant not provided [RCV003551586] Chr15:48229196 [GRCh38]
Chr15:48521393 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.725-15C>T single nucleotide variant not provided [RCV003857508] Chr15:48229174 [GRCh38]
Chr15:48521371 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.3144A>G (p.Arg1048=) single nucleotide variant not provided [RCV003705462] Chr15:48301362 [GRCh38]
Chr15:48593559 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.865-10G>T single nucleotide variant not provided [RCV003843794] Chr15:48230383 [GRCh38]
Chr15:48522580 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2688G>A (p.Val896=) single nucleotide variant not provided [RCV003732001] Chr15:48288101 [GRCh38]
Chr15:48580298 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.831G>A (p.Val277=) single nucleotide variant not provided [RCV003734227] Chr15:48229295 [GRCh38]
Chr15:48521492 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2155-1G>C single nucleotide variant not provided [RCV003711781] Chr15:48267560 [GRCh38]
Chr15:48559757 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_000338.3(SLC12A1):c.1776C>T (p.Ala592=) single nucleotide variant not provided [RCV003853559] Chr15:48249666 [GRCh38]
Chr15:48541863 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.3231C>G (p.Leu1077=) single nucleotide variant not provided [RCV003865981] Chr15:48302816 [GRCh38]
Chr15:48595013 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2964G>A (p.Trp988Ter) single nucleotide variant not provided [RCV003681682] Chr15:48299143 [GRCh38]
Chr15:48591340 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.354C>G (p.Thr118=) single nucleotide variant not provided [RCV003820984] Chr15:48208073 [GRCh38]
Chr15:48500270 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1137C>T (p.Gly379=) single nucleotide variant not provided [RCV003551836] Chr15:48234926 [GRCh38]
Chr15:48527123 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2761+16A>T single nucleotide variant not provided [RCV003680169] Chr15:48288190 [GRCh38]
Chr15:48580387 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2778C>T (p.Ile926=) single nucleotide variant not provided [RCV003719053] Chr15:48288421 [GRCh38]
Chr15:48580618 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1088-1G>C single nucleotide variant not provided [RCV003675537] Chr15:48234876 [GRCh38]
Chr15:48527073 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_000338.3(SLC12A1):c.2486-18T>G single nucleotide variant not provided [RCV003867397] Chr15:48285088 [GRCh38]
Chr15:48577285 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.699del (p.Ile233fs) deletion not provided [RCV003557565] Chr15:48226546 [GRCh38]
Chr15:48518743 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.1591C>T (p.Leu531=) single nucleotide variant not provided [RCV003719322] Chr15:48247367 [GRCh38]
Chr15:48539564 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.324C>T (p.Ala108=) single nucleotide variant not provided [RCV003722203] Chr15:48208043 [GRCh38]
Chr15:48500240 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2373A>C (p.Thr791=) single nucleotide variant not provided [RCV003722287] Chr15:48269735 [GRCh38]
Chr15:48561932 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1684+1G>A single nucleotide variant Bartter disease type 1 [RCV003986049] Chr15:48247461 [GRCh38]
Chr15:48539658 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_000338.3(SLC12A1):c.1710C>T (p.Ile570=) single nucleotide variant not provided [RCV003705019] Chr15:48249600 [GRCh38]
Chr15:48541797 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.771T>C (p.Gly257=) single nucleotide variant not provided [RCV003686034] Chr15:48229235 [GRCh38]
Chr15:48521432 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2150_2151del (p.Phe717fs) deletion not provided [RCV003556964] Chr15:48259306..48259307 [GRCh38]
Chr15:48551503..48551504 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.2744G>A (p.Trp915Ter) single nucleotide variant not provided [RCV003683875] Chr15:48288157 [GRCh38]
Chr15:48580354 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.2402+1G>A single nucleotide variant not provided [RCV003557325] Chr15:48269765 [GRCh38]
Chr15:48561962 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_000338.3(SLC12A1):c.984C>A (p.Val328=) single nucleotide variant not provided [RCV003729968] Chr15:48232735 [GRCh38]
Chr15:48524932 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.530_531dup (p.Gly178fs) duplication not provided [RCV003867925] Chr15:48220741..48220742 [GRCh38]
Chr15:48512938..48512939 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.3164+20T>C single nucleotide variant not provided [RCV003705437] Chr15:48301402 [GRCh38]
Chr15:48593599 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2155-7C>T single nucleotide variant not provided [RCV003823103] Chr15:48267554 [GRCh38]
Chr15:48559751 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1560+7C>A single nucleotide variant not provided [RCV003686050] Chr15:48247023 [GRCh38]
Chr15:48539220 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1684+5G>A single nucleotide variant not provided [RCV003869782] Chr15:48247465 [GRCh38]
Chr15:48539662 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.1701T>C (p.Ile567=) single nucleotide variant not provided [RCV003684334] Chr15:48249591 [GRCh38]
Chr15:48541788 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1561-7C>G single nucleotide variant not provided [RCV003727521] Chr15:48247330 [GRCh38]
Chr15:48539527 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.629-12C>A single nucleotide variant not provided [RCV003845906] Chr15:48226464 [GRCh38]
Chr15:48518661 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1896T>C (p.Tyr632=) single nucleotide variant not provided [RCV003720264] Chr15:48251724 [GRCh38]
Chr15:48543921 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1644T>A (p.Tyr548Ter) single nucleotide variant not provided [RCV003734381] Chr15:48247420 [GRCh38]
Chr15:48539617 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.2628del (p.Asp877fs) deletion not provided [RCV003684634] Chr15:48285243 [GRCh38]
Chr15:48577440 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.1551A>G (p.Lys517=) single nucleotide variant not provided [RCV003864734] Chr15:48247007 [GRCh38]
Chr15:48539204 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1942+18T>G single nucleotide variant not provided [RCV003864891] Chr15:48251788 [GRCh38]
Chr15:48543985 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.3267A>G (p.Gly1089=) single nucleotide variant not provided [RCV003867052] Chr15:48302852 [GRCh38]
Chr15:48595049 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2155G>T (p.Gly719Ter) single nucleotide variant not provided [RCV003867065] Chr15:48267561 [GRCh38]
Chr15:48559758 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.629-10T>C single nucleotide variant not provided [RCV003685494] Chr15:48226466 [GRCh38]
Chr15:48518663 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.864+16T>A single nucleotide variant not provided [RCV003553288] Chr15:48229344 [GRCh38]
Chr15:48521541 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2486-10C>A single nucleotide variant not provided [RCV003683690] Chr15:48285096 [GRCh38]
Chr15:48577293 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.621T>C (p.Ala207=) single nucleotide variant not provided [RCV003676716] Chr15:48220989 [GRCh38]
Chr15:48513186 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2629+9T>G single nucleotide variant not provided [RCV003864982] Chr15:48285258 [GRCh38]
Chr15:48577455 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.628+1G>C single nucleotide variant not provided [RCV003719007] Chr15:48220997 [GRCh38]
Chr15:48513194 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_000338.3(SLC12A1):c.861T>A (p.Leu287=) single nucleotide variant not provided [RCV003869474] Chr15:48229325 [GRCh38]
Chr15:48521522 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1880_1890del (p.Ala627fs) deletion not provided [RCV003564602] Chr15:48251708..48251718 [GRCh38]
Chr15:48543905..48543915 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.292C>T (p.Leu98=) single nucleotide variant not provided [RCV003685764] Chr15:48208011 [GRCh38]
Chr15:48500208 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.297A>G (p.Gln99=) single nucleotide variant not provided [RCV003865468] Chr15:48208016 [GRCh38]
Chr15:48500213 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.682T>C (p.Leu228=) single nucleotide variant not provided [RCV003719966] Chr15:48226529 [GRCh38]
Chr15:48518726 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2169G>T (p.Leu723=) single nucleotide variant not provided [RCV003720342] Chr15:48267575 [GRCh38]
Chr15:48559772 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1560+12A>T single nucleotide variant not provided [RCV003678758] Chr15:48247028 [GRCh38]
Chr15:48539225 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.3075del (p.Glu1025fs) deletion not provided [RCV003684186] Chr15:48299253 [GRCh38]
Chr15:48591450 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.1737T>C (p.Tyr579=) single nucleotide variant not provided [RCV003858394] Chr15:48249627 [GRCh38]
Chr15:48541824 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.865-13T>G single nucleotide variant not provided [RCV003705279] Chr15:48230380 [GRCh38]
Chr15:48522577 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2485+14T>G single nucleotide variant not provided [RCV003853752] Chr15:48274667 [GRCh38]
Chr15:48566864 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2256G>A (p.Ala752=) single nucleotide variant not provided [RCV003721979] Chr15:48267662 [GRCh38]
Chr15:48559859 [GRCh37]
Chr15:15q21.1		 likely benign
GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3 copy number gain not specified [RCV003987108] Chr15:22770421..50347130 [GRCh37]
Chr15:15q11.2-21.2		 pathogenic
NM_000338.3(SLC12A1):c.1542C>T (p.Ser514=) single nucleotide variant not provided [RCV003727407] Chr15:48246998 [GRCh38]
Chr15:48539195 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1467A>G (p.Val489=) single nucleotide variant not provided [RCV003708500] Chr15:48246923 [GRCh38]
Chr15:48539120 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.975+19A>C single nucleotide variant not provided [RCV003870091] Chr15:48230522 [GRCh38]
Chr15:48522719 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1245C>G (p.Thr415=) single nucleotide variant not provided [RCV003853935] Chr15:48241544 [GRCh38]
Chr15:48533741 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2958G>A (p.Glu986=) single nucleotide variant not provided [RCV003685412] Chr15:48291862 [GRCh38]
Chr15:48584059 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2592T>C (p.Ala864=) single nucleotide variant not provided [RCV003562876] Chr15:48285212 [GRCh38]
Chr15:48577409 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2629+7del deletion not provided [RCV003710911] Chr15:48285255 [GRCh38]
Chr15:48577452 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.3030T>G (p.Ala1010=) single nucleotide variant not provided [RCV003677870] Chr15:48299209 [GRCh38]
Chr15:48591406 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1734A>T (p.Ser578=) single nucleotide variant not provided [RCV003679726] Chr15:48249624 [GRCh38]
Chr15:48541821 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1943-13C>T single nucleotide variant not provided [RCV003676407] Chr15:48255798 [GRCh38]
Chr15:48547995 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.3000C>T (p.Leu1000=) single nucleotide variant not provided [RCV003820267] Chr15:48299179 [GRCh38]
Chr15:48591376 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.72T>C (p.Ser24=) single nucleotide variant not provided [RCV003732320] Chr15:48207791 [GRCh38]
Chr15:48499988 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2385C>T (p.Asn795=) single nucleotide variant not provided [RCV003863457] Chr15:48269747 [GRCh38]
Chr15:48561944 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2042+18G>A single nucleotide variant not provided [RCV003564389] Chr15:48255928 [GRCh38]
Chr15:48548125 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.3165-13T>C single nucleotide variant not provided [RCV003865652] Chr15:48302737 [GRCh38]
Chr15:48594934 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.135T>C (p.Tyr45=) single nucleotide variant not provided [RCV003680739] Chr15:48207854 [GRCh38]
Chr15:48500051 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.3259G>T (p.Val1087Phe) single nucleotide variant not provided [RCV003710057] Chr15:48302844 [GRCh38]
Chr15:48595041 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.1614T>G (p.Tyr538Ter) single nucleotide variant not provided [RCV003542630] Chr15:48247390 [GRCh38]
Chr15:48539587 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.2295+18G>C single nucleotide variant not provided [RCV003847390] Chr15:48267719 [GRCh38]
Chr15:48559916 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1943-20A>T single nucleotide variant not provided [RCV003708936] Chr15:48255791 [GRCh38]
Chr15:48547988 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1561-2A>G single nucleotide variant not provided [RCV003710402] Chr15:48247335 [GRCh38]
Chr15:48539532 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_000338.3(SLC12A1):c.1215+16T>C single nucleotide variant not provided [RCV003820559] Chr15:48235020 [GRCh38]
Chr15:48527217 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1419del (p.Glu473fs) deletion not provided [RCV003567363] Chr15:48244870 [GRCh38]
Chr15:48537067 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.2486-5A>T single nucleotide variant not provided [RCV003677977] Chr15:48285101 [GRCh38]
Chr15:48577298 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1285G>A (p.Val429Ile) single nucleotide variant not provided [RCV003732375] Chr15:48241584 [GRCh38]
Chr15:48533781 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.2296-14T>C single nucleotide variant not provided [RCV003847793] Chr15:48269644 [GRCh38]
Chr15:48561841 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2485+17T>C single nucleotide variant not provided [RCV003563557] Chr15:48274670 [GRCh38]
Chr15:48566867 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1560+4A>G single nucleotide variant not provided [RCV003675678] Chr15:48247020 [GRCh38]
Chr15:48539217 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_000338.3(SLC12A1):c.975+15A>G single nucleotide variant not provided [RCV003675816] Chr15:48230518 [GRCh38]
Chr15:48522715 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.303T>C (p.Phe101=) single nucleotide variant not provided [RCV003542726] Chr15:48208022 [GRCh38]
Chr15:48500219 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.51T>C (p.Asn17=) single nucleotide variant not provided [RCV003567645] Chr15:48207770 [GRCh38]
Chr15:48499967 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1950C>T (p.Asn650=) single nucleotide variant not provided [RCV003710635] Chr15:48255818 [GRCh38]
Chr15:48548015 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2629+14A>G single nucleotide variant not provided [RCV003704001] Chr15:48285263 [GRCh38]
Chr15:48577460 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2856T>C (p.Ile952=) single nucleotide variant not provided [RCV003734119] Chr15:48288499 [GRCh38]
Chr15:48580696 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.405C>T (p.His135=) single nucleotide variant not provided [RCV003863005] Chr15:48208124 [GRCh38]
Chr15:48500321 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1216-5del deletion not provided [RCV003674828] Chr15:48241504 [GRCh38]
Chr15:48533701 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.864+17C>T single nucleotide variant not provided [RCV003706565] Chr15:48229345 [GRCh38]
Chr15:48521542 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2874-11del deletion not provided [RCV003822288] Chr15:48291764 [GRCh38]
Chr15:48583961 [GRCh37]
Chr15:15q21.1		 benign
NM_000338.3(SLC12A1):c.855T>C (p.Asp285=) single nucleotide variant not provided [RCV003729995] Chr15:48229319 [GRCh38]
Chr15:48521516 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.3141C>G (p.Ser1047=) single nucleotide variant not provided [RCV003844854] Chr15:48301359 [GRCh38]
Chr15:48593556 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1216-1G>A single nucleotide variant not provided [RCV003709514] Chr15:48241514 [GRCh38]
Chr15:48533711 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_000338.3(SLC12A1):c.2629+9T>C single nucleotide variant not provided [RCV003710912] Chr15:48285258 [GRCh38]
Chr15:48577455 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.3037T>C (p.Leu1013=) single nucleotide variant not provided [RCV003550676] Chr15:48299216 [GRCh38]
Chr15:48591413 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1983G>A (p.Val661=) single nucleotide variant not provided [RCV003821384] Chr15:48255851 [GRCh38]
Chr15:48548048 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1356G>A (p.Gly452=) single nucleotide variant not provided [RCV003708031] Chr15:48244808 [GRCh38]
Chr15:48537005 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.847_848del (p.Val283fs) deletion not provided [RCV003822723] Chr15:48229310..48229311 [GRCh38]
Chr15:48521507..48521508 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.2403-13C>T single nucleotide variant not provided [RCV003704470] Chr15:48274558 [GRCh38]
Chr15:48566755 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2154+20del deletion not provided [RCV003863318] Chr15:48259331 [GRCh38]
Chr15:48551528 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2139C>T (p.Cys713=) single nucleotide variant not provided [RCV003568226] Chr15:48259296 [GRCh38]
Chr15:48551493 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1194C>T (p.Ala398=) single nucleotide variant not provided [RCV003854173] Chr15:48234983 [GRCh38]
Chr15:48527180 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.553-15del deletion not provided [RCV003866670] Chr15:48220905 [GRCh38]
Chr15:48513102 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.2244T>G (p.Tyr748Ter) single nucleotide variant not provided [RCV003552199] Chr15:48267650 [GRCh38]
Chr15:48559847 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.3098del (p.Ser1033fs) deletion not provided [RCV003562987] Chr15:48301316 [GRCh38]
Chr15:48593513 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_000338.3(SLC12A1):c.1962C>G (p.Ser654=) single nucleotide variant not provided [RCV003729169] Chr15:48255830 [GRCh38]
Chr15:48548027 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.*5T>G single nucleotide variant SLC12A1-related condition [RCV003934711] Chr15:48302890 [GRCh38]
Chr15:48595087 [GRCh37]
Chr15:15q21.1		 likely benign
NM_000338.3(SLC12A1):c.1166C>T (p.Pro389Leu) single nucleotide variant Bartter disease type 1 [RCV003989013] Chr15:48234955 [GRCh38]
Chr15:48527152 [GRCh37]		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1690
Count of miRNA genes:773
Interacting mature miRNAs:865
Transcripts:ENST00000330289, ENST00000380993, ENST00000396577, ENST00000558252, ENST00000558405, ENST00000558805, ENST00000559641, ENST00000559723, ENST00000560692, ENST00000561031, ENST00000561127
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
D15S1024  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371548,552,488 - 48,552,741UniSTSGRCh37
Build 361546,339,780 - 46,340,033RGDNCBI36
Celera1525,444,995 - 25,445,248RGD
Cytogenetic Map15q15-q21.1UniSTS
HuRef1525,385,514 - 25,385,771UniSTS
Marshfield Genetic Map1545.62RGD
Marshfield Genetic Map1545.62UniSTS
Genethon Genetic Map1545.5UniSTS


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 11
Medium 1 1 1 1 149 9
Low 1 199 198 33 81 33 66 1 1044 50 307 8 1
Below cutoff 1720 2050 1070 362 931 231 3459 1518 2503 86 822 929 131 1079 2263 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_021301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001184832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001384136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA917702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB032525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB032526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB032527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC023355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC066612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ005331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ005332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ005333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS223391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA632985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF559316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U58130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000330289   ⟹   ENSP00000331550
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1548,207,534 - 48,237,349 (+)Ensembl
RefSeq Acc Id: ENST00000380993   ⟹   ENSP00000370381
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1548,206,302 - 48,304,078 (+)Ensembl
RefSeq Acc Id: ENST00000396577   ⟹   ENSP00000379822
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1548,206,302 - 48,304,078 (+)Ensembl
RefSeq Acc Id: ENST00000558252
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1548,222,328 - 48,304,076 (+)Ensembl
RefSeq Acc Id: ENST00000558805
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1548,232,725 - 48,235,344 (+)Ensembl
RefSeq Acc Id: ENST00000559641   ⟹   ENSP00000453230
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1548,191,765 - 48,285,127 (+)Ensembl
RefSeq Acc Id: ENST00000559723
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1548,225,851 - 48,234,925 (+)Ensembl
RefSeq Acc Id: ENST00000560692
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1548,224,326 - 48,304,078 (+)Ensembl
RefSeq Acc Id: ENST00000561031   ⟹   ENSP00000454178
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1548,207,720 - 48,221,445 (+)Ensembl
RefSeq Acc Id: ENST00000561127   ⟹   ENSP00000453602
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1548,191,664 - 48,230,430 (+)Ensembl
RefSeq Acc Id: ENST00000646012   ⟹   ENSP00000495813
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1548,191,648 - 48,303,718 (+)Ensembl
RefSeq Acc Id: ENST00000647232   ⟹   ENSP00000493875
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1548,178,438 - 48,303,786 (+)Ensembl
RefSeq Acc Id: ENST00000647546   ⟹   ENSP00000495332
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1548,191,682 - 48,304,078 (+)Ensembl
RefSeq Acc Id: ENST00000686073   ⟹   ENSP00000508901
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1548,206,302 - 48,304,078 (+)Ensembl
RefSeq Acc Id: NM_000338   ⟹   NP_000329
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381548,206,302 - 48,304,078 (+)NCBI
GRCh371548,498,498 - 48,596,275 (+)ENTREZGENE
GRCh371548,498,498 - 48,596,275 (+)NCBI
Build 361546,285,790 - 46,383,567 (+)NCBI Archive
HuRef1525,331,539 - 25,429,297 (+)ENTREZGENE
CHM1_11548,616,680 - 48,714,374 (+)NCBI
T2T-CHM13v2.01546,014,393 - 46,112,359 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001184832   ⟹   NP_001171761
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381548,206,302 - 48,304,078 (+)NCBI
GRCh371548,498,498 - 48,596,275 (+)NCBI
HuRef1525,331,539 - 25,429,297 (+)ENTREZGENE
CHM1_11548,616,680 - 48,714,374 (+)NCBI
T2T-CHM13v2.01546,014,393 - 46,112,359 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001384136   ⟹   NP_001371065
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381548,206,302 - 48,304,078 (+)NCBI
T2T-CHM13v2.01546,014,393 - 46,112,359 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_000329   ⟸   NM_000338
- Peptide Label: isoform A
- UniProtKB: A8JYA2 (UniProtKB/Swiss-Prot),   E9PDW4 (UniProtKB/Swiss-Prot),   Q13621 (UniProtKB/Swiss-Prot),   A0A2R8Y6V7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001171761   ⟸   NM_001184832
- Peptide Label: isoform F
- UniProtKB: A0A2R8Y6V7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000453230   ⟸   ENST00000559641
RefSeq Acc Id: ENSP00000454178   ⟸   ENST00000561031
RefSeq Acc Id: ENSP00000453602   ⟸   ENST00000561127
RefSeq Acc Id: ENSP00000370381   ⟸   ENST00000380993
RefSeq Acc Id: ENSP00000495813   ⟸   ENST00000646012
RefSeq Acc Id: ENSP00000379822   ⟸   ENST00000396577
RefSeq Acc Id: ENSP00000493875   ⟸   ENST00000647232
RefSeq Acc Id: ENSP00000331550   ⟸   ENST00000330289
RefSeq Acc Id: ENSP00000495332   ⟸   ENST00000647546
RefSeq Acc Id: NP_001371065   ⟸   NM_001384136
- Peptide Label: isoform B
- UniProtKB: A0A8I5KSK6 (UniProtKB/TrEMBL),   A0A2R8Y6V7 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000508901   ⟸   ENST00000686073
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-Q13621-F1-model_v2 AlphaFold Q13621 1-1099 view protein structure

Promoters
RGD ID:7229423
Promoter ID:EPDNEW_H20456
Type:multiple initiation site
Name:SLC12A1_2
Description:solute carrier family 12 member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20455  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381548,206,302 - 48,206,362EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10910 AgrOrtholog
COSMIC SLC12A1 COSMIC
Ensembl Genes ENSG00000074803 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000330289.10 UniProtKB/TrEMBL
  ENST00000380993 ENTREZGENE
  ENST00000380993.8 UniProtKB/Swiss-Prot
  ENST00000396577 ENTREZGENE
  ENST00000396577.7 UniProtKB/Swiss-Prot
  ENST00000559641.5 UniProtKB/TrEMBL
  ENST00000561031.1 UniProtKB/TrEMBL
  ENST00000561127.5 UniProtKB/TrEMBL
  ENST00000646012.1 UniProtKB/TrEMBL
  ENST00000647232.1 UniProtKB/Swiss-Prot
  ENST00000647546.1 UniProtKB/Swiss-Prot
  ENST00000686073 ENTREZGENE
  ENST00000686073.1 UniProtKB/TrEMBL
Gene3D-CATH Amino acid/polyamine transporter I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000074803 GTEx
HGNC ID HGNC:10910 ENTREZGENE
Human Proteome Map SLC12A1 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
  Slc12a1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SLC12A1/SLC12A2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SLC12A_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6557 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 6557 ENTREZGENE
OMIM 600839 OMIM
PANTHER PTHR11827 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SOLUTE CARRIER FAMILY 12 MEMBER 1 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 PA320 PharmGKB, RGD
PRINTS NAKCLTRNSPRT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAKCLTRSPRT2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2R8Y6V7 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I5KSK6 ENTREZGENE, UniProtKB/TrEMBL
  A8JYA2 ENTREZGENE
  B4DPF4_HUMAN UniProtKB/TrEMBL
  E9PDW4 ENTREZGENE
  H0YLJ2_HUMAN UniProtKB/TrEMBL
  H0YMG9_HUMAN UniProtKB/TrEMBL
  H0YNW0_HUMAN UniProtKB/TrEMBL
  L8E9E3_HUMAN UniProtKB/TrEMBL
  Q13621 ENTREZGENE
  Q8IUN5_HUMAN UniProtKB/TrEMBL
  S12A1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A8JYA2 UniProtKB/Swiss-Prot
  E9PDW4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-08 SLC12A1  solute carrier family 12 member 1    solute carrier family 12 (sodium/potassium/chloride transporter), member 1  Symbol and/or name change 5135510 APPROVED
2013-07-23 SLC12A1  solute carrier family 12 (sodium/potassium/chloride transporter), member 1    solute carrier family 12 (sodium/potassium/chloride transporters), member 1  Symbol and/or name change 5135510 APPROVED