SCNN1B (sodium channel epithelial 1 subunit beta) - Rat Genome Database

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Gene: SCNN1B (sodium channel epithelial 1 subunit beta) Homo sapiens
Analyze
Symbol: SCNN1B
Name: sodium channel epithelial 1 subunit beta
RGD ID: 734263
HGNC Page HGNC:10600
Description: Enables WW domain binding activity. Contributes to sodium channel activity. Involved in several processes, including cellular response to acidic pH; intracellular sodium ion homeostasis; and sodium ion import across plasma membrane. Located in extracellular exosome and plasma membrane. Part of sodium channel complex. Is active in apical plasma membrane. Implicated in Liddle syndrome; bronchiectasis 1; and pseudohypoaldosteronism.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: amiloride-sensitive sodium channel subunit beta; amiloride-sensitive sodium channel subunit beta 1; BESC1; beta-ENaC; beta-NaCH; ENaCb; ENaCbeta; epithelial Na(+) channel subunit beta; epithelial sodium channel beta-2 subunit; epithelial sodium channel beta-3 subunit; LIDLS1; mutant sodium channel epithelial 1 beta subunit; nasal epithelial sodium channel beta subunit; nonvoltage-gated sodium channel 1 subunit beta; PHA1B2; SCNEB; sodium channel epithelial 1 beta subunit; sodium channel, non voltage gated 1 beta subunit; sodium channel, non-voltage-gated 1, beta subunit; sodium channel, nonvoltage-gated 1, beta
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381623,278,231 - 23,381,294 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1623,278,231 - 23,381,294 (+)EnsemblGRCh38hg38GRCh38
GRCh371623,313,623 - 23,392,615 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361623,221,092 - 23,300,121 (+)NCBINCBI36Build 36hg18NCBI36
Build 341623,221,140 - 23,300,117NCBI
Celera1622,091,376 - 22,169,881 (+)NCBICelera
Cytogenetic Map16p12.2NCBI
HuRef1621,402,990 - 21,480,744 (+)NCBIHuRef
CHM1_11624,325,334 - 24,404,340 (+)NCBICHM1_1
T2T-CHM13v2.01623,554,125 - 23,657,344 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2-hydroxypropanoic acid  (EXP)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
4,4'-sulfonyldiphenol  (EXP)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
8-(4-chlorophenylthio)-cAMP  (ISO)
8-(4-chlorophenylthio)-cGMP  (EXP)
8-bromo-3',5'-cyclic GMP  (ISO)
acrylamide  (ISO)
actinomycin D  (EXP)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
aldosterone  (EXP)
alpha-Zearalanol  (ISO)
amiloride  (EXP,ISO)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
Azoxymethane  (ISO)
benzo[a]pyrene  (EXP)
benzo[e]pyrene  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
brefeldin A  (ISO)
cadmium dichloride  (EXP)
calcitriol  (EXP)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
clothianidin  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) chloride  (EXP)
cortisol  (EXP)
desmopressin  (ISO)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
dioxygen  (ISO)
diquat  (ISO)
flavonoids  (ISO)
furan  (ISO)
genistein  (ISO)
gentamycin  (ISO)
hydralazine  (EXP)
iodide salt  (ISO)
lead diacetate  (EXP)
lithium atom  (EXP)
lithium hydride  (EXP)
mercury dichloride  (ISO)
methapyrilene  (EXP)
methylparaben  (EXP)
nickel atom  (EXP)
nitrates  (ISO)
paraquat  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
pirinixic acid  (EXP)
potassium atom  (EXP)
progesterone  (ISO)
propylparaben  (EXP)
rac-lactic acid  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP)
sodium atom  (EXP,ISO)
sodium fluoride  (ISO)
sotorasib  (EXP)
terbutaline  (ISO)
testosterone  (EXP,ISO)
tetrachloromethane  (ISO)
Theaflavin 3,3'-digallate  (EXP)
thiourea  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
trametinib  (EXP)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal circulating aldosterone concentration  (IAGP)
Abnormal respiratory system physiology  (IAGP)
Abnormality of exocrine pancreas physiology  (IAGP)
Acute infectious pneumonia  (IAGP)
Arrhythmia  (IAGP)
Atopic dermatitis  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bronchiectasis  (IAGP)
Cachexia  (IAGP)
Cerebral ischemia  (IAGP)
Chest pain  (IAGP)
Childhood onset  (IAGP)
Cholelithiasis  (IAGP)
Chronic bronchitis  (IAGP)
Clubbing  (IAGP)
Constipation  (IAGP)
Cough  (IAGP)
Crackles  (IAGP)
Decreased circulating aldosterone concentration  (IAGP)
Decreased circulating renin concentration  (IAGP)
Dehydration  (IAGP)
Dyspnea  (IAGP)
Elevated sweat chloride  (IAGP)
Emphysema  (IAGP)
Failure to thrive in infancy  (IAGP)
Fatigue  (IAGP)
Feeding difficulties in infancy  (IAGP)
Fever  (IAGP)
Glucocortocoid-insensitive primary hyperaldosteronism  (IAGP)
Halitosis  (IAGP)
Hemoptysis  (IAGP)
Hyperkalemia  (IAGP)
Hypertension  (IAGP)
Hypokalemia  (IAGP)
Hypokalemic alkalosis  (IAGP)
Hyponatremia  (IAGP)
Hypotension  (IAGP)
Hypovolemic shock  (IAGP)
Increased circulating aldosterone concentration  (IAGP)
Increased circulating renin concentration  (IAGP)
Juvenile onset  (IAGP)
Metabolic acidosis  (IAGP)
Muscle weakness  (IAGP)
Myocardial infarction  (IAGP)
Neonatal onset  (IAGP)
Nephropathy  (IAGP)
Osteomyelitis  (IAGP)
Productive cough  (IAGP)
Proportionate short stature  (IAGP)
Pustule  (IAGP)
Recurrent Haemophilus influenzae infections  (IAGP)
Recurrent lower respiratory tract infections  (IAGP)
Recurrent tonsillitis  (IAGP)
Recurrent upper and lower respiratory tract infections  (IAGP)
Reduced FEV1/FVC ratio  (IAGP)
Renal insufficiency  (IAGP)
Respiratory tract infection  (IAGP)
Schizophrenia  (IAGP)
Vomiting  (IAGP)
Weight loss  (IAGP)
Wheezing  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1. Chang SS, etal., Nat Genet. 1996 Mar;12(3):248-53.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Increased expression and apical targeting of renal ENaC subunits in puromycin aminonucleoside-induced nephrotic syndrome in rats. Kim SW, etal., Am J Physiol Renal Physiol. 2004 May;286(5):F922-35. Epub 2004 Jan 6.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
6. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
7. A mouse model for Liddle's syndrome. Pradervand S, etal., J Am Soc Nephrol 1999 Dec;10(12):2527-33.
8. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
10. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
11. Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel. Shimkets RA, etal., Cell. 1994 Nov 4;79(3):407-14.
Additional References at PubMed
PMID:7490094   PMID:7499195   PMID:7550319   PMID:7762608   PMID:8521520   PMID:8524790   PMID:8601645   PMID:8986818   PMID:9118951   PMID:9169421   PMID:9626162   PMID:9674649  
PMID:9794716   PMID:9813171   PMID:10212229   PMID:10404817   PMID:10493829   PMID:10506918   PMID:10642508   PMID:10845103   PMID:11181995   PMID:11244092   PMID:11323714   PMID:11359767  
PMID:11375929   PMID:11470829   PMID:11567041   PMID:11802777   PMID:11826291   PMID:11845306   PMID:11863256   PMID:11906720   PMID:11934701   PMID:11997395   PMID:12107247   PMID:12167593  
PMID:12180079   PMID:12204893   PMID:12473861   PMID:12477932   PMID:12562778   PMID:12714866   PMID:12876068   PMID:14553964   PMID:14645214   PMID:14761957   PMID:14996668   PMID:15188166  
PMID:15198480   PMID:15326289   PMID:15327619   PMID:15328345   PMID:15483078   PMID:15489334   PMID:15596218   PMID:15661075   PMID:15814530   PMID:15853823   PMID:16416336   PMID:16423824  
PMID:16432044   PMID:16463024   PMID:16574660   PMID:16579800   PMID:16844684   PMID:16943574   PMID:17241874   PMID:17381423   PMID:17434346   PMID:17460608   PMID:17502380   PMID:17510235  
PMID:17560176   PMID:17586416   PMID:17766193   PMID:18004211   PMID:18174164   PMID:18184758   PMID:18398334   PMID:18443236   PMID:18507830   PMID:18639284   PMID:18665318   PMID:18701608  
PMID:18990692   PMID:19017867   PMID:19300301   PMID:19344079   PMID:19359370   PMID:19380724   PMID:19462466   PMID:19520916   PMID:19763606   PMID:19913121   PMID:19948975   PMID:19953087  
PMID:20106988   PMID:20237237   PMID:20424473   PMID:20519934   PMID:20628086   PMID:20675381   PMID:21107496   PMID:21307123   PMID:21525970   PMID:21562341   PMID:21654856   PMID:21700000  
PMID:21765395   PMID:21775436   PMID:21873635   PMID:21956615   PMID:22207244   PMID:22250980   PMID:22374202   PMID:22493497   PMID:22526458   PMID:22809657   PMID:22895453   PMID:22940131  
PMID:22983350   PMID:23060445   PMID:23218889   PMID:23297398   PMID:23594824   PMID:23977235   PMID:24124190   PMID:24419567   PMID:24553299   PMID:24888492   PMID:25173196   PMID:25231509  
PMID:25378078   PMID:25559464   PMID:25900089   PMID:26638596   PMID:26759146   PMID:26772908   PMID:27840946   PMID:27903760   PMID:27941075   PMID:28137758   PMID:28202509   PMID:28708422  
PMID:29036630   PMID:29358325   PMID:29419876   PMID:29580127   PMID:29757959   PMID:29997525   PMID:30632488   PMID:31018202   PMID:31532390   PMID:31586073   PMID:31936044   PMID:32341072  
PMID:32680508   PMID:32698182   PMID:32729833   PMID:33384439   PMID:33916525   PMID:34111567   PMID:34223773   PMID:34680949   PMID:35462606   PMID:36193739   PMID:36564468   PMID:36774301  
PMID:36899055   PMID:37477776   PMID:39009827   PMID:39415304  


Genomics

Comparative Map Data
SCNN1B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381623,278,231 - 23,381,294 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1623,278,231 - 23,381,294 (+)EnsemblGRCh38hg38GRCh38
GRCh371623,313,623 - 23,392,615 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361623,221,092 - 23,300,121 (+)NCBINCBI36Build 36hg18NCBI36
Build 341623,221,140 - 23,300,117NCBI
Celera1622,091,376 - 22,169,881 (+)NCBICelera
Cytogenetic Map16p12.2NCBI
HuRef1621,402,990 - 21,480,744 (+)NCBIHuRef
CHM1_11624,325,334 - 24,404,340 (+)NCBICHM1_1
T2T-CHM13v2.01623,554,125 - 23,657,344 (+)NCBIT2T-CHM13v2.0
Scnn1b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397121,464,261 - 121,517,951 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7121,464,261 - 121,517,737 (+)EnsemblGRCm39 Ensembl
GRCm387121,865,038 - 121,918,728 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7121,865,038 - 121,918,514 (+)EnsemblGRCm38mm10GRCm38
MGSCv377129,008,625 - 129,062,030 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367121,656,259 - 121,709,664 (+)NCBIMGSCv36mm8
Celera7121,788,233 - 121,808,466 (+)NCBICelera
Cytogenetic Map7F2NCBI
cM Map765.07NCBI
Scnn1b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81185,861,326 - 185,915,717 (+)NCBIGRCr8
mRatBN7.21176,430,063 - 176,484,451 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1176,430,103 - 176,484,451 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1184,757,955 - 184,812,267 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01191,943,901 - 191,998,213 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01184,627,931 - 184,682,270 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01191,829,547 - 191,883,991 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1191,829,555 - 191,884,298 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01198,932,512 - 198,953,453 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41180,682,622 - 180,748,068 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11180,822,536 - 180,887,983 (+)NCBI
Celera1174,140,255 - 174,194,462 (+)NCBICelera
Cytogenetic Map1q36NCBI
Scnn1b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554931,904,220 - 1,956,303 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554931,937,507 - 1,956,248 (+)NCBIChiLan1.0ChiLan1.0
SCNN1B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21824,712,414 - 24,794,054 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11629,231,645 - 29,312,685 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01614,728,834 - 14,809,072 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11623,555,391 - 23,634,873 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1623,555,388 - 23,634,873 (+)Ensemblpanpan1.1panPan2
SCNN1B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1622,439,643 - 22,481,349 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl622,439,643 - 22,481,349 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha624,003,147 - 24,044,601 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0622,579,419 - 22,621,104 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl622,579,419 - 22,621,104 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1622,383,826 - 22,425,285 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0622,286,935 - 22,328,601 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0622,681,830 - 22,723,544 (-)NCBIUU_Cfam_GSD_1.0
Scnn1b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344119,923,171 - 119,968,392 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365018,020,316 - 8,065,332 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365018,021,090 - 8,065,245 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SCNN1B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl322,832,262 - 22,902,063 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1322,832,259 - 22,902,592 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.210271,050 - 337,906 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SCNN1B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1521,021,181 - 21,107,746 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl521,022,133 - 21,107,824 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660688,719,000 - 8,805,239 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Scnn1b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247828,549,583 - 8,581,819 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247828,521,639 - 8,580,099 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SCNN1B
287 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
SCNN1B, 1-BP INS, 592C insertion Liddle syndrome 1 [RCV000009382] Chr16:16p13-p12 pathogenic
NM_000336.3(SCNN1B):c.1735_1766del (p.Ala579Leufs*4) deletion Liddle syndrome 1 [RCV000009383] Chr16:23380612..23380643 [GRCh38]
Chr16:23391933..23391964 [GRCh37]
Chr16:16p12.2
pathogenic
NM_000336.3(SCNN1B):c.1543-2A>G single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000009387] Chr16:23380419 [GRCh38]
Chr16:23391740 [GRCh37]
Chr16:16p12.2
pathogenic
NM_000336.3(SCNN1B):c.1747G>T (p.Glu583Ter) single nucleotide variant not provided [RCV000516654] Chr16:23380625 [GRCh38]
Chr16:23391946 [GRCh37]
Chr16:16p12.2
pathogenic
NM_000336.3(SCNN1B):c.1696C>T (p.Arg566Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002504771]|Liddle syndrome 1 [RCV000009378]|not provided [RCV000713386] Chr16:23380574 [GRCh38]
Chr16:23391895 [GRCh37]
Chr16:16p12.2
pathogenic
NM_000336.3(SCNN1B):c.1847C>T (p.Pro616Leu) single nucleotide variant Liddle syndrome 1 [RCV000009379]|not provided [RCV000713388] Chr16:23380725 [GRCh38]
Chr16:23392046 [GRCh37]
Chr16:16p12.2
pathogenic
NM_000336.3(SCNN1B):c.109G>A (p.Gly37Ser) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV001120139]|Liddle syndrome 1 [RCV001120417]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000009380]|Pseudohypoaldosteronism, type IB2, autosomal recessive [RCV002310627] Chr16:23348708 [GRCh38]
Chr16:23360029 [GRCh37]
Chr16:16p12.2
pathogenic|benign|uncertain significance
NM_000336.3(SCNN1B):c.1858T>C (p.Tyr620His) single nucleotide variant Liddle syndrome 1 [RCV000009381] Chr16:23380736 [GRCh38]
Chr16:23392057 [GRCh37]
Chr16:16p12.2
pathogenic
NM_000336.3(SCNN1B):c.1849C>T (p.Pro617Ser) single nucleotide variant Liddle syndrome 1 [RCV000009384]|not provided [RCV003555987] Chr16:23380727 [GRCh38]
Chr16:23392048 [GRCh37]
Chr16:16p12.2
pathogenic
NM_000336.3(SCNN1B):c.1847C>G (p.Pro616Arg) single nucleotide variant Liddle syndrome 1 [RCV000009385] Chr16:23380725 [GRCh38]
Chr16:23392046 [GRCh37]
Chr16:16p12.2
pathogenic
NM_000336.3(SCNN1B):c.800C>T (p.Pro267Leu) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000009386]|Bronchiectasis with or without elevated sweat chloride 1 [RCV002496312] Chr16:23367879 [GRCh38]
Chr16:23379200 [GRCh37]
Chr16:16p12.2
pathogenic|likely pathogenic
NM_000336.3(SCNN1B):c.880G>A (p.Gly294Ser) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000009388]|not provided [RCV000393349] Chr16:23367959 [GRCh38]
Chr16:23379280 [GRCh37]
Chr16:16p12.2
pathogenic|uncertain significance
NM_000336.3(SCNN1B):c.1615G>A (p.Glu539Lys) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000009389] Chr16:23380493 [GRCh38]
Chr16:23391814 [GRCh37]
Chr16:16p12.2
pathogenic
NM_000336.3(SCNN1B):c.1105C>A (p.Pro369Thr) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000009390]|not provided [RCV003555988] Chr16:23371836 [GRCh38]
Chr16:23383157 [GRCh37]
Chr16:16p12.2
pathogenic|uncertain significance
NM_000336.3(SCNN1B):c.863A>G (p.Asn288Ser) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000009391] Chr16:23367942 [GRCh38]
Chr16:23379263 [GRCh37]
Chr16:16p12.2
pathogenic
NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000009392]|Liddle syndrome 1 [RCV001120418]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001120419]|SCNN1B-related disorder [RCV003914823]|not provided [RCV000713389]|not specified [RCV000175586] Chr16:23348844 [GRCh38]
Chr16:23360165 [GRCh37]
Chr16:16p12.2
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3 copy number gain See cases [RCV000051828] Chr16:14954894..28306843 [GRCh38]
Chr16:15048751..28318164 [GRCh37]
Chr16:14956252..28225665 [NCBI36]
Chr16:16p13.11-12.1
pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:21463739-29249579)x3 copy number gain See cases [RCV000051829] Chr16:21463739..29249579 [GRCh38]
Chr16:21475060..29260900 [GRCh37]
Chr16:21382561..29168401 [NCBI36]
Chr16:16p12.2-11.2
pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:21602183-29314373)x3 copy number gain See cases [RCV000051842] Chr16:21602183..29314373 [GRCh38]
Chr16:21613504..29325694 [GRCh37]
Chr16:21521005..29233195 [NCBI36]
Chr16:16p12.2-11.2
pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3 copy number gain See cases [RCV000052401] Chr16:23047969..30632245 [GRCh38]
Chr16:23059290..30643566 [GRCh37]
Chr16:22966791..30551067 [NCBI36]
Chr16:16p12.2-11.2
pathogenic
GRCh38/hg38 16p12.2-12.1(chr16:21600992-28323344)x1 copy number loss See cases [RCV000052519] Chr16:21600992..28323344 [GRCh38]
Chr16:21612313..28334665 [GRCh37]
Chr16:21519814..28242166 [NCBI36]
Chr16:16p12.2-12.1
pathogenic
GRCh38/hg38 16p12.2(chr16:22755932-23546240)x3 copy number gain See cases [RCV000053859] Chr16:22755932..23546240 [GRCh38]
Chr16:22767253..23557561 [GRCh37]
Chr16:22674754..23465062 [NCBI36]
Chr16:16p12.2
uncertain significance
NM_000336.2(SCNN1B):c.735G>A (p.Met245Ile) single nucleotide variant Malignant melanoma [RCV000071047] Chr16:23355448 [GRCh38]
Chr16:23366769 [GRCh37]
Chr16:23274270 [NCBI36]
Chr16:16p12.2
not provided
NM_000336.3(SCNN1B):c.1732G>A (p.Val578Met) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002493525]|not provided [RCV001290363] Chr16:23380610 [GRCh38]
Chr16:23391931 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1731C>T (p.Thr577=) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002500469]|not provided [RCV000895424]|not specified [RCV000174469] Chr16:23380609 [GRCh38]
Chr16:23391930 [GRCh37]
Chr16:16p12.2
benign|likely benign
NM_000336.3(SCNN1B):c.1546G>A (p.Val516Ile) single nucleotide variant Inborn genetic diseases [RCV002541806]|not provided [RCV001290364] Chr16:23380424 [GRCh38]
Chr16:23391745 [GRCh37]
Chr16:16p12.2
uncertain significance
GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3 copy number gain See cases [RCV000133809] Chr16:4644892..29170820 [GRCh38]
Chr16:4694893..29182141 [GRCh37]
Chr16:4634894..29089642 [NCBI36]
Chr16:16p13.3-11.2
pathogenic
NM_000336.3(SCNN1B):c.1663C>T (p.Leu555=) single nucleotide variant not provided [RCV000174468] Chr16:23380541 [GRCh38]
Chr16:23391862 [GRCh37]
Chr16:16p12.2
conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 16p12.2-11.2(chr16:22634385-29227323)x3 copy number gain See cases [RCV000135594] Chr16:22634385..29227323 [GRCh38]
Chr16:22645706..29238644 [GRCh37]
Chr16:22553207..29146145 [NCBI36]
Chr16:16p12.2-11.2
likely pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:21350622-29202837)x3 copy number gain See cases [RCV000140235] Chr16:21350622..29202837 [GRCh38]
Chr16:21361943..29214158 [GRCh37]
Chr16:21269444..29121659 [NCBI36]
Chr16:16p12.2-11.2
likely pathogenic
NM_000336.3(SCNN1B):c.1305G>A (p.Ala435=) single nucleotide variant not provided [RCV000904588]|not specified [RCV000151815] Chr16:23377199 [GRCh38]
Chr16:23388520 [GRCh37]
Chr16:16p12.2
likely benign
NM_000336.3(SCNN1B):c.279T>C (p.Pro93=) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000307100]|Liddle syndrome 1 [RCV000361247]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000266524]|not provided [RCV001675638]|not specified [RCV000151814] Chr16:23348878 [GRCh38]
Chr16:23360199 [GRCh37]
Chr16:16p12.2
benign
NM_000336.3(SCNN1B):c.1401C>T (p.Ser467=) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000348729]|Liddle syndrome 1 [RCV000398815]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000312543]|not provided [RCV000713385]|not specified [RCV000151816] Chr16:23377383 [GRCh38]
Chr16:23388704 [GRCh37]
Chr16:16p12.2
benign|likely benign
NM_000336.3(SCNN1B):c.1467-14G>A single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000375553]|Liddle syndrome 1 [RCV000262269]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000320856]|not provided [RCV001668304]|not specified [RCV000151817] Chr16:23380080 [GRCh38]
Chr16:23391401 [GRCh37]
Chr16:16p12.2
benign
NM_000336.3(SCNN1B):c.1765G>A (p.Gly589Ser) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000274463]|Bronchiectasis with or without elevated sweat chloride 1 [RCV002498706]|Liddle syndrome 1 [RCV000389821]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000331370]|SCNN1B-related disorder [RCV003952727]|not provided [RCV000893164]|not specified [RCV000151818] Chr16:23380643 [GRCh38]
Chr16:23391964 [GRCh37]
Chr16:16p12.2
benign|likely benign
NM_000336.3(SCNN1B):c.879C>T (p.Phe293=) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000330995]|Liddle syndrome 1 [RCV000291151]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000385491]|not provided [RCV000713390]|not specified [RCV000155570] Chr16:23367958 [GRCh38]
Chr16:23379279 [GRCh37]
Chr16:16p12.2
benign
NM_000336.3(SCNN1B):c.1221A>G (p.Pro407=) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000300321]|Liddle syndrome 1 [RCV000355118]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000399158]|not provided [RCV003416010]|not specified [RCV000155571] Chr16:23375806 [GRCh38]
Chr16:23387127 [GRCh37]
Chr16:16p12.2
benign|likely benign|uncertain significance
NM_000336.3(SCNN1B):c.1325G>T (p.Gly442Val) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000281749]|Liddle syndrome 1 [RCV000397070]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000336811]|not provided [RCV000713384]|not specified [RCV000155572] Chr16:23377219 [GRCh38]
Chr16:23388540 [GRCh37]
Chr16:16p12.2
benign
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
GRCh37/hg19 16p12.3-11.2(chr16:19590412-29814175)x3 copy number gain Breast ductal adenocarcinoma [RCV000207226] Chr16:19590412..29814175 [GRCh37]
Chr16:16p12.3-11.2
uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Breast ductal adenocarcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2
uncertain significance
NM_000336.3(SCNN1B):c.1706C>T (p.Ala569Val) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000305202]|Liddle syndrome 1 [RCV000402338]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000344774]|SCNN1B-related disorder [RCV003937856]|not provided [RCV000901498]|not specified [RCV000220161] Chr16:23380584 [GRCh38]
Chr16:23391905 [GRCh37]
Chr16:16p12.2
benign|likely benign|uncertain significance
NM_000336.3(SCNN1B):c.777-5T>C single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000275967]|Liddle syndrome 1 [RCV000316419]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000371088]|SCNN1B-related disorder [RCV003937814]|not provided [RCV000891755]|not specified [RCV000220924] Chr16:23367851 [GRCh38]
Chr16:23379172 [GRCh37]
Chr16:16p12.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_000336.3(SCNN1B):c.1074C>A (p.Tyr358Ter) single nucleotide variant Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000578168] Chr16:23371805 [GRCh38]
Chr16:23383126 [GRCh37]
Chr16:16p12.2
likely pathogenic
NM_000336.3(SCNN1B):c.1789del (p.Arg597fs) deletion not provided [RCV000517767] Chr16:23380662 [GRCh38]
Chr16:23391983 [GRCh37]
Chr16:16p12.2
pathogenic
NM_000336.3(SCNN1B):c.1782G>A (p.Thr594=) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000344304]|Liddle syndrome 1 [RCV000291629]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000383556]|SCNN1B-related disorder [RCV003891846]|not provided [RCV000889481]|not specified [RCV000246031] Chr16:23380660 [GRCh38]
Chr16:23391981 [GRCh37]
Chr16:16p12.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_000336.3(SCNN1B):c.1299C>T (p.Ser433=) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002479958]|not provided [RCV002518574]|not specified [RCV000248527] Chr16:23377193 [GRCh38]
Chr16:23388514 [GRCh37]
Chr16:16p12.2
likely benign
NM_000336.3(SCNN1B):c.1543-17C>T single nucleotide variant not provided [RCV000710222]|not specified [RCV000249045] Chr16:23380404 [GRCh38]
Chr16:23391725 [GRCh37]
Chr16:16p12.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_000336.3(SCNN1B):c.1115A>T (p.Asn372Ile) single nucleotide variant not provided [RCV000521539] Chr16:23371846 [GRCh38]
Chr16:23383167 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1419C>T (p.His473=) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000265772]|Liddle syndrome 1 [RCV000305530]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000360291]|not provided [RCV002520995] Chr16:23378720 [GRCh38]
Chr16:23390041 [GRCh37]
Chr16:16p12.2
benign|likely benign|uncertain significance
NM_000336.3(SCNN1B):c.753C>T (p.Phe251=) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000301037]|Liddle syndrome 1 [RCV000391939]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000359362] Chr16:23355466 [GRCh38]
Chr16:23366787 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1887C>T (p.Asp629=) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000394686]|Liddle syndrome 1 [RCV000284147]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000336877]|not provided [RCV000891576]|not specified [RCV001289233] Chr16:23380765 [GRCh38]
Chr16:23392086 [GRCh37]
Chr16:16p12.2
benign|likely benign|uncertain significance
NM_000336.3(SCNN1B):c.1162C>T (p.Arg388Cys) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000285007]|Liddle syndrome 1 [RCV000397823]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000340036]|not provided [RCV000713383] Chr16:23375747 [GRCh38]
Chr16:23387068 [GRCh37]
Chr16:16p12.2
benign|likely benign
NM_000336.3(SCNN1B):c.1883T>A (p.Leu628Gln) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000343345]|Liddle syndrome 1 [RCV000286095]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000382570]|SCNN1B-related disorder [RCV003940246]|not provided [RCV000912484] Chr16:23380761 [GRCh38]
Chr16:23392082 [GRCh37]
Chr16:16p12.2
benign|likely benign
NM_000336.3(SCNN1B):c.586-15T>C single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000401503]|Liddle syndrome 1 [RCV000304551]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000345224] Chr16:23355284 [GRCh38]
Chr16:23366605 [GRCh37]
Chr16:16p12.2
likely benign|uncertain significance
NM_000336.3(SCNN1B):c.*278C>T single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000374371]|Liddle syndrome 1 [RCV000320773]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000286820] Chr16:23381079 [GRCh38]
Chr16:23392400 [GRCh37]
Chr16:16p12.2
likely benign|uncertain significance
NM_000336.3(SCNN1B):c.246C>T (p.Ser82=) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000365127]|Liddle syndrome 1 [RCV000310527]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000270676] Chr16:23348845 [GRCh38]
Chr16:23360166 [GRCh37]
Chr16:16p12.2
likely benign|uncertain significance
NM_000336.3(SCNN1B):c.1270+14C>T single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000326826]|Liddle syndrome 1 [RCV000381470]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000271759]|not provided [RCV002522833] Chr16:23375869 [GRCh38]
Chr16:23387190 [GRCh37]
Chr16:16p12.2
benign|likely benign|uncertain significance
NM_000336.3(SCNN1B):c.*94G>A single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000327640]|Liddle syndrome 1 [RCV000365907]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000274910] Chr16:23380895 [GRCh38]
Chr16:23392216 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1270+11G>T single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000275114]|Liddle syndrome 1 [RCV000366256]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000330301] Chr16:23375866 [GRCh38]
Chr16:23387187 [GRCh37]
Chr16:16p12.2
likely benign|uncertain significance
NM_000336.3(SCNN1B):c.1545C>T (p.Ile515=) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000385551]|Liddle syndrome 1 [RCV000352019]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000293600]|SCNN1B-related disorder [RCV003922341]|not provided [RCV000891159] Chr16:23380423 [GRCh38]
Chr16:23391744 [GRCh37]
Chr16:16p12.2
benign|likely benign|uncertain significance
NM_000336.3(SCNN1B):c.466C>T (p.Arg156Trp) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000293856]|Liddle syndrome 1 [RCV000388075]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000352207]|SCNN1B-related disorder [RCV003940245]|not provided [RCV001171907] Chr16:23352955 [GRCh38]
Chr16:23364276 [GRCh37]
Chr16:16p12.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000336.3(SCNN1B):c.1514G>A (p.Arg505His) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000372180]|Liddle syndrome 1 [RCV000317498]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000294815]|not provided [RCV002520996] Chr16:23380141 [GRCh38]
Chr16:23391462 [GRCh37]
Chr16:16p12.2
benign|uncertain significance
NM_000336.3(SCNN1B):c.1346+8C>T single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000399676]|Liddle syndrome 1 [RCV000278059]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000351861]|not provided [RCV000916155] Chr16:23377248 [GRCh38]
Chr16:23388569 [GRCh37]
Chr16:16p12.2
benign|likely benign|uncertain significance
NM_000336.3(SCNN1B):c.428C>T (p.Ser143Phe) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000318042]|Liddle syndrome 1 [RCV000372576]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000278132]|not provided [RCV003736715] Chr16:23352917 [GRCh38]
Chr16:23364238 [GRCh37]
Chr16:16p12.2
likely benign|uncertain significance
NM_000336.3(SCNN1B):c.1900G>C (p.Asp634His) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000399722]|Inborn genetic diseases [RCV002520998]|Liddle syndrome 1 [RCV000297058]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000354087]|not provided [RCV002522834] Chr16:23380778 [GRCh38]
Chr16:23392099 [GRCh37]
Chr16:16p12.2
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000336.3(SCNN1B):c.1764T>C (p.Phe588=) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000333082]|Liddle syndrome 1 [RCV000261497]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000353782]|not provided [RCV000908558] Chr16:23380642 [GRCh38]
Chr16:23391963 [GRCh37]
Chr16:16p12.2
likely benign|uncertain significance
NM_000336.3(SCNN1B):c.1713C>T (p.Tyr571=) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000359654]|Liddle syndrome 1 [RCV000301289]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000262545]|not provided [RCV000920461] Chr16:23380591 [GRCh38]
Chr16:23391912 [GRCh37]
Chr16:16p12.2
likely benign|uncertain significance
NM_000336.3(SCNN1B):c.282C>T (p.Ala94=) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000262842]|Bronchiectasis with or without elevated sweat chloride 1 [RCV002502240]|Liddle syndrome 1 [RCV000376195]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000321598]|not provided [RCV000881904]|not specified [RCV001289235] Chr16:23348881 [GRCh38]
Chr16:23360202 [GRCh37]
Chr16:16p12.2
benign|likely benign
NM_000336.3(SCNN1B):c.1404+15G>A single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000308877]|Liddle syndrome 1 [RCV000363805]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000269225] Chr16:23377401 [GRCh38]
Chr16:23388722 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1686A>G (p.Leu562=) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000395462]|Liddle syndrome 1 [RCV000306294]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000346058]|not provided [RCV002520997] Chr16:23380564 [GRCh38]
Chr16:23391885 [GRCh37]
Chr16:16p12.2
benign|likely benign|uncertain significance
NM_000336.3(SCNN1B):c.561C>T (p.His187=) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000348803]|Liddle syndrome 1 [RCV000309103]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000395260]|not provided [RCV003114480] Chr16:23353050 [GRCh38]
Chr16:23364371 [GRCh37]
Chr16:16p12.2
likely benign|uncertain significance
NM_000336.2(SCNN1B):c.-150C>G single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000311627]|Liddle syndrome 1 [RCV000400480]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000368761] Chr16:23302296 [GRCh38]
Chr16:23313617 [GRCh37]
Chr16:16p12.2
likely benign
NM_000336.3(SCNN1B):c.159C>T (p.Phe53=) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000313964]|Liddle syndrome 1 [RCV000390237]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000350003] Chr16:23348758 [GRCh38]
Chr16:23360079 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.*20G>A single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000366871]|Liddle syndrome 1 [RCV000401685]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000314495] Chr16:23380821 [GRCh38]
Chr16:23392142 [GRCh37]
Chr16:16p12.2
likely benign
NM_000336.3(SCNN1B):c.1257C>T (p.Asp419=) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000369771]|Bronchiectasis with or without elevated sweat chloride 1 [RCV002495003]|Liddle syndrome 1 [RCV000401078]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000315485]|not provided [RCV000913285] Chr16:23375842 [GRCh38]
Chr16:23387163 [GRCh37]
Chr16:16p12.2
benign|likely benign
NM_000336.3(SCNN1B):c.*187G>A single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000268991]|Liddle syndrome 1 [RCV000378896]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000326589] Chr16:23380988 [GRCh38]
Chr16:23392309 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1738G>T (p.Glu580Ter) single nucleotide variant not provided [RCV000523965] Chr16:23380616 [GRCh38]
Chr16:23391937 [GRCh37]
Chr16:16p12.2
likely pathogenic
NM_000336.3(SCNN1B):c.530G>A (p.Ser177Asn) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002493463]|Liddle syndrome 1 [RCV001270870] Chr16:23353019 [GRCh38]
Chr16:23364340 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1271-10T>C single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV000287155]|Liddle syndrome 1 [RCV000376265]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000321654] Chr16:23377155 [GRCh38]
Chr16:23388476 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.903A>G (p.Ile301Met) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002476287]|not provided [RCV000596123] Chr16:23371321 [GRCh38]
Chr16:23382642 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1789C>T (p.Arg597Cys) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV001120922]|Liddle syndrome 1 [RCV001120924]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001120923]|not provided [RCV002556598] Chr16:23380667 [GRCh38]
Chr16:23391988 [GRCh37]
Chr16:16p12.2
likely benign|uncertain significance
NM_000336.3(SCNN1B):c.918C>T (p.Tyr306=) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV001120622]|Liddle syndrome 1 [RCV001120623]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001120624] Chr16:23371336 [GRCh38]
Chr16:23382657 [GRCh37]
Chr16:16p12.2
benign|uncertain significance
NM_000336.3(SCNN1B):c.1560G>A (p.Ser520=) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV001120820]|Liddle syndrome 1 [RCV001120821]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001120822] Chr16:23380438 [GRCh38]
Chr16:23391759 [GRCh37]
Chr16:16p12.2
benign|uncertain significance
NM_000336.3(SCNN1B):c.467G>A (p.Arg156Gln) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV001120222]|Liddle syndrome 1 [RCV001120223]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001120221] Chr16:23352956 [GRCh38]
Chr16:23364277 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1595G>A (p.Gly532Asp) single nucleotide variant not specified [RCV000518568] Chr16:23380473 [GRCh38]
Chr16:23391794 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1904G>A (p.Ser635Asn) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002506417]|not provided [RCV000594991]|not specified [RCV003317295] Chr16:23380782 [GRCh38]
Chr16:23392103 [GRCh37]
Chr16:16p12.2
uncertain significance
GRCh37/hg19 16p12.2(chr16:23315377-23355254)x3 copy number gain See cases [RCV000449184] Chr16:23315377..23355254 [GRCh37]
Chr16:16p12.2
likely benign
GRCh37/hg19 16p12.3-11.2(chr16:19424115-30142220)x3 copy number gain See cases [RCV000449403] Chr16:19424115..30142220 [GRCh37]
Chr16:16p12.3-11.2
pathogenic
GRCh37/hg19 16p12.2(chr16:23291211-23322012)x3 copy number gain See cases [RCV000446155] Chr16:23291211..23322012 [GRCh37]
Chr16:16p12.2
uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3
uncertain significance
GRCh37/hg19 16p12.2-11.2(chr16:22718350-28858721)x4 copy number gain See cases [RCV000511587] Chr16:22718350..28858721 [GRCh37]
Chr16:16p12.2-11.2
pathogenic
GRCh37/hg19 16p12.2-11.2(chr16:21596299-30399167)x1 copy number loss See cases [RCV000511271] Chr16:21596299..30399167 [GRCh37]
Chr16:16p12.2-11.2
pathogenic
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
NM_000336.3(SCNN1B):c.585+3A>C single nucleotide variant not provided [RCV003318118] Chr16:23353077 [GRCh38]
Chr16:23364398 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.278C>G (p.Pro93Arg) single nucleotide variant not provided [RCV000584958] Chr16:23348877 [GRCh38]
Chr16:23360198 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1554G>A (p.Leu518=) single nucleotide variant not specified [RCV000601262] Chr16:23380432 [GRCh38]
Chr16:23391753 [GRCh37]
Chr16:16p12.2
likely benign
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3 copy number gain See cases [RCV000512428] Chr16:18238275..30177240 [GRCh37]
Chr16:16p12.3-11.2
pathogenic
NM_000336.3(SCNN1B):c.1594G>A (p.Gly532Ser) single nucleotide variant Inborn genetic diseases [RCV000622350] Chr16:23380472 [GRCh38]
Chr16:23391793 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.833del (p.Gly278fs) deletion not provided [RCV000513425] Chr16:23367909 [GRCh38]
Chr16:23379230 [GRCh37]
Chr16:16p12.2
likely pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p12.2-11.2(chr16:21379628-29351826)x3 copy number gain See cases [RCV000512478] Chr16:21379628..29351826 [GRCh37]
Chr16:16p12.2-11.2
pathogenic
GRCh37/hg19 16p12.2-11.2(chr16:21379628-29379768)x1 copy number loss not provided [RCV000683786] Chr16:21379628..29379768 [GRCh37]
Chr16:16p12.2-11.2
pathogenic
GRCh37/hg19 16p12.2(chr16:23301285-23387637)x1 copy number loss not provided [RCV000683796] Chr16:23301285..23387637 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1688G>A (p.Arg563Gln) single nucleotide variant Low renin, low aldosterone hypertension [RCV000680441] Chr16:23380566 [GRCh38]
Chr16:23391887 [GRCh37]
Chr16:16p12.2
likely pathogenic
NM_000336.3(SCNN1B):c.1790_1791dup (p.Ser598fs) duplication not provided [RCV000713387] Chr16:23380666..23380667 [GRCh38]
Chr16:23391987..23391988 [GRCh37]
Chr16:16p12.2
pathogenic
NC_000016.9:g.21530207_29332245del deletion not provided [RCV001030428] Chr16:21530207..29332245 [GRCh37]
Chr16:16p12.2-11.2
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p12.2(chr16:23347304-23534098)x3 copy number gain not provided [RCV000739106] Chr16:23347304..23534098 [GRCh37]
Chr16:16p12.2
benign
NM_000336.3(SCNN1B):c.1271-71G>C single nucleotide variant not provided [RCV001535163] Chr16:23377094 [GRCh38]
Chr16:23388415 [GRCh37]
Chr16:16p12.2
benign
GRCh37/hg19 16p12.2-11.2(chr16:21475039-29043958)x1 copy number loss Chromosome 16p12.2-p11.2 deletion syndrome [RCV003315282] Chr16:21475039..29043958 [GRCh37]
Chr16:16p12.2-11.2
pathogenic
NM_000336.3(SCNN1B):c.1069C>A (p.Pro357Thr) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV001115711]|Liddle syndrome 1 [RCV001115713]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001115712] Chr16:23371800 [GRCh38]
Chr16:23383121 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1035G>A (p.Gly345=) single nucleotide variant not provided [RCV000982142] Chr16:23371453 [GRCh38]
Chr16:23382774 [GRCh37]
Chr16:16p12.2
likely benign
NM_000336.3(SCNN1B):c.147A>G (p.Lys49=) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002489418]|SCNN1B-related disorder [RCV003960853]|not provided [RCV000972526]|not specified [RCV001664580] Chr16:23348746 [GRCh38]
Chr16:23360067 [GRCh37]
Chr16:16p12.2
benign|likely benign
NM_000336.3(SCNN1B):c.1044+9G>A single nucleotide variant not provided [RCV000901193] Chr16:23371471 [GRCh38]
Chr16:23382792 [GRCh37]
Chr16:16p12.2
likely benign
NM_000336.3(SCNN1B):c.177C>T (p.Phe59=) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002502771]|not provided [RCV000916251] Chr16:23348776 [GRCh38]
Chr16:23360097 [GRCh37]
Chr16:16p12.2
likely benign
NM_000336.3(SCNN1B):c.1190G>T (p.Arg397Leu) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002505309]|not provided [RCV000902017] Chr16:23375775 [GRCh38]
Chr16:23387096 [GRCh37]
Chr16:16p12.2
likely benign
NM_000336.3(SCNN1B):c.1271-5C>T single nucleotide variant not provided [RCV000936764] Chr16:23377160 [GRCh38]
Chr16:23388481 [GRCh37]
Chr16:16p12.2
likely benign
NM_000336.3(SCNN1B):c.1781C>T (p.Thr594Met) single nucleotide variant not provided [RCV000881905]|not specified [RCV000825087] Chr16:23380659 [GRCh38]
Chr16:23391980 [GRCh37]
Chr16:16p12.2
benign|likely benign
NM_000336.3(SCNN1B):c.1229G>A (p.Arg410His) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV001117137]|Inborn genetic diseases [RCV002556487]|Liddle syndrome 1 [RCV001117139]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001117138]|not provided [RCV002558158] Chr16:23375814 [GRCh38]
Chr16:23387135 [GRCh37]
Chr16:16p12.2
likely benign|uncertain significance
NM_000336.3(SCNN1B):c.1560G>C (p.Ser520=) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV001115888]|Liddle syndrome 1 [RCV001115887]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001120823] Chr16:23380438 [GRCh38]
Chr16:23391759 [GRCh37]
Chr16:16p12.2
benign|uncertain significance
NM_000336.3(SCNN1B):c.*241G>A single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV001119053]|Liddle syndrome 1 [RCV001119054]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001119055] Chr16:23381042 [GRCh38]
Chr16:23392363 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1542+1G>A single nucleotide variant Pseudohypoaldosteronism, type IB2, autosomal recessive [RCV003229567]|SCNN1B-related disorder [RCV004751879]|not provided [RCV001090340] Chr16:23380170 [GRCh38]
Chr16:23391491 [GRCh37]
Chr16:16p12.2
pathogenic|likely pathogenic
NM_000336.3(SCNN1B):c.1760A>G (p.Asn587Ser) single nucleotide variant Liddle syndrome 1 [RCV000787042] Chr16:23380638 [GRCh38]
Chr16:23391959 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.6C>T (p.His2=) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV001120137]|Liddle syndrome 1 [RCV001120138]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001120136]|SCNN1B-related disorder [RCV003953497]|not provided [RCV002558190] Chr16:23348605 [GRCh38]
Chr16:23359926 [GRCh37]
Chr16:16p12.2
benign|likely benign|uncertain significance
NM_000336.3(SCNN1B):c.1005C>T (p.Tyr335=) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV001120627]|Liddle syndrome 1 [RCV001120626]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001120625]|not provided [RCV002556592] Chr16:23371423 [GRCh38]
Chr16:23382744 [GRCh37]
Chr16:16p12.2
benign|likely benign|uncertain significance
NM_000336.3(SCNN1B):c.776+9C>A single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV001115617]|Liddle syndrome 1 [RCV001115618]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001115619] Chr16:23355498 [GRCh38]
Chr16:23366819 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1554G>C (p.Leu518=) single nucleotide variant not provided [RCV000976066] Chr16:23380432 [GRCh38]
Chr16:23391753 [GRCh37]
Chr16:16p12.2
likely benign
GRCh37/hg19 16p12.2(chr16:23352066-23457583)x3 copy number gain not provided [RCV000848997] Chr16:23352066..23457583 [GRCh37]
Chr16:16p12.2
uncertain significance
GRCh37/hg19 16p12.2-11.2(chr16:21312200-29646379)x3 copy number gain not provided [RCV001249228] Chr16:21312200..29646379 [GRCh37]
Chr16:16p12.2-11.2
not provided
NM_000336.3(SCNN1B):c.1852C>T (p.Pro618Ser) single nucleotide variant not provided [RCV000993038] Chr16:23380730 [GRCh38]
Chr16:23392051 [GRCh37]
Chr16:16p12.2
pathogenic
NM_000336.3(SCNN1B):c.1256A>T (p.Asp419Val) single nucleotide variant Liddle syndrome 1 [RCV001250510] Chr16:23375841 [GRCh38]
Chr16:23387162 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1404+7C>T single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV001117230]|Liddle syndrome 1 [RCV001117231]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001117229]|SCNN1B-related disorder [RCV003945827]|not provided [RCV003546626] Chr16:23377393 [GRCh38]
Chr16:23388714 [GRCh37]
Chr16:16p12.2
likely benign|uncertain significance
NM_000336.3(SCNN1B):c.241G>A (p.Val81Ile) single nucleotide variant not provided [RCV004787456] Chr16:23348840 [GRCh38]
Chr16:23360161 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1404+219del deletion not provided [RCV001568457] Chr16:23377604 [GRCh38]
Chr16:23388925 [GRCh37]
Chr16:16p12.2
likely benign
NM_000336.3(SCNN1B):c.585+228A>C single nucleotide variant not provided [RCV001551705] Chr16:23353302 [GRCh38]
Chr16:23364623 [GRCh37]
Chr16:16p12.2
likely benign
NM_000336.3(SCNN1B):c.1404+222T>C single nucleotide variant not provided [RCV001566938] Chr16:23377608 [GRCh38]
Chr16:23388929 [GRCh37]
Chr16:16p12.2
likely benign
NM_000336.3(SCNN1B):c.-9+238C>G single nucleotide variant not provided [RCV001657318] Chr16:23302675 [GRCh38]
Chr16:23313996 [GRCh37]
Chr16:16p12.2
benign
NM_000336.3(SCNN1B):c.1045-130C>T single nucleotide variant not provided [RCV001695248] Chr16:23371646 [GRCh38]
Chr16:23382967 [GRCh37]
Chr16:16p12.2
benign
NM_000336.3(SCNN1B):c.1270+217G>A single nucleotide variant not provided [RCV001682436] Chr16:23376072 [GRCh38]
Chr16:23387393 [GRCh37]
Chr16:16p12.2
benign
NM_000336.3(SCNN1B):c.776+41C>T single nucleotide variant not provided [RCV001558432] Chr16:23355530 [GRCh38]
Chr16:23366851 [GRCh37]
Chr16:16p12.2
likely benign
NM_000336.3(SCNN1B):c.657C>T (p.Tyr219=) single nucleotide variant not provided [RCV000888087] Chr16:23355370 [GRCh38]
Chr16:23366691 [GRCh37]
Chr16:16p12.2
likely benign
NM_000336.3(SCNN1B):c.1045-114del deletion not provided [RCV001537289] Chr16:23371662 [GRCh38]
Chr16:23382983 [GRCh37]
Chr16:16p12.2
benign
NM_000336.3(SCNN1B):c.181G>A (p.Ala61Thr) single nucleotide variant SCNN1B-related disorder [RCV003960854]|not provided [RCV000972527]|not specified [RCV001664581] Chr16:23348780 [GRCh38]
Chr16:23360101 [GRCh37]
Chr16:16p12.2
likely benign
NM_000336.3(SCNN1B):c.1869G>T (p.Leu623=) single nucleotide variant not provided [RCV000931292] Chr16:23380747 [GRCh38]
Chr16:23392068 [GRCh37]
Chr16:16p12.2
likely benign
NM_000336.3(SCNN1B):c.1199A>G (p.Asn400Ser) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV001115715]|Liddle syndrome 1 [RCV001117136]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001115714] Chr16:23375784 [GRCh38]
Chr16:23387105 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1376T>C (p.Met459Thr) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV001115795]|Inborn genetic diseases [RCV002556282]|Liddle syndrome 1 [RCV001115797]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001115796]|not provided [RCV001786435] Chr16:23377358 [GRCh38]
Chr16:23388679 [GRCh37]
Chr16:16p12.2
benign|uncertain significance
NM_000336.3(SCNN1B):c.1790G>A (p.Arg597His) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV001115997]|Liddle syndrome 1 [RCV001115998]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001115999] Chr16:23380668 [GRCh38]
Chr16:23391989 [GRCh37]
Chr16:16p12.2
benign|uncertain significance
NM_000336.3(SCNN1B):c.311+212T>A single nucleotide variant not provided [RCV001549378] Chr16:23349122 [GRCh38]
Chr16:23360443 [GRCh37]
Chr16:16p12.2
likely benign
NM_000336.3(SCNN1B):c.881-176G>A single nucleotide variant not provided [RCV001655944] Chr16:23371123 [GRCh38]
Chr16:23382444 [GRCh37]
Chr16:16p12.2
benign
GRCh37/hg19 16p12.2-11.2(chr16:21576802-29351826)x3 copy number gain not provided [RCV001006786] Chr16:21576802..29351826 [GRCh37]
Chr16:16p12.2-11.2
pathogenic
NM_000336.3(SCNN1B):c.1466+113G>C single nucleotide variant not provided [RCV001656735] Chr16:23378880 [GRCh38]
Chr16:23390201 [GRCh37]
Chr16:16p12.2
benign
NM_000336.3(SCNN1B):c.586-198G>A single nucleotide variant not provided [RCV001655211] Chr16:23355101 [GRCh38]
Chr16:23355101..23355102 [GRCh38]
Chr16:23366422 [GRCh37]
Chr16:23366422..23366423 [GRCh37]
Chr16:16p12.2
benign
NM_000336.3(SCNN1B):c.1044+126G>C single nucleotide variant not provided [RCV001654471] Chr16:23371588 [GRCh38]
Chr16:23382909 [GRCh37]
Chr16:16p12.2
benign
NM_000336.3(SCNN1B):c.1404+196_1404+202del deletion not provided [RCV001674739] Chr16:23377582..23377588 [GRCh38]
Chr16:23388903..23388909 [GRCh37]
Chr16:16p12.2
benign
NM_000336.3(SCNN1B):c.586-92C>G single nucleotide variant not provided [RCV001685271] Chr16:23355207 [GRCh38]
Chr16:23366528 [GRCh37]
Chr16:16p12.2
benign
NM_000336.3(SCNN1B):c.1152+10T>C single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002502008]|Pseudohypoaldosteronism, type IB2, autosomal recessive [RCV003229625]|not provided [RCV002539659]|not specified [RCV001663808] Chr16:23371893 [GRCh38]
Chr16:23383214 [GRCh37]
Chr16:16p12.2
benign|likely benign
NM_000336.3(SCNN1B):c.880+199T>C single nucleotide variant not provided [RCV001613515] Chr16:23368158 [GRCh38]
Chr16:23379479 [GRCh37]
Chr16:16p12.2
benign
NM_000336.3(SCNN1B):c.777-311G>A single nucleotide variant not provided [RCV001693672] Chr16:23367545 [GRCh38]
Chr16:23378866 [GRCh37]
Chr16:16p12.2
benign
NM_000336.3(SCNN1B):c.1404+207_1404+241del deletion not provided [RCV001656730] Chr16:23377592..23377626 [GRCh38]
Chr16:23388913..23388947 [GRCh37]
Chr16:16p12.2
benign
NM_000336.3(SCNN1B):c.1405-211A>G single nucleotide variant not provided [RCV001637922] Chr16:23378495 [GRCh38]
Chr16:23389816 [GRCh37]
Chr16:16p12.2
benign
NM_000336.3(SCNN1B):c.1467-215C>T single nucleotide variant not provided [RCV001658772] Chr16:23379879 [GRCh38]
Chr16:23391200 [GRCh37]
Chr16:16p12.2
likely benign
NM_000336.3(SCNN1B):c.748C>G (p.Leu250Val) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV001120528]|Liddle syndrome 1 [RCV001120529]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001120530] Chr16:23355461 [GRCh38]
Chr16:23366782 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1152+332G>A single nucleotide variant not provided [RCV001651854] Chr16:23372215 [GRCh38]
Chr16:23383536 [GRCh37]
Chr16:16p12.2
benign
NM_000336.3(SCNN1B):c.777-42C>T single nucleotide variant not provided [RCV001590450] Chr16:23367814 [GRCh38]
Chr16:23379135 [GRCh37]
Chr16:16p12.2
likely benign
NM_000336.3(SCNN1B):c.880+208C>T single nucleotide variant not provided [RCV001709761] Chr16:23368167 [GRCh38]
Chr16:23379488 [GRCh37]
Chr16:16p12.2
benign
NM_000336.3(SCNN1B):c.586-157G>T single nucleotide variant not provided [RCV001612537] Chr16:23355142 [GRCh38]
Chr16:23366463 [GRCh37]
Chr16:16p12.2
benign
NM_000336.3(SCNN1B):c.1271-231G>A single nucleotide variant not provided [RCV001696104] Chr16:23376934 [GRCh38]
Chr16:23388255 [GRCh37]
Chr16:16p12.2
benign
NM_000336.3(SCNN1B):c.776+102C>T single nucleotide variant not provided [RCV001691858] Chr16:23355591 [GRCh38]
Chr16:23366912 [GRCh37]
Chr16:16p12.2
benign
NM_000336.3(SCNN1B):c.617G>A (p.Arg206Gln) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV001120526]|Liddle syndrome 1 [RCV001120527]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001120525]|not provided [RCV003727871] Chr16:23355330 [GRCh38]
Chr16:23366651 [GRCh37]
Chr16:16p12.2
likely benign|uncertain significance
NM_000336.3(SCNN1B):c.1757C>T (p.Thr586Ile) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV001118954]|Liddle syndrome 1 [RCV001118953]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001118955]|not provided [RCV002558176] Chr16:23380635 [GRCh38]
Chr16:23391956 [GRCh37]
Chr16:16p12.2
benign|uncertain significance
NM_000336.3(SCNN1B):c.1694G>A (p.Arg565Gln) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV001115890]|Liddle syndrome 1 [RCV001115891]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001115889] Chr16:23380572 [GRCh38]
Chr16:23391893 [GRCh37]
Chr16:16p12.2
benign|uncertain significance
NM_000336.3(SCNN1B):c.1336G>A (p.Glu446Lys) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV001120722]|Liddle syndrome 1 [RCV001120723]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001115794] Chr16:23377230 [GRCh38]
Chr16:23388551 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1745T>A (p.Val582Glu) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV001118952]|Liddle syndrome 1 [RCV001117346]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001117347] Chr16:23380623 [GRCh38]
Chr16:23391944 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.*446C>A single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV001121024]|Liddle syndrome 1 [RCV001121022]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001121023] Chr16:23381247 [GRCh38]
Chr16:23392568 [GRCh37]
Chr16:16p12.2
uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001) copy number gain Microcephaly [RCV001252948] Chr16:5805001..34230001 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3 copy number gain See cases [RCV001263169] Chr16:2959279..30190593 [GRCh37]
Chr16:16p13.3-11.2
pathogenic|likely pathogenic
NM_000336.3(SCNN1B):c.1789dup (p.Arg597fs) duplication not provided [RCV001288159] Chr16:23380661..23380662 [GRCh38]
Chr16:23391982..23391983 [GRCh37]
Chr16:16p12.2
pathogenic|likely pathogenic
NM_000336.3(SCNN1B):c.1854dup (p.Asn619fs) duplication not provided [RCV001289231] Chr16:23380726..23380727 [GRCh38]
Chr16:23392047..23392048 [GRCh37]
Chr16:16p12.2
pathogenic
NM_000336.3(SCNN1B):c.880+10G>A single nucleotide variant not provided [RCV001289236] Chr16:23367969 [GRCh38]
Chr16:23379290 [GRCh37]
Chr16:16p12.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000336.3(SCNN1B):c.1888G>A (p.Val630Ile) single nucleotide variant Inborn genetic diseases [RCV004035568]|not provided [RCV001289234] Chr16:23380766 [GRCh38]
Chr16:23392087 [GRCh37]
Chr16:16p12.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000336.3(SCNN1B):c.1543-112A>T single nucleotide variant not provided [RCV001643238] Chr16:23380309 [GRCh38]
Chr16:23391630 [GRCh37]
Chr16:16p12.2
benign
NM_000336.3(SCNN1B):c.187G>A (p.Val63Ile) single nucleotide variant not provided [RCV001289232] Chr16:23348786 [GRCh38]
Chr16:23360107 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1313A>G (p.Glu438Gly) single nucleotide variant not provided [RCV001354153] Chr16:23377207 [GRCh38]
Chr16:23388528 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.2:c.-7632_-9+6393del deletion Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001420633]   uncertain significance
NM_000336.3(SCNN1B):c.880+166C>G single nucleotide variant not provided [RCV001716537] Chr16:23368125 [GRCh38]
Chr16:23379446 [GRCh37]
Chr16:16p12.2
benign
NM_000336.3(SCNN1B):c.-8-73T>C single nucleotide variant not provided [RCV001592702] Chr16:23348519 [GRCh38]
Chr16:23359840 [GRCh37]
Chr16:16p12.2
likely benign
NM_000336.3(SCNN1B):c.1270+121C>T single nucleotide variant not provided [RCV001643512] Chr16:23375976 [GRCh38]
Chr16:23387297 [GRCh37]
Chr16:16p12.2
benign
NM_000336.3(SCNN1B):c.1152+43G>A single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV001807496]|Liddle syndrome 1 [RCV001807494]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001807495]|not provided [RCV001671821] Chr16:23371926 [GRCh38]
Chr16:23383247 [GRCh37]
Chr16:16p12.2
benign
NC_000016.10:g.23301864G>A single nucleotide variant not provided [RCV001617328] Chr16:23301864 [GRCh38]
Chr16:23313185 [GRCh37]
Chr16:16p12.2
benign
NM_000336.3(SCNN1B):c.1405-158T>A single nucleotide variant not provided [RCV001672019] Chr16:23378548 [GRCh38]
Chr16:23389869 [GRCh37]
Chr16:16p12.2
benign
NM_000336.3(SCNN1B):c.312-41A>C single nucleotide variant not provided [RCV001709787] Chr16:23352760 [GRCh38]
Chr16:23364081 [GRCh37]
Chr16:16p12.2
benign
NM_000336.3(SCNN1B):c.-9+295T>C single nucleotide variant not provided [RCV001674500] Chr16:23302732 [GRCh38]
Chr16:23314053 [GRCh37]
Chr16:16p12.2
benign
NM_000336.3(SCNN1B):c.219C>A (p.Thr73=) single nucleotide variant not provided [RCV003109010] Chr16:23348818 [GRCh38]
Chr16:23360139 [GRCh37]
Chr16:16p12.2
likely benign
NM_000336.3(SCNN1B):c.648dup (p.Glu217fs) duplication Bronchiectasis with or without elevated sweat chloride 1 [RCV001849569]|Bronchiectasis with or without elevated sweat chloride 1 [RCV002478010] Chr16:23355360..23355361 [GRCh38]
Chr16:23366681..23366682 [GRCh37]
Chr16:16p12.2
pathogenic|likely pathogenic
NM_000336.3(SCNN1B):c.586-89C>T single nucleotide variant not provided [RCV001786640] Chr16:23355210 [GRCh38]
Chr16:23366531 [GRCh37]
Chr16:16p12.2
likely benign
NM_000336.3(SCNN1B):c.312-207G>A single nucleotide variant not provided [RCV001786641] Chr16:23352594 [GRCh38]
Chr16:23363915 [GRCh37]
Chr16:16p12.2
likely benign
NM_000336.3(SCNN1B):c.1228C>T (p.Arg410Cys) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002496079]|not provided [RCV001752120] Chr16:23375813 [GRCh38]
Chr16:23387134 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.114dup (p.Lys39fs) duplication not provided [RCV001784948] Chr16:23348709..23348710 [GRCh38]
Chr16:23360030..23360031 [GRCh37]
Chr16:16p12.2
pathogenic
GRCh37/hg19 16p12.2-11.2(chr16:21594997-29625302)x1 copy number loss not provided [RCV001795549] Chr16:21594997..29625302 [GRCh37]
Chr16:16p12.2-11.2
pathogenic
NM_000336.3(SCNN1B):c.-9+489A>T single nucleotide variant not provided [RCV001786636] Chr16:23302926 [GRCh38]
Chr16:23314247 [GRCh37]
Chr16:16p12.2
likely benign
NM_000336.3(SCNN1B):c.1894G>A (p.Glu632Lys) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002506758]|not provided [RCV001756664] Chr16:23380772 [GRCh38]
Chr16:23392093 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1152+312T>C single nucleotide variant not provided [RCV001797274] Chr16:23372195 [GRCh38]
Chr16:23383516 [GRCh37]
Chr16:16p12.2
likely benign
NM_000336.3(SCNN1B):c.1322T>C (p.Ile441Thr) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002506844]|Inborn genetic diseases [RCV002542472]|not provided [RCV001815789] Chr16:23377216 [GRCh38]
Chr16:23388537 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.539C>A (p.Ser180Ter) single nucleotide variant Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001837048] Chr16:23353028 [GRCh38]
Chr16:23364349 [GRCh37]
Chr16:16p12.2
pathogenic
NM_000336.3(SCNN1B):c.803A>G (p.His268Arg) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV002506862]|Inborn genetic diseases [RCV002545236]|not specified [RCV001844485] Chr16:23367882 [GRCh38]
Chr16:23379203 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.121A>G (p.Ile41Val) single nucleotide variant not provided [RCV001936001] Chr16:23348720 [GRCh38]
Chr16:23360041 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1838C>T (p.Pro613Leu) single nucleotide variant not provided [RCV002247207] Chr16:23380716 [GRCh38]
Chr16:23392037 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.91G>A (p.Asp31Asn) single nucleotide variant not provided [RCV002223733] Chr16:23348690 [GRCh38]
Chr16:23360011 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.-9+564G>T single nucleotide variant not provided [RCV002226048] Chr16:23303001 [GRCh38]
Chr16:23314322 [GRCh37]
Chr16:16p12.2
benign
NC_000016.10:g.23302174G>A single nucleotide variant not provided [RCV002226047] Chr16:23302174 [GRCh38]
Chr16:23313495 [GRCh37]
Chr16:16p12.2
benign
NM_000336.3(SCNN1B):c.1340C>G (p.Ser447Cys) single nucleotide variant not provided [RCV003110038] Chr16:23377234 [GRCh38]
Chr16:23388555 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1752C>T (p.Ala584=) single nucleotide variant not specified [RCV004782067] Chr16:23380630 [GRCh38]
Chr16:23391951 [GRCh37]
Chr16:16p12.2
likely benign
NM_000336.3(SCNN1B):c.1693C>T (p.Arg565Trp) single nucleotide variant not provided [RCV003118086] Chr16:23380571 [GRCh38]
Chr16:23391892 [GRCh37]
Chr16:16p12.2
uncertain significance
NC_000016.9:g.(?_23193865)_(23652612_?)del deletion COG7 congenital disorder of glycosylation [RCV003113761] Chr16:23193865..23652612 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1329G>A (p.Met443Ile) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003229789] Chr16:23377223 [GRCh38]
Chr16:23388544 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1609C>T (p.Leu537Phe) single nucleotide variant Opsoclonus-myoclonus syndrome [RCV002286329] Chr16:23380487 [GRCh38]
Chr16:23391808 [GRCh37]
Chr16:16p12.2
likely pathogenic
NM_000336.3(SCNN1B):c.1542+45A>G single nucleotide variant not provided [RCV002286269] Chr16:23380214 [GRCh38]
Chr16:23391535 [GRCh37]
Chr16:16p12.2
likely benign
NM_000336.3(SCNN1B):c.1850C>T (p.Pro617Leu) single nucleotide variant Liddle syndrome 1 [RCV002281807] Chr16:23380728 [GRCh38]
Chr16:23392049 [GRCh37]
Chr16:16p12.2
pathogenic
NM_000336.3(SCNN1B):c.1513C>T (p.Arg505Cys) single nucleotide variant Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young [RCV002287700] Chr16:23380140 [GRCh38]
Chr16:23391461 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.754G>A (p.Gly252Arg) single nucleotide variant Inborn genetic diseases [RCV003260616] Chr16:23355467 [GRCh38]
Chr16:23366788 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.367C>A (p.Leu123Met) single nucleotide variant Inborn genetic diseases [RCV003304931] Chr16:23352856 [GRCh38]
Chr16:23364177 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.699G>C (p.Gln233His) single nucleotide variant Inborn genetic diseases [RCV003306933]|not provided [RCV003549056] Chr16:23355412 [GRCh38]
Chr16:23366733 [GRCh37]
Chr16:16p12.2
likely benign|uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3 copy number gain not provided [RCV002472599] Chr16:4380767..30445350 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
GRCh37/hg19 16p12.2-11.2(chr16:21576803-30177240)x3 copy number gain not provided [RCV002474541] Chr16:21576803..30177240 [GRCh37]
Chr16:16p12.2-11.2
pathogenic
NM_000336.3(SCNN1B):c.372G>T (p.Glu124Asp) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003150888] Chr16:23352861 [GRCh38]
Chr16:23364182 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.-8-15491_-8-15437del deletion Schizophrenia [RCV002463523] Chr16:23333100..23333154 [GRCh38]
Chr16:23344421..23344475 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.724G>A (p.Gly242Ser) single nucleotide variant Inborn genetic diseases [RCV002728440] Chr16:23355437 [GRCh38]
Chr16:23366758 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.409A>C (p.Thr137Pro) single nucleotide variant Inborn genetic diseases [RCV002858911] Chr16:23352898 [GRCh38]
Chr16:23364219 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1153-14C>A single nucleotide variant not provided [RCV002681261] Chr16:23375724 [GRCh38]
Chr16:23387045 [GRCh37]
Chr16:16p12.2
likely benign
NM_000336.3(SCNN1B):c.7G>A (p.Val3Met) single nucleotide variant Inborn genetic diseases [RCV002969654]|not provided [RCV003546934] Chr16:23348606 [GRCh38]
Chr16:23359927 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.607T>C (p.Cys203Arg) single nucleotide variant not provided [RCV002816603] Chr16:23355320 [GRCh38]
Chr16:23366641 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1850C>G (p.Pro617Arg) single nucleotide variant not provided [RCV003015618] Chr16:23380728 [GRCh38]
Chr16:23392049 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1466+13C>G single nucleotide variant not provided [RCV002776030] Chr16:23378780 [GRCh38]
Chr16:23390101 [GRCh37]
Chr16:16p12.2
benign
NM_000336.3(SCNN1B):c.1854del (p.Asn619fs) deletion not provided [RCV003039424] Chr16:23380727 [GRCh38]
Chr16:23392048 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1873C>G (p.Leu625Val) single nucleotide variant not provided [RCV002639830] Chr16:23380751 [GRCh38]
Chr16:23392072 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.979C>G (p.Pro327Ala) single nucleotide variant Inborn genetic diseases [RCV002798278] Chr16:23371397 [GRCh38]
Chr16:23382718 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.73C>G (p.Leu25Val) single nucleotide variant not provided [RCV002760706] Chr16:23348672 [GRCh38]
Chr16:23359993 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1714G>A (p.Ala572Thr) single nucleotide variant not provided [RCV002636580] Chr16:23380592 [GRCh38]
Chr16:23391913 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1402G>A (p.Glu468Lys) single nucleotide variant not provided [RCV003078490] Chr16:23377384 [GRCh38]
Chr16:23388705 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.518G>T (p.Gly173Val) single nucleotide variant Inborn genetic diseases [RCV002987339] Chr16:23353007 [GRCh38]
Chr16:23364328 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1347-12C>A single nucleotide variant not provided [RCV002575816] Chr16:23377317 [GRCh38]
Chr16:23388638 [GRCh37]
Chr16:16p12.2
likely benign
NM_000336.3(SCNN1B):c.1152+17C>T single nucleotide variant not provided [RCV002790349] Chr16:23371900 [GRCh38]
Chr16:23383221 [GRCh37]
Chr16:16p12.2
likely benign
NM_000336.3(SCNN1B):c.562G>A (p.Gly188Arg) single nucleotide variant Inborn genetic diseases [RCV002915612]|not provided [RCV003565593] Chr16:23353051 [GRCh38]
Chr16:23364372 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1039C>T (p.Leu347Phe) single nucleotide variant not provided [RCV002666874] Chr16:23371457 [GRCh38]
Chr16:23382778 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1673T>G (p.Leu558Trp) single nucleotide variant Inborn genetic diseases [RCV003065874]|not provided [RCV003058119] Chr16:23380551 [GRCh38]
Chr16:23391872 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1058G>T (p.Arg353Leu) single nucleotide variant not provided [RCV002710341] Chr16:23371789 [GRCh38]
Chr16:23383110 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1751C>T (p.Ala584Val) single nucleotide variant not provided [RCV002508654] Chr16:23380629 [GRCh38]
Chr16:23391950 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1703A>C (p.Gln568Pro) single nucleotide variant Inborn genetic diseases [RCV002987190] Chr16:23380581 [GRCh38]
Chr16:23391902 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.964G>A (p.Glu322Lys) single nucleotide variant not provided [RCV003084906] Chr16:23371382 [GRCh38]
Chr16:23382703 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1420G>A (p.Val474Ile) single nucleotide variant Inborn genetic diseases [RCV002698553] Chr16:23378721 [GRCh38]
Chr16:23390042 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1087G>A (p.Val363Met) single nucleotide variant not provided [RCV003085258] Chr16:23371818 [GRCh38]
Chr16:23383139 [GRCh37]
Chr16:16p12.2
likely benign
NM_000336.3(SCNN1B):c.878T>A (p.Phe293Tyr) single nucleotide variant not provided [RCV002626927] Chr16:23367957 [GRCh38]
Chr16:23379278 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.511C>T (p.His171Tyr) single nucleotide variant Inborn genetic diseases [RCV002915507]|not provided [RCV003420464] Chr16:23353000 [GRCh38]
Chr16:23364321 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1848G>A (p.Pro616=) single nucleotide variant not provided [RCV002595385] Chr16:23380726 [GRCh38]
Chr16:23392047 [GRCh37]
Chr16:16p12.2
likely benign
NM_000336.3(SCNN1B):c.1463G>C (p.Ser488Thr) single nucleotide variant not provided [RCV002721103] Chr16:23378764 [GRCh38]
Chr16:23390085 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.731A>G (p.Gln244Arg) single nucleotide variant not provided [RCV002580943] Chr16:23355444 [GRCh38]
Chr16:23366765 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1300G>A (p.Val434Met) single nucleotide variant not provided [RCV002966206]|not specified [RCV003403980] Chr16:23377194 [GRCh38]
Chr16:23388515 [GRCh37]
Chr16:16p12.2
likely benign
NM_000336.3(SCNN1B):c.776G>A (p.Arg259Gln) single nucleotide variant not provided [RCV002900511] Chr16:23355489 [GRCh38]
Chr16:23366810 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1279T>C (p.Tyr427His) single nucleotide variant not provided [RCV002599841] Chr16:23377173 [GRCh38]
Chr16:23388494 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1713del (p.Ser570_Tyr571insTer) deletion not provided [RCV002962600] Chr16:23380591 [GRCh38]
Chr16:23391912 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1152+18G>A single nucleotide variant not provided [RCV002627613] Chr16:23371901 [GRCh38]
Chr16:23383222 [GRCh37]
Chr16:16p12.2
likely benign
NM_000336.3(SCNN1B):c.1852C>G (p.Pro618Ala) single nucleotide variant not provided [RCV002806674] Chr16:23380730 [GRCh38]
Chr16:23392051 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1310G>A (p.Arg437Lys) single nucleotide variant Inborn genetic diseases [RCV002769531]|not provided [RCV003561173] Chr16:23377204 [GRCh38]
Chr16:23388525 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1190G>A (p.Arg397His) single nucleotide variant Inborn genetic diseases [RCV002939296]|not provided [RCV003689031] Chr16:23375775 [GRCh38]
Chr16:23387096 [GRCh37]
Chr16:16p12.2
likely benign|uncertain significance
NM_000336.3(SCNN1B):c.1900G>A (p.Asp634Asn) single nucleotide variant not provided [RCV002654145] Chr16:23380778 [GRCh38]
Chr16:23392099 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.865C>T (p.Pro289Ser) single nucleotide variant Inborn genetic diseases [RCV002652325] Chr16:23367944 [GRCh38]
Chr16:23379265 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1648A>T (p.Ile550Phe) single nucleotide variant Inborn genetic diseases [RCV002724439] Chr16:23380526 [GRCh38]
Chr16:23391847 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1658T>C (p.Ile553Thr) single nucleotide variant not provided [RCV002587648] Chr16:23380536 [GRCh38]
Chr16:23391857 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1727C>T (p.Pro576Leu) single nucleotide variant not provided [RCV002608460] Chr16:23380605 [GRCh38]
Chr16:23391926 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1859A>G (p.Tyr620Cys) single nucleotide variant not specified [RCV003155613] Chr16:23380737 [GRCh38]
Chr16:23392058 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1474A>G (p.Ile492Val) single nucleotide variant Inborn genetic diseases [RCV003207912] Chr16:23380101 [GRCh38]
Chr16:23391422 [GRCh37]
Chr16:16p12.2
likely benign
SCNN1B, IVS12, G-A, +1 single nucleotide variant Pseudohypoaldosteronism, type IB2, autosomal recessive [RCV003226586]   pathogenic
NM_000336.3(SCNN1B):c.1769T>C (p.Phe590Ser) single nucleotide variant Inborn genetic diseases [RCV003205207] Chr16:23380647 [GRCh38]
Chr16:23391968 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1495T>G (p.Phe499Val) single nucleotide variant Inborn genetic diseases [RCV003200391]|not provided [RCV003708743] Chr16:23380122 [GRCh38]
Chr16:23391443 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1108G>A (p.Val370Ile) single nucleotide variant not provided [RCV003136526] Chr16:23371839 [GRCh38]
Chr16:23383160 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.471C>A (p.Asn157Lys) single nucleotide variant Inborn genetic diseases [RCV003205699] Chr16:23352960 [GRCh38]
Chr16:23364281 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1130A>T (p.Tyr377Phe) single nucleotide variant Inborn genetic diseases [RCV003196183] Chr16:23371861 [GRCh38]
Chr16:23383182 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.554A>T (p.Asn185Ile) single nucleotide variant Inborn genetic diseases [RCV003220813] Chr16:23353043 [GRCh38]
Chr16:23364364 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1328T>C (p.Met443Thr) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV003320424]|Inborn genetic diseases [RCV003341562]|not provided [RCV003575076] Chr16:23377222 [GRCh38]
Chr16:23388543 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.84G>A (p.Trp28Ter) single nucleotide variant Pseudohypoaldosteronism, type IB2, autosomal recessive [RCV003324626] Chr16:23348683 [GRCh38]
Chr16:23360004 [GRCh37]
Chr16:16p12.2
pathogenic
NM_000336.3(SCNN1B):c.1335G>C (p.Lys445Asn) single nucleotide variant Inborn genetic diseases [RCV003367755]|not provided [RCV003456584] Chr16:23377229 [GRCh38]
Chr16:23388550 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1346+1G>A single nucleotide variant Pseudohypoaldosteronism, type IB2, autosomal recessive [RCV003447447] Chr16:23377241 [GRCh38]
Chr16:23388562 [GRCh37]
Chr16:16p12.2
pathogenic
NM_000336.3(SCNN1B):c.1819G>A (p.Glu607Lys) single nucleotide variant not provided [RCV003874389] Chr16:23380697 [GRCh38]
Chr16:23392018 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.87C>A (p.Tyr29Ter) single nucleotide variant Pseudohypoaldosteronism, type IB2, autosomal recessive [RCV003447446] Chr16:23348686 [GRCh38]
Chr16:23360007 [GRCh37]
Chr16:16p12.2
pathogenic
NM_000336.3(SCNN1B):c.1271-1G>C single nucleotide variant Pseudohypoaldosteronism, type IB2, autosomal recessive [RCV003447445] Chr16:23377164 [GRCh38]
Chr16:23388485 [GRCh37]
Chr16:16p12.2
pathogenic
NM_000336.3(SCNN1B):c.1163G>A (p.Arg388His) single nucleotide variant not provided [RCV003482886] Chr16:23375748 [GRCh38]
Chr16:23387069 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1849C>G (p.Pro617Ala) single nucleotide variant not provided [RCV004778483] Chr16:23380727 [GRCh38]
Chr16:23392048 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1335G>A (p.Lys445=) single nucleotide variant not provided [RCV003417681] Chr16:23377229 [GRCh38]
Chr16:23388550 [GRCh37]
Chr16:16p12.2
likely benign
NM_000336.3(SCNN1B):c.776+5G>A single nucleotide variant SCNN1B-related disorder [RCV003412042] Chr16:23355494 [GRCh38]
Chr16:23366815 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1174C>T (p.Gln392Ter) single nucleotide variant SCNN1B-related disorder [RCV003397812] Chr16:23375759 [GRCh38]
Chr16:23387080 [GRCh37]
Chr16:16p12.2
likely pathogenic
NM_000336.3(SCNN1B):c.943G>A (p.Gly315Arg) single nucleotide variant not provided [RCV003426634] Chr16:23371361 [GRCh38]
Chr16:23382682 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1270+17G>A single nucleotide variant not provided [RCV003778359]|not specified [RCV003405066] Chr16:23375872 [GRCh38]
Chr16:23387193 [GRCh37]
Chr16:16p12.2
likely benign
NM_000336.3(SCNN1B):c.919G>A (p.Val307Ile) single nucleotide variant not provided [RCV003739754] Chr16:23371337 [GRCh38]
Chr16:23382658 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.738C>T (p.Ile246=) single nucleotide variant not provided [RCV003546437] Chr16:23355451 [GRCh38]
Chr16:23366772 [GRCh37]
Chr16:16p12.2
likely benign
NM_000336.3(SCNN1B):c.1881G>A (p.Pro627=) single nucleotide variant not provided [RCV003831403] Chr16:23380759 [GRCh38]
Chr16:23392080 [GRCh37]
Chr16:16p12.2
likely benign
NM_000336.3(SCNN1B):c.1374C>T (p.Ser458=) single nucleotide variant not provided [RCV003690244] Chr16:23377356 [GRCh38]
Chr16:23388677 [GRCh37]
Chr16:16p12.2
likely benign
NM_000336.3(SCNN1B):c.1466+18C>T single nucleotide variant not provided [RCV003882025] Chr16:23378785 [GRCh38]
Chr16:23390106 [GRCh37]
Chr16:16p12.2
likely benign
NM_000336.3(SCNN1B):c.1270+6C>T single nucleotide variant not provided [RCV003491450] Chr16:23375861 [GRCh38]
Chr16:23387182 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1636G>A (p.Asp546Asn) single nucleotide variant not provided [RCV003824693] Chr16:23380514 [GRCh38]
Chr16:23391835 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.270G>A (p.Met90Ile) single nucleotide variant not provided [RCV003660458] Chr16:23348869 [GRCh38]
Chr16:23360190 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1041C>T (p.Leu347=) single nucleotide variant SCNN1B-related disorder [RCV003966540]|not provided [RCV003572588] Chr16:23371459 [GRCh38]
Chr16:23382780 [GRCh37]
Chr16:16p12.2
likely benign
NM_000336.3(SCNN1B):c.880+18G>A single nucleotide variant not provided [RCV003882596] Chr16:23367977 [GRCh38]
Chr16:23379298 [GRCh37]
Chr16:16p12.2
likely benign
NM_000336.3(SCNN1B):c.1642G>A (p.Val548Met) single nucleotide variant not provided [RCV003549775] Chr16:23380520 [GRCh38]
Chr16:23391841 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.857C>T (p.Ser286Leu) single nucleotide variant not provided [RCV003548091] Chr16:23367936 [GRCh38]
Chr16:23379257 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1870C>T (p.Arg624Cys) single nucleotide variant not provided [RCV003548248] Chr16:23380748 [GRCh38]
Chr16:23392069 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.363T>G (p.Ala121=) single nucleotide variant not provided [RCV003549296] Chr16:23352852 [GRCh38]
Chr16:23364173 [GRCh37]
Chr16:16p12.2
likely benign
NM_000336.3(SCNN1B):c.54C>T (p.Pro18=) single nucleotide variant not provided [RCV003548475] Chr16:23348653 [GRCh38]
Chr16:23359974 [GRCh37]
Chr16:16p12.2
likely benign
NM_000336.3(SCNN1B):c.1228C>G (p.Arg410Gly) single nucleotide variant not provided [RCV003815157] Chr16:23375813 [GRCh38]
Chr16:23387134 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.846G>A (p.Lys282=) single nucleotide variant not provided [RCV003814387] Chr16:23367925 [GRCh38]
Chr16:23379246 [GRCh37]
Chr16:16p12.2
likely benign
NM_000336.3(SCNN1B):c.1542+17C>T single nucleotide variant not provided [RCV003814422] Chr16:23380186 [GRCh38]
Chr16:23391507 [GRCh37]
Chr16:16p12.2
likely benign
NM_000336.3(SCNN1B):c.1253G>A (p.Arg418Gln) single nucleotide variant not provided [RCV003559102] Chr16:23375838 [GRCh38]
Chr16:23387159 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.311+13G>A single nucleotide variant not provided [RCV003838671] Chr16:23348923 [GRCh38]
Chr16:23360244 [GRCh37]
Chr16:16p12.2
likely benign
NM_000336.3(SCNN1B):c.786G>A (p.Thr262=) single nucleotide variant not provided [RCV003736046] Chr16:23367865 [GRCh38]
Chr16:23379186 [GRCh37]
Chr16:16p12.2
likely benign
NM_000336.3(SCNN1B):c.1831C>G (p.Pro611Ala) single nucleotide variant not provided [RCV003844842] Chr16:23380709 [GRCh38]
Chr16:23392030 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1687C>T (p.Arg563Trp) single nucleotide variant not provided [RCV003863988] Chr16:23380565 [GRCh38]
Chr16:23391886 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1479C>G (p.Val493=) single nucleotide variant not provided [RCV003556766] Chr16:23380106 [GRCh38]
Chr16:23391427 [GRCh37]
Chr16:16p12.2
likely benign
NM_000336.3(SCNN1B):c.1701C>T (p.Ala567=) single nucleotide variant not provided [RCV003719085] Chr16:23380579 [GRCh38]
Chr16:23391900 [GRCh37]
Chr16:16p12.2
likely benign
NM_000336.3(SCNN1B):c.537A>C (p.Ala179=) single nucleotide variant not provided [RCV003870277] Chr16:23353026 [GRCh38]
Chr16:23364347 [GRCh37]
Chr16:16p12.2
likely benign
NM_000336.3(SCNN1B):c.1050G>A (p.Lys350=) single nucleotide variant not provided [RCV003870167] Chr16:23371781 [GRCh38]
Chr16:23383102 [GRCh37]
Chr16:16p12.2
likely benign
GRCh37/hg19 16p12.2(chr16:23261791-23326708)x3 copy number gain not specified [RCV003987169] Chr16:23261791..23326708 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1724C>T (p.Pro575Leu) single nucleotide variant not provided [RCV003551272] Chr16:23380602 [GRCh38]
Chr16:23391923 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1014G>A (p.Ser338=) single nucleotide variant not provided [RCV003556850] Chr16:23371432 [GRCh38]
Chr16:23382753 [GRCh37]
Chr16:16p12.2
likely benign
NM_000336.3(SCNN1B):c.1535C>T (p.Ala512Val) single nucleotide variant not provided [RCV003886737] Chr16:23380162 [GRCh38]
Chr16:23391483 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1595G>T (p.Gly532Val) single nucleotide variant Liddle syndrome 1 [RCV003991798] Chr16:23380473 [GRCh38]
Chr16:23391794 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.720C>A (p.Tyr240Ter) single nucleotide variant SCNN1B-related disorder [RCV003982815] Chr16:23355433 [GRCh38]
Chr16:23366754 [GRCh37]
Chr16:16p12.2
likely pathogenic
NM_000336.3(SCNN1B):c.1044+8C>T single nucleotide variant SCNN1B-related disorder [RCV003929555] Chr16:23371470 [GRCh38]
Chr16:23382791 [GRCh37]
Chr16:16p12.2
likely benign
NM_000336.3(SCNN1B):c.1725G>A (p.Pro575=) single nucleotide variant SCNN1B-related disorder [RCV003949838] Chr16:23380603 [GRCh38]
Chr16:23391924 [GRCh37]
Chr16:16p12.2
likely benign
NM_000336.3(SCNN1B):c.1275T>C (p.His425=) single nucleotide variant SCNN1B-related disorder [RCV003951825] Chr16:23377169 [GRCh38]
Chr16:23388490 [GRCh37]
Chr16:16p12.2
likely benign
NM_000336.3(SCNN1B):c.590G>C (p.Ser197Thr) single nucleotide variant Liddle syndrome 1 [RCV003990889] Chr16:23355303 [GRCh38]
Chr16:23366624 [GRCh37]
Chr16:16p12.2
likely benign
NM_000336.3(SCNN1B):c.1825G>T (p.Ala609Ser) single nucleotide variant SCNN1B-related disorder [RCV003896722] Chr16:23380703 [GRCh38]
Chr16:23392024 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.153G>A (p.Met51Ile) single nucleotide variant not provided [RCV003885916] Chr16:23348752 [GRCh38]
Chr16:23360073 [GRCh37]
Chr16:16p12.2
likely benign
NM_000336.3(SCNN1B):c.804C>G (p.His268Gln) single nucleotide variant not specified [RCV004527096] Chr16:23367883 [GRCh38]
Chr16:23379204 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.836T>C (p.Met279Thr) single nucleotide variant Inborn genetic diseases [RCV004454971] Chr16:23367915 [GRCh38]
Chr16:23379236 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.922C>G (p.Pro308Ala) single nucleotide variant Inborn genetic diseases [RCV004454972] Chr16:23371340 [GRCh38]
Chr16:23382661 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1136C>T (p.Thr379Met) single nucleotide variant Inborn genetic diseases [RCV004454968] Chr16:23371867 [GRCh38]
Chr16:23383188 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1723C>T (p.Pro575Ser) single nucleotide variant Inborn genetic diseases [RCV004454969] Chr16:23380601 [GRCh38]
Chr16:23391922 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.299C>A (p.Ala100Asp) single nucleotide variant Inborn genetic diseases [RCV004454970] Chr16:23348898 [GRCh38]
Chr16:23360219 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.486G>T (p.Met162Ile) single nucleotide variant Inborn genetic diseases [RCV004658818] Chr16:23352975 [GRCh38]
Chr16:23364296 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.1036G>A (p.Val346Ile) single nucleotide variant Inborn genetic diseases [RCV004658820] Chr16:23371454 [GRCh38]
Chr16:23382775 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.880+16T>C single nucleotide variant not specified [RCV004702767] Chr16:23367975 [GRCh38]
Chr16:23379296 [GRCh37]
Chr16:16p12.2
likely benign
NM_000336.3(SCNN1B):c.1404+1G>T single nucleotide variant Pseudohypoaldosteronism, type IB2, autosomal recessive [RCV004698734] Chr16:23377387 [GRCh38]
Chr16:23388708 [GRCh37]
Chr16:16p12.2
pathogenic
NM_000336.3(SCNN1B):c.624C>A (p.Phe208Leu) single nucleotide variant Inborn genetic diseases [RCV004658821] Chr16:23355337 [GRCh38]
Chr16:23366658 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.606G>T (p.Gln202His) single nucleotide variant Inborn genetic diseases [RCV004658819] Chr16:23355319 [GRCh38]
Chr16:23366640 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.439C>A (p.His147Asn) single nucleotide variant Inborn genetic diseases [RCV004658822] Chr16:23352928 [GRCh38]
Chr16:23364249 [GRCh37]
Chr16:16p12.2
uncertain significance
NM_000336.3(SCNN1B):c.567del (p.Gly188_Cys189insTer) deletion SCNN1B-related disorder [RCV004732387] Chr16:23353056 [GRCh38]
Chr16:23364377 [GRCh37]
Chr16:16p12.2
likely pathogenic
NM_000336.3(SCNN1B):c.1032C>T (p.Ile344=) single nucleotide variant not provided [RCV004794176] Chr16:23371450 [GRCh38]
Chr16:23382771 [GRCh37]
Chr16:16p12.2
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2489
Count of miRNA genes:863
Interacting mature miRNAs:1005
Transcripts:ENST00000307331, ENST00000343070, ENST00000564275, ENST00000566441, ENST00000566647, ENST00000566870, ENST00000568085, ENST00000568923, ENST00000569789
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597041319GWAS1137393_Hnephrolithiasis QTL GWAS1137393 (human)2e-08nephrolithiasis162337059323370594Human
597502815GWAS1598889_Hthyroid stimulating hormone measurement QTL GWAS1598889 (human)4e-15thyroid stimulating hormone measurementblood thyroid stimulating hormone level (CMO:0001247)162327993023279931Human
596957430GWAS1076949_Hthyroid stimulating hormone measurement QTL GWAS1076949 (human)2e-09thyroid stimulating hormone measurementblood thyroid stimulating hormone level (CMO:0001247)162332504423325045Human
597257819GWAS1353893_Hthyroid stimulating hormone measurement QTL GWAS1353893 (human)2e-09thyroid stimulating hormone measurementblood thyroid stimulating hormone level (CMO:0001247)162332504423325045Human
597614314GWAS1671174_Hpotassium measurement QTL GWAS1671174 (human)1e-16potassium measurementblood potassium level (CMO:0000496)162336277523362776Human
597593722GWAS1650582_Hpotassium measurement QTL GWAS1650582 (human)4e-25potassium measurementblood potassium level (CMO:0000496)162336277523362776Human
597075438GWAS1171512_HCleft palate QTL GWAS1171512 (human)0.000003Cleft palate162335510123355102Human
597614390GWAS1671250_Hpotassium measurement QTL GWAS1671250 (human)9e-12potassium measurementblood potassium level (CMO:0000496)162337094023370941Human
597593861GWAS1650721_Hpotassium measurement QTL GWAS1650721 (human)1e-21potassium measurementblood potassium level (CMO:0000496)162336277523362776Human
597041642GWAS1137716_Hnephrolithiasis QTL GWAS1137716 (human)0.000008nephrolithiasis162337059323370594Human
597589059GWAS1645919_Hdiabetic ketoacidosis QTL GWAS1645919 (human)1e-12diabetic ketoacidosis162331032923310330Human
597613840GWAS1670700_Hpotassium measurement QTL GWAS1670700 (human)3e-22potassium measurementblood potassium level (CMO:0000496)162336277523362776Human

Markers in Region
D16S3130  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371623,312,184 - 23,312,424UniSTSGRCh37
Build 361623,219,685 - 23,219,925RGDNCBI36
Celera1622,089,969 - 22,090,209RGD
Cytogenetic Map16p12.2-p12.1UniSTS
HuRef1621,401,583 - 21,401,823UniSTS
Marshfield Genetic Map1643.89RGD
Marshfield Genetic Map1643.89UniSTS
Genethon Genetic Map1642.7UniSTS
D16S2760  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371623,360,894 - 23,361,065UniSTSGRCh37
Build 361623,268,395 - 23,268,566RGDNCBI36
Celera1622,138,173 - 22,138,344RGD
Cytogenetic Map16p12.2-p12.1UniSTS
HuRef1621,449,227 - 21,449,398UniSTS
STS-X87159  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371623,392,111 - 23,392,307UniSTSGRCh37
Build 361623,299,612 - 23,299,808RGDNCBI36
Celera1622,169,372 - 22,169,568RGD
Cytogenetic Map16p12.2-p12.1UniSTS
HuRef1621,480,235 - 21,480,431UniSTS
GeneMap99-GB4 RH Map16197.07UniSTS
RH79175  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371623,392,373 - 23,392,503UniSTSGRCh37
Build 361623,299,874 - 23,300,004RGDNCBI36
Celera1622,169,634 - 22,169,764RGD
Cytogenetic Map16p12.2-p12.1UniSTS
HuRef1621,480,497 - 21,480,627UniSTS
GeneMap99-GB4 RH Map16193.96UniSTS
NCBI RH Map16230.2UniSTS
SCNN1B_3463  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371623,391,826 - 23,392,625UniSTSGRCh37
Build 361623,299,327 - 23,300,126RGDNCBI36
Celera1622,169,087 - 22,169,886RGD
HuRef1621,479,950 - 21,480,749UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2364 2777 2194 4393 1635 2177 3 546 1659 386 2173 6777 6127 25 3242 1 785 1665 1524 170 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001410900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054313591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054313592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054313593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC008915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC130452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF260226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ005383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ005384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ005385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ005386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ005387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ005388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ005389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ005390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ005391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ005392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ005393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU105979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ402523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ515831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L36593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH503766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U16023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X87159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000307331   ⟹   ENSP00000302874
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1623,303,973 - 23,380,801 (+)Ensembl
Ensembl Acc Id: ENST00000343070   ⟹   ENSP00000345751
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1623,302,302 - 23,381,294 (+)Ensembl
Ensembl Acc Id: ENST00000564275   ⟹   ENSP00000457754
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1623,348,592 - 23,380,803 (+)Ensembl
Ensembl Acc Id: ENST00000566441   ⟹   ENSP00000482681
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1623,355,417 - 23,372,183 (+)Ensembl
Ensembl Acc Id: ENST00000566647
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1623,358,202 - 23,359,379 (+)Ensembl
Ensembl Acc Id: ENST00000566870
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1623,348,795 - 23,353,244 (+)Ensembl
Ensembl Acc Id: ENST00000568085   ⟹   ENSP00000455673
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1623,348,592 - 23,380,803 (+)Ensembl
Ensembl Acc Id: ENST00000568923   ⟹   ENSP00000456309
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1623,348,592 - 23,380,803 (+)Ensembl
Ensembl Acc Id: ENST00000569789
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1623,278,231 - 23,352,913 (+)Ensembl
RefSeq Acc Id: NM_000336   ⟹   NP_000327
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381623,302,302 - 23,381,294 (+)NCBI
GRCh371623,313,591 - 23,392,620 (+)ENTREZGENE
Build 361623,221,092 - 23,300,121 (+)NCBI Archive
HuRef1621,402,990 - 21,480,744 (+)ENTREZGENE
CHM1_11624,325,334 - 24,404,340 (+)NCBI
T2T-CHM13v2.01623,578,195 - 23,657,344 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001410900   ⟹   NP_001397829
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381623,302,302 - 23,381,294 (+)NCBI
T2T-CHM13v2.01623,578,195 - 23,657,344 (+)NCBI
RefSeq Acc Id: XM_011545913   ⟹   XP_011544215
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381623,302,302 - 23,381,294 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545914   ⟹   XP_011544216
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381623,336,144 - 23,381,294 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017023525   ⟹   XP_016879014
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381623,278,231 - 23,381,294 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054313591   ⟹   XP_054169566
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01623,554,125 - 23,657,344 (+)NCBI
RefSeq Acc Id: XM_054313592   ⟹   XP_054169567
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01623,578,195 - 23,657,344 (+)NCBI
RefSeq Acc Id: XM_054313593   ⟹   XP_054169568
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01623,612,041 - 23,657,344 (+)NCBI
RefSeq Acc Id: NP_000327   ⟸   NM_000336
- Peptide Label: isoform 1
- UniProtKB: Q9UJ32 (UniProtKB/Swiss-Prot),   Q96KG2 (UniProtKB/Swiss-Prot),   O60891 (UniProtKB/Swiss-Prot),   C5HTZ2 (UniProtKB/Swiss-Prot),   Q9UMU5 (UniProtKB/Swiss-Prot),   P51168 (UniProtKB/Swiss-Prot),   B2R812 (UniProtKB/TrEMBL),   A5X2V0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011544215   ⟸   XM_011545913
- Peptide Label: isoform X2
- UniProtKB: A5X2V0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011544216   ⟸   XM_011545914
- Peptide Label: isoform X3
- UniProtKB: A5X2V0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016879014   ⟸   XM_017023525
- Peptide Label: isoform X1
- UniProtKB: A5X2V0 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000302874   ⟸   ENST00000307331
Ensembl Acc Id: ENSP00000457754   ⟸   ENST00000564275
Ensembl Acc Id: ENSP00000482681   ⟸   ENST00000566441
Ensembl Acc Id: ENSP00000455673   ⟸   ENST00000568085
Ensembl Acc Id: ENSP00000345751   ⟸   ENST00000343070
Ensembl Acc Id: ENSP00000456309   ⟸   ENST00000568923
RefSeq Acc Id: NP_001397829   ⟸   NM_001410900
- Peptide Label: isoform 2
- UniProtKB: A5X2V0 (UniProtKB/TrEMBL),   H3BQ95 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054169566   ⟸   XM_054313591
- Peptide Label: isoform X1
- UniProtKB: A5X2V0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054169567   ⟸   XM_054313592
- Peptide Label: isoform X2
- UniProtKB: A5X2V0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054169568   ⟸   XM_054313593
- Peptide Label: isoform X3
- UniProtKB: A5X2V0 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P51168-F1-model_v2 AlphaFold P51168 1-640 view protein structure

Promoters
RGD ID:7231597
Promoter ID:EPDNEW_H21544
Type:multiple initiation site
Name:SCNN1B_1
Description:sodium channel epithelial 1 beta subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21545  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381623,302,213 - 23,302,273EPDNEW
RGD ID:7231599
Promoter ID:EPDNEW_H21545
Type:single initiation site
Name:SCNN1B_2
Description:sodium channel epithelial 1 beta subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21544  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381623,307,603 - 23,307,663EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10600 AgrOrtholog
COSMIC SCNN1B COSMIC
Ensembl Genes ENSG00000168447 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000307331 ENTREZGENE
  ENST00000307331.9 UniProtKB/Swiss-Prot
  ENST00000343070 ENTREZGENE
  ENST00000343070.7 UniProtKB/Swiss-Prot
  ENST00000564275.5 UniProtKB/TrEMBL
  ENST00000566441.2 UniProtKB/TrEMBL
  ENST00000568085 ENTREZGENE
  ENST00000568085.5 UniProtKB/TrEMBL
  ENST00000568923.5 UniProtKB/TrEMBL
Gene3D-CATH Acid-sensing ion channel domain UniProtKB/TrEMBL
  Acid-sensing ion channels like domains UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  YojJ-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000168447 GTEx
HGNC ID HGNC:10600 ENTREZGENE
Human Proteome Map SCNN1B Human Proteome Map
InterPro ENaC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENaC_chordates UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENaC_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6338 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 6338 ENTREZGENE
OMIM 600760 OMIM
PANTHER AMILORIDE-SENSITIVE SODIUM CHANNEL SUBUNIT BETA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11690 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ASC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA306 PharmGKB, RGD
PRINTS AMINACHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ASC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WZI2_HUMAN UniProtKB/TrEMBL
  A0A345W497_HUMAN UniProtKB/TrEMBL
  A5X2V0 ENTREZGENE, UniProtKB/TrEMBL
  B2R812 ENTREZGENE, UniProtKB/TrEMBL
  C5HTZ2 ENTREZGENE
  H3BQ95 ENTREZGENE, UniProtKB/TrEMBL
  H3BRM4_HUMAN UniProtKB/TrEMBL
  H3BUQ8_HUMAN UniProtKB/TrEMBL
  O60891 ENTREZGENE
  P51168 ENTREZGENE
  Q8WY56_HUMAN UniProtKB/TrEMBL
  Q8WY57_HUMAN UniProtKB/TrEMBL
  Q96KG2 ENTREZGENE
  Q9UJ32 ENTREZGENE
  Q9UMU5 ENTREZGENE
  SCNNB_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary C5HTZ2 UniProtKB/Swiss-Prot
  O60891 UniProtKB/Swiss-Prot
  Q96KG2 UniProtKB/Swiss-Prot
  Q9UJ32 UniProtKB/Swiss-Prot
  Q9UMU5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-12-03 SCNN1B  sodium channel epithelial 1 subunit beta  SCNN1B  sodium channel epithelial 1 beta subunit  Symbol and/or name change 5135510 APPROVED
2016-02-10 SCNN1B  sodium channel epithelial 1 beta subunit  SCNN1B  sodium channel, non voltage gated 1 beta subunit  Symbol and/or name change 5135510 APPROVED
2015-01-20 SCNN1B  sodium channel, non voltage gated 1 beta subunit  SCNN1B  sodium channel, non-voltage-gated 1, beta subunit  Symbol and/or name change 5135510 APPROVED
2012-03-01 SCNN1B  sodium channel, non-voltage-gated 1, beta subunit  SCNN1B  sodium channel, nonvoltage-gated 1, beta  Symbol and/or name change 5135510 APPROVED