SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) - Rat Genome Database

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Gene: SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) Homo sapiens
Analyze
Symbol: SLC4A1
Name: solute carrier family 4 member 1 (Diego blood group)
RGD ID: 737027
HGNC Page HGNC:11027
Description: Enables ankyrin binding activity; chloride:bicarbonate antiporter activity; and protein homodimerization activity. Involved in bicarbonate transport and chloride transmembrane transport. Located in basolateral plasma membrane and cortical cytoskeleton. Part of ankyrin-1 complex. Implicated in congenital hemolytic anemia; hereditary spherocytosis; and renal tubular acidosis. Biomarker of glucosephosphate dehydrogenase deficiency and hereditary elliptocytosis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AE 1; AE1; anion exchange protein 1; anion exchanger 1; anion exchanger-1; band 3 anion exchanger; band 3 anion transport protein; BND3; CD233; CHC; DI; Diego blood group; EMPB3; EPB3; erythrocyte membrane protein band 3; erythroid anion exchange protein; FR; Froese blood group; MGC116750; MGC116753; MGC126619; MGC126623; RTA1A; SAO; solute carrier family 4 (anion exchanger), member 1 (Diego blood group); solute carrier family 4 member 1; solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group); solute carrier family 4, anion exchanger, number 1; solute carrier family 4, member 1; SPH4; SW; Swann blood group; Waldner blood group; WD; WD1; WR; Wright blood group
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
GRCh381744,248,390 - 44,268,135 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1744,248,390 - 44,268,141 (-)EnsemblGRCh38hg38GRCh38
GRCh371742,325,758 - 42,345,503 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361739,682,566 - 39,700,993 (-)NCBINCBI36Build 36hg18NCBI36
Build 341739,682,565 - 39,700,993NCBI
Celera1739,034,465 - 39,054,210 (-)NCBICelera
Cytogenetic Map17q21.31NCBI
HuRef1738,089,106 - 38,108,850 (-)NCBIHuRef
CHM1_11742,561,259 - 42,581,020 (-)NCBICHM1_1
T2T-CHM13v2.01745,101,499 - 45,121,240 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-butoxyethanol  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
4,4'-diisothiocyano-trans-stilbene-2,2'-disulfonic acid  (EXP)
4,4'-dinitrostilbene-2,2'-disulfonic acid  (EXP)
4,4'-sulfonyldiphenol  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aconitine  (ISO)
aldehydo-D-glucose  (EXP)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
atorvastatin calcium  (ISO)
Azoxymethane  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
benzo[e]pyrene  (EXP)
Benzo[ghi]perylene  (ISO)
Benzo[k]fluoranthene  (ISO)
beta-naphthoflavone  (ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (ISO)
bisphenol F  (ISO)
C60 fullerene  (ISO)
cadmium dichloride  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
cholesterol  (ISO)
cisplatin  (ISO)
clofibrate  (ISO)
copper(II) sulfate  (EXP)
D-glucose  (EXP)
D-penicillamine  (ISO)
dexamethasone  (ISO)
dextran sulfate  (ISO)
diallyl trisulfide  (ISO)
dibenz[a,h]anthracene  (ISO)
dibutyl phthalate  (ISO)
dichloroacetic acid  (ISO)
diclofenac  (ISO)
dioxygen  (ISO)
dipyridamole  (EXP)
doxorubicin  (ISO)
folic acid  (ISO)
furan  (ISO)
furans  (EXP)
gentamycin  (ISO)
glucose  (EXP)
hydrogen peroxide  (ISO)
lead diacetate  (ISO)
Mesaconitine  (ISO)
metformin  (ISO)
methapyrilene  (EXP)
methotrexate  (ISO)
methoxychlor  (ISO)
methyl isocyanate  (ISO)
monosodium L-glutamate  (ISO)
N-acetyl-L-cysteine  (ISO)
N-ethyl-N-nitrosourea  (ISO)
Niflumic acid  (EXP)
nitrofen  (ISO)
ochratoxin A  (ISO)
oxaliplatin  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenformin  (ISO)
phenobarbital  (ISO)
pirinixic acid  (EXP)
potassium atom  (EXP)
potassium dichromate  (ISO)
resveratrol  (EXP)
rotenone  (ISO)
selenous acid  (EXP)
silicon dioxide  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
sodium atom  (EXP)
sodium hydrogencarbonate  (ISO)
sulfates  (EXP,ISO)
tebuconazole  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
triphenyl phosphate  (ISO)
Triptolide  (ISO)
triptonide  (ISO)
tungsten  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP)
vancomycin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal distention  (IAGP)
Abdominal pain  (IAGP)
Abnormal blood monovalent inorganic cation concentration  (IAGP)
Abnormal blood potassium concentration  (IAGP)
Abnormal erythrocyte morphology  (IAGP)
Abnormality of urine homeostasis  (IAGP)
Acanthocytosis  (IAGP)
Acidosis  (IAGP)
Anemia  (IAGP)
Anemia of inadequate production  (IAGP)
Anorexia  (IAGP)
Ataxia  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Chills  (IAGP)
Cholelithiasis  (IAGP)
Congenital hemolytic anemia  (IAGP)
Decreased mean corpuscular volume  (IAGP)
Distal renal tubular acidosis  (IAGP)
Edema  (IAGP)
Elevated circulating creatinine concentration  (IAGP)
Elliptocytosis  (IAGP)
Episodic fatigue  (IAGP)
Extramedullary hematopoiesis  (IAGP)
Failure to thrive  (IAGP)
Fever  (IAGP)
Gout  (IAGP)
Growth delay  (IAGP)
Hemolytic anemia  (IAGP)
Hepatomegaly  (IAGP)
Hepatosplenomegaly  (IAGP)
Hyperbilirubinemia  (IAGP)
Hyperchloremia  (IAGP)
Hyperchloremic acidosis  (IAGP)
Hyperchloremic metabolic acidosis  (IAGP)
Hypercoagulability  (IAGP)
Hypocalcemia  (IAGP)
Hypochromia  (IAGP)
Hypofibrinogenemia  (IAGP)
Hypokalemia  (IAGP)
Impaired urinary acidification  (IAGP)
Increased circulating ferritin concentration  (IAGP)
Increased circulating hemoglobin concentration  (IAGP)
Increased circulating lactate concentration  (IAGP)
Increased circulating lactate dehydrogenase concentration  (IAGP)
Increased mean corpuscular hemoglobin concentration  (IAGP)
Increased mean corpuscular volume  (IAGP)
Increased RBC distribution width  (IAGP)
Increased red cell osmotic fragility  (IAGP)
Increased total bilirubin  (IAGP)
Intermittent jaundice  (IAGP)
Isothenuria  (IAGP)
Jaundice  (IAGP)
Juvenile onset  (IAGP)
Lethargy  (IAGP)
Macrocytic anemia  (IAGP)
Maculopapular exanthema  (IAGP)
Medullary nephrocalcinosis  (IAGP)
Metabolic acidosis  (IAGP)
Muscle weakness  (IAGP)
Myalgia  (IAGP)
Neonatal hyperbilirubinemia  (IAGP)
Nephrocalcinosis  (IAGP)
Nephrolithiasis  (IAGP)
Nonspherocytic hemolytic anemia  (IAGP)
Osteomalacia  (IAGP)
Pallor  (IAGP)
Pathologic fracture  (IAGP)
Polycythemia  (IAGP)
Portal vein thrombosis  (IAGP)
Pseudohyperkalemia  (IAGP)
Pulmonary venous hypertension  (IAGP)
Reduced hemoglobin A  (IAGP)
Renal tubular acidosis  (IAGP)
Restrictive cardiomyopathy  (IAGP)
Reticulocytosis  (IAGP)
Rickets  (IAGP)
Schistocytosis  (IAGP)
Short stature  (IAGP)
Skin ulcer  (IAGP)
Spherocytosis  (IAGP)
Splenomegaly  (IAGP)
Spontaneous hemolytic crises  (IAGP)
Stomatocytosis  (IAGP)
Thromboembolism  (IAGP)
Young adult onset  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Modulation of clinical expression and band 3 deficiency in hereditary spherocytosis. Alloisio N, etal., Blood. 1997 Jul 1;90(1):414-20.
2. Cardiac hypertrophy in anion exchanger 1-null mutant mice with severe hemolytic anemia. Alvarez BV, etal., Am J Physiol Heart Circ Physiol. 2007 Mar;292(3):H1301-12. Epub 2006 Oct 20.
3. Pathogenic autoantibodies in the NZB mouse are specific for erythrocyte band 3 protein. Barker RN, etal., Eur J Immunol. 1993 Jul;23(7):1723-6.
4. Regulation of the basolateral chloride/base exchangers AE1 and SLC26A7 in the kidney collecting duct in potassium depletion. Barone S, etal., Nephrol Dial Transplant. 2007 Dec;22(12):3462-70. Epub 2007 Sep 5.
5. Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1. Bruce LJ, etal., Nat Genet. 2005 Nov;37(11):1258-63. Epub 2005 Oct 9.
6. dRTA and hemolytic anemia: first detailed description of SLC4A1 A858D mutation in homozygous state. Fawaz NA, etal., Eur J Haematol. 2012 Apr;88(4):350-5. doi: 10.1111/j.1600-0609.2011.01739.x. Epub 2012 Jan 4.
7. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
8. Mature erythrocyte membrane homeostasis is compromised by loss of the GATA1-FOG1 interaction. Hasegawa A, etal., Blood. 2012 Mar 15;119(11):2615-23. doi: 10.1182/blood-2011-09-382473. Epub 2012 Jan 25.
9. Expression of rat kidney anion exchanger 1 in type A intercalated cells in metabolic acidosis and alkalosis. Huber S, etal., Am J Physiol. 1999 Dec;277(6 Pt 2):F841-9.
10. Duplication of 10 nucleotides in the erythroid band 3 (AE1) gene in a kindred with hereditary spherocytosis and band 3 protein deficiency (band 3PRAGUE). Jarolim P, etal., J Clin Invest. 1994 Jan;93(1):121-30.
11. Deletion in erythrocyte band 3 gene in malaria-resistant Southeast Asian ovalocytosis. Jarolim P, etal., Proc Natl Acad Sci U S A. 1991 Dec 15;88(24):11022-6.
12. Oxidation as a possible mechanism of cellular aging: vitamin E deficiency causes premature aging and IgG binding to erythrocytes. Kay MM, etal., Proc Natl Acad Sci U S A. 1986 Apr;83(8):2463-7.
13. Tropical distal renal tubular acidosis: clinical and epidemiological studies in 78 patients. Khositseth S, etal., QJM. 2012 Sep;105(9):861-77. doi: 10.1093/qjmed/hcs139.
14. Abnormalities of ion-exchange proteins of the red cell membrane in iron deficiency anemia. Li JY, etal., Chin Med J (Engl). 1992 Feb;105(2):116-9.
15. Band 3 Campinas: a novel splicing mutation in the band 3 gene (AE1) associated with hereditary spherocytosis, hyperactivity of Na+/Li+ countertransport and an abnormal renal bicarbonate handling. Lima PR, etal., Blood. 1997 Oct 1;90(7):2810-8.
16. Band 3 Chur: a variant associated with band 3-deficient hereditary spherocytosis and substitution in a highly conserved position of transmembrane segment 11. Maillet P, etal., Br J Haematol. 1995 Dec;91(4):804-10.
17. The calcineurin inhibitor FK506 (tacrolimus) is associated with transient metabolic acidosis and altered expression of renal acid-base transport proteins. Mohebbi N, etal., Am J Physiol Renal Physiol. 2009 Aug;297(2):F499-509. doi: 10.1152/ajprenal.90489.2008. Epub 2009 May 13.
18. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
19. Irreversible AE1 tyrosine phosphorylation leads to membrane vesiculation in G6PD deficient red cells. Pantaleo A, etal., PLoS One. 2011 Jan 5;6(1):e15847. doi: 10.1371/journal.pone.0015847.
20. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
21. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
22. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
23. Monoclonal antibodies recognizing epitopes on the extracellular face and intracellular N-terminus of the human erythrocyte anion transporter (band 3) and their application to the analysis of South East Asian ovalocytes. Smythe JS, etal., Blood. 1995 May 15;85(10):2929-36.
24. Targeted disruption of the murine erythroid band 3 gene results in spherocytosis and severe haemolytic anaemia despite a normal membrane skeleton. Southgate CD, etal., Nat Genet. 1996 Oct;14(2):227-30.
25. Distal renal tubular acidosis in mice lacking the AE1 (band3) Cl-/HCO3- exchanger (slc4a1). Stehberger PA, etal., J Am Soc Nephrol. 2007 May;18(5):1408-18. Epub 2007 Apr 4.
26. Natural antiband 3 antibodies in patients with sickle cell disease. Villaescusa R, etal., C R Biol. 2013 Mar;336(3):173-6. doi: 10.1016/j.crvi.2012.09.002. Epub 2012 Oct 12.
27. Promoter polymorphism of the anion-exchange protein 1 associated with severe malarial anemia and fatality. von Kalckreuth V, etal., J Infect Dis. 2006 Oct 1;194(7):949-57. Epub 2006 Aug 30.
Additional References at PubMed
PMID:379653   PMID:695442   PMID:701248   PMID:1352774   PMID:1378323   PMID:1471983   PMID:1520883   PMID:1527044   PMID:1538405   PMID:1639060   PMID:1678289   PMID:1737855  
PMID:1824272   PMID:1885574   PMID:1998697   PMID:2065070   PMID:2204832   PMID:2575590   PMID:2594752   PMID:2790053   PMID:2968981   PMID:3179308   PMID:3223947   PMID:3372523  
PMID:3478298   PMID:4027230   PMID:6345535   PMID:6449514   PMID:6615451   PMID:7479704   PMID:7506871   PMID:7530501   PMID:7626035   PMID:7774942   PMID:7812009   PMID:7902326  
PMID:7919393   PMID:7949112   PMID:8045253   PMID:8168533   PMID:8206915   PMID:8227202   PMID:8343110   PMID:8434259   PMID:8471774   PMID:8508760   PMID:8527430   PMID:8567957  
PMID:8578746   PMID:8640229   PMID:8693505   PMID:8704215   PMID:8808627   PMID:8943874   PMID:8960772   PMID:9012689   PMID:9191821   PMID:9233560   PMID:9312167   PMID:9422766  
PMID:9454576   PMID:9600966   PMID:9709005   PMID:9709782   PMID:9734643   PMID:9765907   PMID:9774471   PMID:9845551   PMID:9854053   PMID:9973643   PMID:10364201   PMID:10605028  
PMID:10820026   PMID:10926824   PMID:10942405   PMID:10942416   PMID:10950304   PMID:11049968   PMID:11063570   PMID:11155072   PMID:11208088   PMID:11208611   PMID:11380459   PMID:11606574  
PMID:11756190   PMID:11831035   PMID:11842009   PMID:11844997   PMID:11876646   PMID:11934690   PMID:11994299   PMID:12070037   PMID:12087557   PMID:12101015   PMID:12149479   PMID:12175337  
PMID:12227829   PMID:12446737   PMID:12466935   PMID:12477932   PMID:12482865   PMID:12482869   PMID:12531814   PMID:12539048   PMID:12578372   PMID:12813056   PMID:12898519   PMID:12933803  
PMID:12938018   PMID:14570914   PMID:14604989   PMID:14640982   PMID:14654610   PMID:14695625   PMID:14734552   PMID:14736961   PMID:14769040   PMID:15039022   PMID:15067510   PMID:15087282  
PMID:15121092   PMID:15182940   PMID:15211439   PMID:15252044   PMID:15310273   PMID:15478802   PMID:15489334   PMID:15500919   PMID:15653731   PMID:15811326   PMID:15813913   PMID:15847654  
PMID:15907563   PMID:16013436   PMID:16107207   PMID:16118313   PMID:16229454   PMID:16252102   PMID:16392641   PMID:16411779   PMID:16420521   PMID:16669616   PMID:16700540   PMID:16718373  
PMID:16762928   PMID:16849697   PMID:16914912   PMID:17027918   PMID:17128827   PMID:17137217   PMID:17205967   PMID:17317744   PMID:17361021   PMID:17408468   PMID:17453414   PMID:17533027  
PMID:17553790   PMID:17554061   PMID:17652430   PMID:17854772   PMID:17941824   PMID:17971901   PMID:18160114   PMID:18266205   PMID:18358003   PMID:18524859   PMID:18714043   PMID:18778682  
PMID:18945214   PMID:18979639   PMID:19029645   PMID:19056867   PMID:19071041   PMID:19229254   PMID:19238475   PMID:19289107   PMID:19294450   PMID:19330352   PMID:19438409   PMID:19460752  
PMID:19564639   PMID:19625994   PMID:19722686   PMID:19846781   PMID:19907019   PMID:19913121   PMID:20005958   PMID:20007969   PMID:20015879   PMID:20035734   PMID:20062076   PMID:20068363  
PMID:20100494   PMID:20132789   PMID:20151848   PMID:20346715   PMID:20424473   PMID:20561513   PMID:20576809   PMID:20628050   PMID:20628086   PMID:20691413   PMID:20799361   PMID:20825599  
PMID:20828148   PMID:20833140   PMID:20932077   PMID:20960171   PMID:20980406   PMID:21039340   PMID:21209359   PMID:21257764   PMID:21300752   PMID:21455273   PMID:21493712   PMID:21527529  
PMID:21543742   PMID:21649639   PMID:21695904   PMID:21761435   PMID:21871436   PMID:21873635   PMID:22016805   PMID:22155194   PMID:22170767   PMID:22214711   PMID:22426110   PMID:22516433  
PMID:22518001   PMID:22580993   PMID:22609520   PMID:22861190   PMID:23013433   PMID:23219802   PMID:23251661   PMID:23255290   PMID:23460825   PMID:23583773   PMID:23842529   PMID:23846695  
PMID:23878048   PMID:24121512   PMID:24252324   PMID:24758720   PMID:24920676   PMID:24964668   PMID:25012180   PMID:25257781   PMID:25344524   PMID:25388786   PMID:25616663   PMID:25628009  
PMID:25957428   PMID:26047685   PMID:26049106   PMID:26542571   PMID:26823170   PMID:26859120   PMID:26984737   PMID:27034738   PMID:27058983   PMID:27545606   PMID:27580023   PMID:27601653  
PMID:27718309   PMID:27742708   PMID:27767102   PMID:27984639   PMID:27989623   PMID:28042499   PMID:28045035   PMID:28068080   PMID:28160546   PMID:28216155   PMID:28233610   PMID:28387307  
PMID:28407820   PMID:28494002   PMID:28596233   PMID:29240292   PMID:29483102   PMID:29573245   PMID:29627839   PMID:29884876   PMID:30011272   PMID:30256676   PMID:30545833   PMID:30816203  
PMID:31536960   PMID:31540709   PMID:31556319   PMID:31600044   PMID:31753913   PMID:31933135   PMID:32119860   PMID:32133777   PMID:32296183   PMID:32789883   PMID:32936915   PMID:33068675  
PMID:33620149   PMID:34112901   PMID:34157794   PMID:34943876   PMID:35835865   PMID:36320073   PMID:37775346   PMID:38669699  


Genomics

Comparative Map Data
SLC4A1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381744,248,390 - 44,268,135 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1744,248,390 - 44,268,141 (-)EnsemblGRCh38hg38GRCh38
GRCh371742,325,758 - 42,345,503 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361739,682,566 - 39,700,993 (-)NCBINCBI36Build 36hg18NCBI36
Build 341739,682,565 - 39,700,993NCBI
Celera1739,034,465 - 39,054,210 (-)NCBICelera
Cytogenetic Map17q21.31NCBI
HuRef1738,089,106 - 38,108,850 (-)NCBIHuRef
CHM1_11742,561,259 - 42,581,020 (-)NCBICHM1_1
T2T-CHM13v2.01745,101,499 - 45,121,240 (-)NCBIT2T-CHM13v2.0
Slc4a1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911102,239,646 - 102,256,107 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl11102,239,650 - 102,257,029 (-)EnsemblGRCm39 Ensembl
GRCm3811102,348,820 - 102,365,281 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11102,348,824 - 102,366,203 (-)EnsemblGRCm38mm10GRCm38
MGSCv3711102,210,134 - 102,226,595 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3611102,164,917 - 102,181,205 (-)NCBIMGSCv36mm8
Celera11114,058,195 - 114,074,658 (-)NCBICelera
Cytogenetic Map11DNCBI
cM Map1166.29NCBI
Slc4a1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81087,807,010 - 87,823,274 (-)NCBIGRCr8
mRatBN7.21087,306,865 - 87,323,132 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1087,306,872 - 87,323,117 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1092,337,653 - 92,353,898 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01091,809,157 - 91,825,395 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01087,202,487 - 87,218,725 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01090,296,144 - 90,312,401 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1090,296,141 - 90,312,386 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01090,084,734 - 90,101,181 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41091,454,824 - 91,471,072 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11091,470,679 - 91,479,502 (-)NCBI
Celera1086,018,849 - 86,032,669 (-)NCBICelera
Cytogenetic Map10q32.1NCBI
Slc4a1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545117,315,024 - 17,328,103 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495545117,318,600 - 17,330,943 (-)NCBIChiLan1.0ChiLan1.0
SLC4A1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21920,646,600 - 20,663,305 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11722,612,307 - 22,627,663 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01713,131,851 - 13,150,872 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11713,302,796 - 13,317,312 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1713,302,796 - 13,317,312 (+)Ensemblpanpan1.1panPan2
SLC4A1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1919,142,884 - 19,159,449 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl919,146,480 - 19,157,915 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha918,535,326 - 18,546,756 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0919,836,393 - 19,852,954 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl919,839,985 - 19,851,420 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1918,693,717 - 18,705,143 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0918,877,006 - 18,888,427 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0919,021,401 - 19,032,836 (+)NCBIUU_Cfam_GSD_1.0
Slc4a1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560218,460,919 - 18,477,383 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936541718,577 - 729,876 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936541718,577 - 727,420 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC4A1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1218,957,807 - 18,974,208 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11218,957,813 - 18,975,266 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21219,180,392 - 19,196,592 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SLC4A1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11662,126,370 - 62,146,192 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1662,131,709 - 62,146,182 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607732,895,386 - 32,915,473 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Slc4a1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624795743,646 - 752,103 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624795739,821 - 752,773 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SLC4A1
610 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000342.4(SLC4A1):c.1199_1225del (p.Ala400_Ala408del) deletion BLOOD GROUP--SWANN SYSTEM [RCV001536118]|Distal renal tubular acidosis [RCV001849272]|Malaria, cerebral, resistance to [RCV000019330]|Renal tubular acidosis, distal, 4, with hemolytic anemia [RCV001807735]|Southeast Asian ovalocytosis [RCV000019329]|not provided [RCV001377074] Chr17:44258043..44258069 [GRCh38]
Chr17:42335411..42335437 [GRCh37]
Chr17:17q21.31		 pathogenic|likely pathogenic|protective
SLC4A1, 13-BP INS, 9-BP DEL indel Autosomal dominant distal renal tubular acidosis [RCV000019355] Chr17:17q21-q22 pathogenic
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2		 pathogenic
NM_000342.4(SLC4A1):c.1626G>A (p.Lys542=) single nucleotide variant not provided [RCV001507898] Chr17:44257350 [GRCh38]
Chr17:42334718 [GRCh37]
Chr17:17q21.31		 pathogenic|conflicting interpretations of pathogenicity
NM_000342.4(SLC4A1):c.229G>A (p.Glu77Lys) single nucleotide variant not provided [RCV000722657] Chr17:44260755 [GRCh38]
Chr17:42338123 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_000342.4(SLC4A1):c.166A>G (p.Lys56Glu) single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000357412]|Band 3 memphis [RCV000019328]|Hemolytic anemia [RCV000260217]|Hereditary spherocytosis type 4 [RCV000989926]|not provided [RCV001515404]|not specified [RCV000251469] Chr17:44261577 [GRCh38]
Chr17:44261577..44261578 [GRCh38]
Chr17:42338945 [GRCh37]
Chr17:42338945..42338946 [GRCh37]
Chr17:17q21.31		 pathogenic|benign|likely benign
NM_000342.3(SLC4A1):c.-62G>A single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV001125831]|BLOOD GROUP--SWANN SYSTEM [RCV002482888]|Hemolytic anemia [RCV001125830]|Hereditary spherocytosis type 4 [RCV000019331]|not provided [RCV002513119] Chr17:44262928 [GRCh38]
Chr17:42340296 [GRCh37]
Chr17:17q21.31		 pathogenic|uncertain significance
NM_000342.3(SLC4A1):c.980C>G (p.Pro327Arg) single nucleotide variant Hereditary spherocytosis type 4 [RCV000019332]|not provided [RCV001811190] Chr17:44258520 [GRCh38]
Chr17:42335888 [GRCh37]
Chr17:17q21.31		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV001127848]|Cryohydrocytosis [RCV000494697]|Distal renal tubular acidosis [RCV003993746]|Hemolytic anemia [RCV000298897]|Hereditary spherocytosis type 4 [RCV000019333]|SLC4A1-related disorder [RCV004549379]|not provided [RCV000512811] Chr17:44261625 [GRCh38]
Chr17:42338993 [GRCh37]
Chr17:17q21.31		 pathogenic|likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records
NM_000342.4(SLC4A1):c.1669G>A (p.Val557Met) single nucleotide variant BLOOD GROUP--WALDNER TYPE [RCV000019334] Chr17:44255804 [GRCh38]
Chr17:42333172 [GRCh37]
Chr17:17q21.31		 pathogenic|affects
NM_000342.3(SLC4A1):c.2464_2465insCACCCAGATG (p.Val822Alafs) duplication Hereditary spherocytosis type 4 [RCV000019335] Chr17:44251435..44251436 [GRCh38]
Chr17:42328803..42328804 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_000342.4(SLC4A1):c.1972G>A (p.Glu658Lys) single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV001125390]|BLOOD GROUP--WRIGHT ANTIGEN [RCV000019336]|Hemolytic anemia [RCV001125391]|Hereditary spherocytosis type 4 [RCV001125389]|not provided [RCV001201773] Chr17:44254581 [GRCh38]
Chr17:42331949 [GRCh37]
Chr17:17q21.31		 pathogenic|affects|benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000342.3(SLC4A1):c.2312G>A (p.Gly771Asp) single nucleotide variant Hereditary spherocytosis type 4 [RCV000019337] Chr17:44251588 [GRCh38]
Chr17:42328956 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_000342.3(SLC4A1):c.988C>T (p.Gln330Ter) single nucleotide variant Hereditary spherocytosis type 4 [RCV000019338] Chr17:44258512 [GRCh38]
Chr17:42335880 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_000342.3(SLC4A1):c.448C>T (p.Arg150Ter) single nucleotide variant Hereditary spherocytosis type 4 [RCV000019339]|not provided [RCV002514115] Chr17:44260441 [GRCh38]
Chr17:42337809 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_000342.4(SLC4A1):c.1766G>A (p.Arg589His) single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000019340]|Distal renal tubular acidosis [RCV001849273]|Inborn genetic diseases [RCV002513120]|SLC4A1-related disorder [RCV004549380]|not provided [RCV001387018] Chr17:44255707 [GRCh38]
Chr17:42333075 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys) single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000019341]|BLOOD GROUP--SWANN SYSTEM [RCV000763403]|Renal tubular acidosis [RCV001328227]|not provided [RCV000681873] Chr17:44255708 [GRCh38]
Chr17:42333076 [GRCh37]
Chr17:17q21.31		 pathogenic|likely pathogenic
NM_000342.4(SLC4A1):c.1838C>T (p.Ser613Phe) single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000019342] Chr17:44255259 [GRCh38]
Chr17:42332627 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_000342.4(SLC4A1):c.1765C>A (p.Arg589Ser) single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000019343]|not provided [RCV001851940] Chr17:44255708 [GRCh38]
Chr17:42333076 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_000342.4(SLC4A1):c.2102G>A (p.Gly701Asp) single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV004760337]|BLOOD GROUP--SWANN SYSTEM [RCV002496416]|Renal tubular acidosis, distal, 4, with hemolytic anemia [RCV000019344]|SLC4A1-related disorder [RCV004549381]|not provided [RCV001381365] Chr17:44253327 [GRCh38]
Chr17:42330695 [GRCh37]
Chr17:17q21.31		 pathogenic|likely pathogenic
NM_000342.4(SLC4A1):c.2561C>T (p.Pro854Leu) single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV001127356]|DIEGO BLOOD GROUP ANTIGEN [RCV000019345]|Hemolytic anemia [RCV000388319]|Hereditary spherocytosis type 4 [RCV000989924]|not provided [RCV000974422]|not specified [RCV000248753] Chr17:44251253 [GRCh38]
Chr17:42328621 [GRCh37]
Chr17:17q21.31		 pathogenic|benign|likely benign
NM_000342.3(SLC4A1):c.388G>A (p.Gly130Arg) single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV001121978]|Hereditary spherocytosis type 4 [RCV000019346]|not provided [RCV003546457] Chr17:44260501 [GRCh38]
Chr17:42337869 [GRCh37]
Chr17:17q21.31		 pathogenic|benign|likely benign
NM_000342.3(SLC4A1):c.2509A>G (p.Thr837Ala) single nucleotide variant Hereditary spherocytosis type 4 [RCV000019347] Chr17:44251305 [GRCh38]
Chr17:42328673 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp) single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000019348]|BLOOD GROUP--SWANN SYSTEM [RCV001536017]|Distal renal tubular acidosis [RCV001849274]|Renal tubular acidosis, distal, 4, with hemolytic anemia [RCV000761459]|not provided [RCV002514116] Chr17:44251241 [GRCh38]
Chr17:42328609 [GRCh37]
Chr17:17q21.31		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000342.4(SLC4A1):c.2545GTG[1] (p.Val850del) microsatellite Renal tubular acidosis, distal, 4, with hemolytic anemia [RCV000019349] Chr17:44251264..44251266 [GRCh38]
Chr17:42328632..42328634 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_000342.3(SLC4A1):c.1462G>A (p.Val488Met) single nucleotide variant BLOOD GROUP--SWANN SYSTEM [RCV002496417]|Hereditary spherocytosis type 4 [RCV000019350]|Renal tubular acidosis, distal, 4, with hemolytic anemia [RCV001254881]|not provided [RCV001851941] Chr17:44257514 [GRCh38]
Chr17:42334882 [GRCh37]
Chr17:17q21.31		 pathogenic|likely pathogenic
NM_000342.4(SLC4A1):c.1936C>T (p.Arg646Trp) single nucleotide variant SWANN BLOOD GROUP ANTIGEN [RCV000019352]|not provided [RCV002513121] Chr17:44254617 [GRCh38]
Chr17:42331985 [GRCh37]
Chr17:17q21.31		 pathogenic|uncertain significance
NM_000342.3(SLC4A1):c.268G>A (p.Glu90Lys) single nucleotide variant Cryohydrocytosis [RCV003989296]|Hereditary spherocytosis type 4 [RCV000019353]|not provided [RCV003137536] Chr17:44260716 [GRCh38]
Chr17:42338084 [GRCh37]
Chr17:17q21.31		 pathogenic|uncertain significance
NM_000342.3(SLC4A1):c.2608C>T (p.Arg870Trp) single nucleotide variant Hereditary spherocytosis type 4 [RCV000019354]|not provided [RCV001093444] Chr17:44251206 [GRCh38]
Chr17:42328574 [GRCh37]
Chr17:17q21.31		 pathogenic|likely pathogenic
NM_000342.4(SLC4A1):c.2317T>C (p.Ser773Pro) single nucleotide variant Renal tubular acidosis, distal, with normal red cell morphology [RCV000019356] Chr17:44251583 [GRCh38]
Chr17:42328951 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_000342.4(SLC4A1):c.1805G>C (p.Arg602Pro) single nucleotide variant Renal tubular acidosis, distal, 4, with hemolytic anemia [RCV000019357] Chr17:44255292 [GRCh38]
Chr17:42332660 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_000342.3(SLC4A1):c.2279G>A (p.Arg760Gln) single nucleotide variant Hereditary spherocytosis type 4 [RCV000019358]|not provided [RCV002227042] Chr17:44253150 [GRCh38]
Chr17:42330518 [GRCh37]
Chr17:17q21.31		 pathogenic|likely pathogenic
NM_000342.4(SLC4A1):c.1438G>A (p.Glu480Lys) single nucleotide variant BLOOD GROUP--FROESE [RCV000019359] Chr17:44257538 [GRCh38]
Chr17:42334906 [GRCh37]
Chr17:17q21.31		 pathogenic|affects
NM_000342.4(SLC4A1):c.1937G>A (p.Arg646Gln) single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV001127475]|Hemolytic anemia [RCV001127477]|Hereditary spherocytosis type 4 [RCV001127476]|SWANN BLOOD GROUP ANTIGEN [RCV000019360]|not provided [RCV001507896]|not specified [RCV001001070] Chr17:44254616 [GRCh38]
Chr17:42331984 [GRCh37]
Chr17:17q21.31		 pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000342.4(SLC4A1):c.2603C>T (p.Pro868Leu) single nucleotide variant Acanthocytosis [RCV000991183]|Acanthocytosis due to band 3 HT [RCV000019361]|Autosomal dominant distal renal tubular acidosis [RCV001126942]|Hemolytic anemia [RCV001126941]|Hereditary spherocytosis type 4 [RCV001124275]|SLC4A1-related disorder [RCV004549382]|not provided [RCV002054448]|not specified [RCV002247370] Chr17:44251211 [GRCh38]
Chr17:42328579 [GRCh37]
Chr17:17q21.31		 pathogenic|benign|likely benign|uncertain significance
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3		 pathogenic
GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3 copy number gain See cases [RCV000052479] Chr17:39199873..45629579 [GRCh38]
Chr17:37356126..43706945 [GRCh37]
Chr17:34609652..41062728 [NCBI36]
Chr17:17q12-21.31		 pathogenic
GRCh38/hg38 17q21.31(chr17:43570878-44762377)x1 copy number loss See cases [RCV000053429] Chr17:43570878..44762377 [GRCh38]
Chr17:41648246..42839745 [GRCh37]
Chr17:39003772..40195271 [NCBI36]
Chr17:17q21.31		 pathogenic
NM_000342.4(SLC4A1):c.1284A>G (p.Gly428=) single nucleotide variant not provided [RCV000054607] Chr17:44257806 [GRCh38]
Chr17:42335174 [GRCh37]
Chr17:17q21.31		 likely benign|uncertain significance
NM_000342.4(SLC4A1):c.1375C>T (p.Leu459=) single nucleotide variant not provided [RCV000054608] Chr17:44257715 [GRCh38]
Chr17:42335083 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_000342.4(SLC4A1):c.2694G>A (p.Glu898=) single nucleotide variant not provided [RCV000054609] Chr17:44250500 [GRCh38]
Chr17:42327868 [GRCh37]
Chr17:17q21.31		 likely benign|uncertain significance
NM_000342.4(SLC4A1):c.2701C>T (p.Arg901Trp) single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000346002]|Hemolytic anemia [RCV000391446]|Hereditary spherocytosis type 4 [RCV000306677]|not provided [RCV000054610] Chr17:44250493 [GRCh38]
Chr17:42327861 [GRCh37]
Chr17:17q21.31		 benign|uncertain significance
NM_000342.3(SLC4A1):c.2659G>A (p.Asp887Asn) single nucleotide variant Malignant melanoma [RCV000071504] Chr17:44250535 [GRCh38]
Chr17:42327903 [GRCh37]
Chr17:39683429 [NCBI36]
Chr17:17q21.31		 not provided
NM_000342.3(SLC4A1):c.1881C>T (p.Thr627=) single nucleotide variant Malignant melanoma [RCV000071505] Chr17:44255216 [GRCh38]
Chr17:42332584 [GRCh37]
Chr17:39688110 [NCBI36]
Chr17:17q21.31		 not provided
NM_000342.3(SLC4A1):c.550C>T (p.Pro184Ser) single nucleotide variant Malignant melanoma [RCV000071506] Chr17:44259868 [GRCh38]
Chr17:42337236 [GRCh37]
Chr17:39692762 [NCBI36]
Chr17:17q21.31		 not provided
NM_000342.3(SLC4A1):c.207G>A (p.Lys69=) single nucleotide variant Malignant melanoma [RCV000071507] Chr17:44260777 [GRCh38]
Chr17:42338145 [GRCh37]
Chr17:39693671 [NCBI36]
Chr17:17q21.31		 not provided
NM_000342.4(SLC4A1):c.985G>A (p.Glu329Lys) single nucleotide variant BLOOD GROUP--SWANN SYSTEM [RCV002488301]|not provided [RCV001507385] Chr17:44258515 [GRCh38]
Chr17:42335883 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_000342.4(SLC4A1):c.277G>T (p.Ala93Ser) single nucleotide variant Inborn genetic diseases [RCV002567971]|not provided [RCV001507388] Chr17:44260707 [GRCh38]
Chr17:42338075 [GRCh37]
Chr17:17q21.31		 conflicting interpretations of pathogenicity|uncertain significance
NM_000342.4(SLC4A1):c.2387G>C (p.Gly796Ala) single nucleotide variant BLOOD GROUP--SWANN SYSTEM [RCV002499498]|not provided [RCV001507891] Chr17:44251513 [GRCh38]
Chr17:42328881 [GRCh37]
Chr17:17q21.31		 uncertain significance
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1		 pathogenic
GRCh38/hg38 17q21.31(chr17:43934167-44854025)x1 copy number loss See cases [RCV000134949] Chr17:43934167..44854025 [GRCh38]
Chr17:42011535..42931393 [GRCh37]
Chr17:39367061..40286919 [NCBI36]
Chr17:17q21.31		 pathogenic
NM_000342.4(SLC4A1):c.2060T>C (p.Leu687Pro) single nucleotide variant Cryohydrocytosis [RCV000202408] Chr17:44253369 [GRCh38]
Chr17:42330737 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_000342.4(SLC4A1):c.2191T>C (p.Ser731Pro) single nucleotide variant Cryohydrocytosis [RCV000202410] Chr17:44253238 [GRCh38]
Chr17:42330606 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_000342.4(SLC4A1):c.2201A>G (p.His734Arg) single nucleotide variant Cryohydrocytosis [RCV000202413]|not provided [RCV003556253] Chr17:44253228 [GRCh38]
Chr17:42330596 [GRCh37]
Chr17:17q21.31		 pathogenic|uncertain significance
NM_000342.4(SLC4A1):c.349+1G>A single nucleotide variant not provided [RCV000766109] Chr17:44260634 [GRCh38]
Chr17:42338002 [GRCh37]
Chr17:17q21.31		 pathogenic|likely pathogenic
NM_000342.4(SLC4A1):c.202G>T (p.Glu68Ter) single nucleotide variant not provided [RCV000756656] Chr17:44260782 [GRCh38]
Chr17:42338150 [GRCh37]
Chr17:17q21.31		 pathogenic|likely pathogenic
NM_000342.4(SLC4A1):c.2713G>C (p.Asp905His) single nucleotide variant not provided [RCV001507889] Chr17:44250481 [GRCh38]
Chr17:42327849 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_000342.4(SLC4A1):c.1825G>A (p.Gly609Arg) single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV004668860]|Renal tubular acidosis [RCV001328264]|Southeast Asian ovalocytosis [RCV003333055]|not provided [RCV000224119] Chr17:44255272 [GRCh38]
Chr17:42332640 [GRCh37]
Chr17:17q21.31		 pathogenic|likely pathogenic
NM_000342.4(SLC4A1):c.1770G>A (p.Lys590=) single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000289726]|Hemolytic anemia [RCV000381726]|Hereditary spherocytosis type 4 [RCV000329580]|not provided [RCV001513235]|not specified [RCV000243491] Chr17:44255703 [GRCh38]
Chr17:42333071 [GRCh37]
Chr17:17q21.31		 benign|likely benign
NM_000342.4(SLC4A1):c.924G>A (p.Leu308=) single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000375445]|Hemolytic anemia [RCV000335955]|Hereditary spherocytosis type 4 [RCV000278592]|not provided [RCV000756655]|not specified [RCV000246012] Chr17:44258576 [GRCh38]
Chr17:42335944 [GRCh37]
Chr17:17q21.31		 benign|likely benign
NM_000342.4(SLC4A1):c.1800+12C>T single nucleotide variant BLOOD GROUP--SWANN SYSTEM [RCV002487118]|not provided [RCV002518575]|not specified [RCV000248420] Chr17:44255661 [GRCh38]
Chr17:42333029 [GRCh37]
Chr17:17q21.31		 benign|likely benign
NM_000342.4(SLC4A1):c.-3G>A single nucleotide variant not provided [RCV004703512]|not specified [RCV000250881] Chr17:44262869 [GRCh38]
Chr17:42340237 [GRCh37]
Chr17:17q21.31		 likely benign
NM_000342.4(SLC4A1):c.2311+19G>A single nucleotide variant not provided [RCV001512783]|not specified [RCV000243776] Chr17:44253099 [GRCh38]
Chr17:42330467 [GRCh37]
Chr17:17q21.31		 benign
NM_000342.4(SLC4A1):c.2584G>A (p.Val862Ile) single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000259837]|Hemolytic anemia [RCV000373059]|Hereditary spherocytosis type 4 [RCV000333719]|not provided [RCV000755389]|not specified [RCV000253682] Chr17:44251230 [GRCh38]
Chr17:42328598 [GRCh37]
Chr17:17q21.31		 benign|likely benign
NM_000342.4(SLC4A1):c.2688T>C (p.Asp896=) single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000303000]|Hemolytic anemia [RCV000266644]|Hereditary spherocytosis type 4 [RCV000361413]|not provided [RCV000755388]|not specified [RCV000244054] Chr17:44250506 [GRCh38]
Chr17:42327874 [GRCh37]
Chr17:17q21.31		 benign|likely benign
NM_000342.4(SLC4A1):c.16-14G>A single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000272446]|Hemolytic anemia [RCV000324926]|Hereditary spherocytosis type 4 [RCV000383264]|not provided [RCV001520172]|not specified [RCV000246538] Chr17:44262740 [GRCh38]
Chr17:42340108 [GRCh37]
Chr17:17q21.31		 benign|likely benign
NM_000342.4(SLC4A1):c.2712C>T (p.Tyr904=) single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000349598]|BLOOD GROUP--SWANN SYSTEM [RCV002494704]|Hemolytic anemia [RCV000391448]|Hereditary spherocytosis type 4 [RCV000309748]|not provided [RCV001511907]|not specified [RCV000249017] Chr17:44250482 [GRCh38]
Chr17:42327850 [GRCh37]
Chr17:17q21.31		 benign|likely benign
NM_000342.4(SLC4A1):c.539G>A (p.Arg180His) single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV001127764]|Hemolytic anemia [RCV001127763]|Hereditary spherocytosis type 4 [RCV000709888]|Hereditary spherocytosis type 4 [RCV001127762]|not provided [RCV000756654]|not specified [RCV000253978] Chr17:44259879 [GRCh38]
Chr17:42337247 [GRCh37]
Chr17:17q21.31		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000342.4(SLC4A1):c.1953C>T (p.His651=) single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000277845]|Hemolytic anemia [RCV000370137]|Hereditary spherocytosis type 4 [RCV000296951]|not provided [RCV000882043]|not specified [RCV000251765] Chr17:44254600 [GRCh38]
Chr17:42331968 [GRCh37]
Chr17:17q21.31		 benign|likely benign
NM_000342.4(SLC4A1):c.113A>C (p.Asp38Ala) single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000370005]|Hemolytic anemia [RCV000273549]|Hereditary spherocytosis type 4 [RCV000330909]|not provided [RCV001509619]|not specified [RCV000242676] Chr17:44261630 [GRCh38]
Chr17:42338998 [GRCh37]
Chr17:17q21.31		 benign|likely benign
NM_000342.4(SLC4A1):c.1249C>T (p.Leu417=) single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000324161]|Hemolytic anemia [RCV000363360]|Hereditary spherocytosis type 4 [RCV000266715]|not provided [RCV001517614]|not specified [RCV000252603] Chr17:44258019 [GRCh38]
Chr17:42335387 [GRCh37]
Chr17:17q21.31		 benign|likely benign
NM_000342.4(SLC4A1):c.1323G>A (p.Leu441=) single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000406913]|Hemolytic anemia [RCV000312308]|Hereditary spherocytosis type 4 [RCV000370503]|not provided [RCV001511303]|not specified [RCV000243177] Chr17:44257767 [GRCh38]
Chr17:42335135 [GRCh37]
Chr17:17q21.31		 benign|likely benign
NM_000342.4(SLC4A1):c.*12_*17del deletion not specified [RCV000245725] Chr17:44250441..44250446 [GRCh38]
Chr17:42327809..42327814 [GRCh37]
Chr17:17q21.31		 likely benign
NM_000342.4(SLC4A1):c.*1273del deletion Distal Renal Tubular Acidosis, Dominant [RCV000359379]|Hemolytic anemia [RCV000319937]|Spherocytosis, Dominant [RCV000264763] Chr17:44249185 [GRCh38]
Chr17:42326553 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_000342.4(SLC4A1):c.1225G>A (p.Val409Ile) single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000376413]|Hemolytic anemia [RCV000284250]|Hereditary spherocytosis type 4 [RCV000318444] Chr17:44258043 [GRCh38]
Chr17:42335411 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_000342.4(SLC4A1):c.-60G>A single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000336909]|Hemolytic anemia [RCV000376466]|Hereditary spherocytosis type 4 [RCV000284321]|SLC4A1-related disorder [RCV004549703] Chr17:44262926 [GRCh38]
Chr17:42340294 [GRCh37]
Chr17:17q21.31		 benign|likely benign|uncertain significance
NM_000342.4(SLC4A1):c.*1103del deletion Distal Renal Tubular Acidosis, Dominant [RCV000357983]|Hemolytic anemia [RCV000393520]|Spherocytosis, Dominant [RCV000303238] Chr17:44249355 [GRCh38]
Chr17:42326723 [GRCh37]
Chr17:17q21.31		 likely benign
NM_000342.4(SLC4A1):c.*794del deletion Distal Renal Tubular Acidosis, Dominant [RCV000285291]|Hemolytic anemia [RCV000398976]|Spherocytosis, Dominant [RCV000340178] Chr17:44249664 [GRCh38]
Chr17:42327032 [GRCh37]
Chr17:17q21.31		 likely benign
NM_000342.4(SLC4A1):c.173A>G (p.Tyr58Cys) single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000339556]|Hemolytic anemia [RCV000392701]|Hereditary spherocytosis type 4 [RCV000305664]|not provided [RCV003565409] Chr17:44260811 [GRCh38]
Chr17:42338179 [GRCh37]
Chr17:17q21.31		 benign|likely benign|uncertain significance
NM_000342.4(SLC4A1):c.*1676A>G single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000359568]|Hemolytic anemia [RCV000302425]|Hereditary spherocytosis type 4 [RCV000270037] Chr17:44248782 [GRCh38]
Chr17:42326150 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_000342.4(SLC4A1):c.1878T>C (p.Asp626=) single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000368828]|Hemolytic anemia [RCV000272124]|Hereditary spherocytosis type 4 [RCV000330517]|not provided [RCV000756653] Chr17:44255219 [GRCh38]
Chr17:42332587 [GRCh37]
Chr17:17q21.31		 benign|likely benign
NM_000342.4(SLC4A1):c.*897G>A single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000329233]|Hemolytic anemia [RCV000274108]|Hereditary spherocytosis type 4 [RCV000383832]|not provided [RCV004709656] Chr17:44249561 [GRCh38]
Chr17:44249561..44249562 [GRCh38]
Chr17:42326929 [GRCh37]
Chr17:42326929..42326930 [GRCh37]
Chr17:17q21.31		 benign|likely benign
NM_000342.4(SLC4A1):c.286C>T (p.Arg96Cys) single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000275834]|Hemolytic anemia [RCV000334118]|Hereditary spherocytosis type 4 [RCV000386246]|not provided [RCV001355054] Chr17:44260698 [GRCh38]
Chr17:42338066 [GRCh37]
Chr17:17q21.31		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000342.4(SLC4A1):c.216G>T (p.Glu72Asp) single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000294205]|BLOOD GROUP--SWANN SYSTEM [RCV002502252]|Hemolytic anemia [RCV000385219]|Hereditary spherocytosis type 4 [RCV000346820]|not provided [RCV000949001] Chr17:44260768 [GRCh38]
Chr17:42338136 [GRCh37]
Chr17:17q21.31		 benign|likely benign
NM_000342.4(SLC4A1):c.*1237C>T single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000388956]|Hemolytic anemia [RCV000294574]|Hereditary spherocytosis type 4 [RCV000330864] Chr17:44249221 [GRCh38]
Chr17:42326589 [GRCh37]
Chr17:17q21.31		 benign|likely benign|uncertain significance
NM_000342.4(SLC4A1):c.*135G>A single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000334536]|Hemolytic anemia [RCV000294659]|Hereditary spherocytosis type 4 [RCV000389044]|not provided [RCV004710818] Chr17:44250323 [GRCh38]
Chr17:42327691 [GRCh37]
Chr17:17q21.31		 benign|likely benign
NM_000342.4(SLC4A1):c.*1721G>A single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000263581]|Hemolytic anemia [RCV000356023]|Hereditary spherocytosis type 4 [RCV000298752]|not provided [RCV004709654] Chr17:44248737 [GRCh38]
Chr17:42326105 [GRCh37]
Chr17:17q21.31		 benign|likely benign
NM_000342.4(SLC4A1):c.*270G>A single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000281283]|Hemolytic anemia [RCV000375672]|Hereditary spherocytosis type 4 [RCV000321036]|not provided [RCV004709658] Chr17:44250188 [GRCh38]
Chr17:42327556 [GRCh37]
Chr17:17q21.31		 benign|likely benign
NM_000342.4(SLC4A1):c.*335G>A single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000328338]|Hemolytic anemia [RCV000269258]|Hereditary spherocytosis type 4 [RCV000363929]|not provided [RCV004709657] Chr17:44250123 [GRCh38]
Chr17:42327491 [GRCh37]
Chr17:17q21.31		 benign|likely benign
NM_000342.4(SLC4A1):c.*1568G>A single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000390742]|Hemolytic anemia [RCV000308122]|Hereditary spherocytosis type 4 [RCV000348109]|not provided [RCV004709655] Chr17:44248890 [GRCh38]
Chr17:44248890..44248891 [GRCh38]
Chr17:42326258 [GRCh37]
Chr17:42326258..42326259 [GRCh37]
Chr17:17q21.31		 benign|likely benign
NM_000342.4(SLC4A1):c.1314G>A (p.Ser438=) single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000364463]|Hemolytic anemia [RCV000272229]|Hereditary spherocytosis type 4 [RCV000324978]|not provided [RCV000892116] Chr17:44257776 [GRCh38]
Chr17:42335144 [GRCh37]
Chr17:17q21.31		 benign|likely benign
NM_000342.4(SLC4A1):c.876+14G>A single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000391080]|Hemolytic anemia [RCV000362485]|Hereditary spherocytosis type 4 [RCV000310154]|not provided [RCV002056603] Chr17:44259149 [GRCh38]
Chr17:42336517 [GRCh37]
Chr17:17q21.31		 likely benign|uncertain significance
NM_000342.4(SLC4A1):c.*1608dup duplication Distal Renal Tubular Acidosis, Dominant [RCV000266430]|Hemolytic anemia [RCV000379662]|Spherocytosis, Dominant [RCV000325067] Chr17:44248849..44248850 [GRCh38]
Chr17:42326217..42326218 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_000342.4(SLC4A1):c.*349G>A single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000367837]|Hemolytic anemia [RCV000313215]|Hereditary spherocytosis type 4 [RCV000273218]|not provided [RCV001660666] Chr17:44250109 [GRCh38]
Chr17:42327477 [GRCh37]
Chr17:17q21.31		 benign|likely benign
NM_000342.4(SLC4A1):c.1431+15G>T single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000282543]|Hemolytic anemia [RCV000398732]|Hereditary spherocytosis type 4 [RCV000340787] Chr17:44257644 [GRCh38]
Chr17:42335012 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_000342.4(SLC4A1):c.*947C>G single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000368719]|Hemolytic anemia [RCV000277552]|Hereditary spherocytosis type 4 [RCV000332620] Chr17:44249511 [GRCh38]
Chr17:42326879 [GRCh37]
Chr17:17q21.31		 benign|likely benign|uncertain significance
NM_000342.4(SLC4A1):c.-135G>A single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000314993]|Hemolytic anemia [RCV000367349]|Hereditary spherocytosis type 4 [RCV000407011]|not provided [RCV004703722] Chr17:44268120 [GRCh38]
Chr17:42345488 [GRCh37]
Chr17:17q21.31		 benign|likely benign|uncertain significance
NM_000342.4(SLC4A1):c.*408C>T single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000336677]|Hemolytic anemia [RCV000281683]|Hereditary spherocytosis type 4 [RCV000407959]|not provided [RCV002260635] Chr17:44250050 [GRCh38]
Chr17:42327418 [GRCh37]
Chr17:17q21.31		 benign|likely benign
NM_000342.4(SLC4A1):c.-136C>T single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000307890]|Hemolytic anemia [RCV000407012]|Hereditary spherocytosis type 4 [RCV000362553]|not provided [RCV002261067] Chr17:44268121 [GRCh38]
Chr17:42345489 [GRCh37]
Chr17:17q21.31		 benign|likely benign|uncertain significance
NM_000342.4(SLC4A1):c.-30C>T single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000342575]|Hemolytic anemia [RCV000285306]|Hereditary spherocytosis type 4 [RCV000381897] Chr17:44262896 [GRCh38]
Chr17:42340264 [GRCh37]
Chr17:17q21.31		 benign|likely benign|uncertain significance
NM_000342.4(SLC4A1):c.202G>A (p.Glu68Lys) single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000288475]|Hemolytic anemia [RCV000401440]|Hereditary spherocytosis type 4 [RCV000345874]|SLC4A1-related disorder [RCV004549702]|not provided [RCV001850728] Chr17:44260782 [GRCh38]
Chr17:42338150 [GRCh37]
Chr17:17q21.31		 benign|likely benign|uncertain significance
NM_000342.4(SLC4A1):c.636A>G (p.Ser212=) single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000264081]|Hemolytic anemia [RCV000302969]|Hereditary spherocytosis type 4 [RCV000355427]|not provided [RCV002522979] Chr17:44259555 [GRCh38]
Chr17:42336923 [GRCh37]
Chr17:17q21.31		 likely benign|uncertain significance
NM_000342.4(SLC4A1):c.*1227A>C single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000291047]|Hemolytic anemia [RCV000346357]|Hereditary spherocytosis type 4 [RCV000385299] Chr17:44249231 [GRCh38]
Chr17:42326599 [GRCh37]
Chr17:17q21.31		 benign|likely benign
NM_000342.4(SLC4A1):c.884G>A (p.Arg295His) single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000292781]|Hemolytic anemia [RCV000350082]|Hereditary spherocytosis type 4 [RCV000401141]|not provided [RCV001050523] Chr17:44258616 [GRCh38]
Chr17:42335984 [GRCh37]
Chr17:17q21.31		 benign|likely benign|uncertain significance
NM_000342.4(SLC4A1):c.1431+13T>G single nucleotide variant Distal Renal Tubular Acidosis, Dominant [RCV000335191]|Hemolytic anemia [RCV000408084]|Spherocytosis, Dominant [RCV000313462] Chr17:44257646 [GRCh38]
Chr17:42335014 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_000342.4(SLC4A1):c.*1273G>T single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000315811]|Hemolytic anemia [RCV000260594]|Hereditary spherocytosis type 4 [RCV000374043] Chr17:44249185 [GRCh38]
Chr17:42326553 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_000342.4(SLC4A1):c.*351G>T single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000297912]|Hemolytic anemia [RCV000403331]|Hereditary spherocytosis type 4 [RCV000371331] Chr17:44250107 [GRCh38]
Chr17:42327475 [GRCh37]
Chr17:17q21.31		 benign|uncertain significance
NM_000342.4(SLC4A1):c.457C>A (p.Leu153Met) single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000262760]|Hemolytic anemia [RCV000372661]|Hereditary spherocytosis type 4 [RCV000315657]|not provided [RCV001812856] Chr17:44260432 [GRCh38]
Chr17:42337800 [GRCh37]
Chr17:17q21.31		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000342.4(SLC4A1):c.2208C>T (p.Asn736=) single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000262833]|Hemolytic anemia [RCV000302762]|Hereditary spherocytosis type 4 [RCV000355227]|not provided [RCV000901725] Chr17:44253221 [GRCh38]
Chr17:42330589 [GRCh37]
Chr17:17q21.31		 likely benign|uncertain significance
NM_000342.4(SLC4A1):c.2630T>C (p.Ile877Thr) single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000318381]|Hemolytic anemia [RCV000263312]|Hereditary spherocytosis type 4 [RCV000358059] Chr17:44251184 [GRCh38]
Chr17:42328552 [GRCh37]
Chr17:17q21.31		 likely benign|uncertain significance
NM_000342.4(SLC4A1):c.*1606_*1608dup duplication Distal Renal Tubular Acidosis, Dominant [RCV000321442]|Hemolytic anemia [RCV000376092]|Spherocytosis, Dominant [RCV000281447]|not provided [RCV004694327] Chr17:44248849..44248850 [GRCh38]
Chr17:42326217..42326218 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_000342.4(SLC4A1):c.*1316C>T single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000304672]|Hemolytic anemia [RCV000268144]|Hereditary spherocytosis type 4 [RCV000362693] Chr17:44249142 [GRCh38]
Chr17:42326510 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_000342.4(SLC4A1):c.*333C>A single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000379031]|Hemolytic anemia [RCV000324493]|Hereditary spherocytosis type 4 [RCV000265877]|not provided [RCV001672537] Chr17:44250125 [GRCh38]
Chr17:44250125..44250126 [GRCh38]
Chr17:42327493 [GRCh37]
Chr17:42327493..42327494 [GRCh37]
Chr17:17q21.31		 benign|likely benign
NM_000342.4(SLC4A1):c.697C>G (p.Arg233Gly) single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000361153]|Hemolytic anemia [RCV000304240]|Hereditary spherocytosis type 4 [RCV000391038] Chr17:44259342 [GRCh38]
Chr17:42336710 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_000342.4(SLC4A1):c.2294T>C (p.Leu765Pro) single nucleotide variant not provided [RCV000722799] Chr17:44253135 [GRCh38]
Chr17:42330503 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_000342.4(SLC4A1):c.2243G>A (p.Gly748Glu) single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000393731]|BLOOD GROUP--SWANN SYSTEM [RCV002487421]|Hemolytic anemia [RCV000343888]|Hereditary spherocytosis type 4 [RCV000291301] Chr17:44253186 [GRCh38]
Chr17:42330554 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_000342.4(SLC4A1):c.2210C>T (p.Ala737Val) single nucleotide variant Distal Renal Tubular Acidosis, Dominant [RCV000393610]|Hemolytic anemia [RCV000304165]|Hereditary spherocytosis type 4 [RCV003329116]|Spherocytosis, Dominant [RCV000342542] Chr17:44253219 [GRCh38]
Chr17:42330587 [GRCh37]
Chr17:17q21.31		 pathogenic|uncertain significance
NM_000342.4(SLC4A1):c.2482-9C>T single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000348988]|Hemolytic anemia [RCV000384900]|Hereditary spherocytosis type 4 [RCV000294018] Chr17:44251341 [GRCh38]
Chr17:42328709 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_000342.4(SLC4A1):c.1637A>G (p.Asp546Gly) single nucleotide variant Distal Renal Tubular Acidosis, Dominant [RCV000380114]|Hemolytic anemia [RCV000283388]|Spherocytosis, Dominant [RCV000323184] Chr17:44255836 [GRCh38]
Chr17:42333204 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_000342.4(SLC4A1):c.*1608del deletion Distal Renal Tubular Acidosis, Dominant [RCV000296828]|Hemolytic anemia [RCV000336477]|Spherocytosis, Dominant [RCV000372553]|not provided [RCV004694328] Chr17:44248850 [GRCh38]
Chr17:42326218 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_000342.4(SLC4A1):c.-65C>A single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000335876]|Hemolytic anemia [RCV000297314]|Hereditary spherocytosis type 4 [RCV000398736] Chr17:44262931 [GRCh38]
Chr17:42340299 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_000342.4(SLC4A1):c.*1198A>T single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000342947]|Hemolytic anemia [RCV000287966]|Hereditary spherocytosis type 4 [RCV000393503] Chr17:44249260 [GRCh38]
Chr17:42326628 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_000342.4(SLC4A1):c.*977G>A single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000298682]|Hemolytic anemia [RCV000405143]|Hereditary spherocytosis type 4 [RCV000353595] Chr17:44249481 [GRCh38]
Chr17:42326849 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_000342.4(SLC4A1):c.*872G>C single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000325116]|Hemolytic anemia [RCV000379710]|Hereditary spherocytosis type 4 [RCV000288862] Chr17:44249586 [GRCh38]
Chr17:42326954 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_000342.4(SLC4A1):c.*1596A>C single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000391528]|Hemolytic anemia [RCV000351437]|Hereditary spherocytosis type 4 [RCV000311970] Chr17:44248862 [GRCh38]
Chr17:42326230 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_000342.4(SLC4A1):c.*1832G>A single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000352337]|Hemolytic anemia [RCV000313846]|Hereditary spherocytosis type 4 [RCV000405769] Chr17:44248626 [GRCh38]
Chr17:42325994 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_000342.4(SLC4A1):c.876+1G>A single nucleotide variant not provided [RCV000598987] Chr17:44259162 [GRCh38]
Chr17:42336530 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_000342.3(SLC4A1):c.(1094_1375)_(2057+11_2058-41)del deletion Hereditary spherocytosis type 4 [RCV000623256]   pathogenic
NM_000342.4(SLC4A1):c.1458C>G (p.Tyr486Ter) single nucleotide variant Hereditary spherocytosis type 4 [RCV000655902] Chr17:44257518 [GRCh38]
Chr17:42334886 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_000342.4(SLC4A1):c.695-3C>A single nucleotide variant Hereditary spherocytosis type 4 [RCV000655905] Chr17:44259347 [GRCh38]
Chr17:42336715 [GRCh37]
Chr17:17q21.31		 likely pathogenic
NM_000342.4(SLC4A1):c.486-2A>G single nucleotide variant Hereditary spherocytosis type 4 [RCV000655903] Chr17:44259934 [GRCh38]
Chr17:42337302 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_000342.3(SLC4A1):c.-195A>G single nucleotide variant not provided [RCV000766110] Chr17:44268180 [GRCh38]
Chr17:44268180..44268181 [GRCh38]
Chr17:42345548 [GRCh37]
Chr17:42345548..42345549 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_000342.4(SLC4A1):c.515dup (p.Val173fs) duplication not provided [RCV003491871] Chr17:44259902..44259903 [GRCh38]
Chr17:42337270..42337271 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_000342.4(SLC4A1):c.569_579del (p.Pro190fs) deletion not provided [RCV000413863] Chr17:44259839..44259849 [GRCh38]
Chr17:42337207..42337217 [GRCh37]
Chr17:17q21.31		 pathogenic
GRCh37/hg19 17q21.31(chr17:42326687-42340056)x3 copy number gain See cases [RCV000445740] Chr17:42326687..42340056 [GRCh37]
Chr17:17q21.31		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_000342.4(SLC4A1):c.1574C>T (p.Ser525Phe) single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV000505669]|not provided [RCV002524424] Chr17:44257402 [GRCh38]
Chr17:42334770 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_000342.4(SLC4A1):c.1876G>A (p.Asp626Asn) single nucleotide variant Inborn genetic diseases [RCV003282801] Chr17:44255221 [GRCh38]
Chr17:42332589 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_000342.4(SLC4A1):c.1795G>A (p.Gly599Ser) single nucleotide variant Inborn genetic diseases [RCV003290738] Chr17:44255678 [GRCh38]
Chr17:42333046 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_000342.4(SLC4A1):c.2612G>A (p.Arg871His) single nucleotide variant BLOOD GROUP--SWANN SYSTEM [RCV002476070]|not provided [RCV000518857] Chr17:44251202 [GRCh38]
Chr17:42328570 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_000342.4(SLC4A1):c.2464G>A (p.Val822Met) single nucleotide variant Inborn genetic diseases [RCV003258460] Chr17:44251436 [GRCh38]
Chr17:42328804 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_000342.4(SLC4A1):c.2423G>A (p.Arg808His) single nucleotide variant Hereditary spherocytosis type 4 [RCV000655906]|Hereditary spherocytosis type 4 [RCV002290971]|not provided [RCV003140049] Chr17:44251477 [GRCh38]
Chr17:42328845 [GRCh37]
Chr17:17q21.31		 pathogenic|likely pathogenic
NM_000342.4(SLC4A1):c.1631T>C (p.Phe544Ser) single nucleotide variant Inborn genetic diseases [RCV003285309] Chr17:44255842 [GRCh38]
Chr17:42333210 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_000342.4(SLC4A1):c.1721C>T (p.Ser574Phe) single nucleotide variant Inborn genetic diseases [RCV003280105] Chr17:44255752 [GRCh38]
Chr17:42333120 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_000342.4(SLC4A1):c.2035T>C (p.Phe679Leu) single nucleotide variant Inborn genetic diseases [RCV000622973] Chr17:44254518 [GRCh38]
Chr17:42331886 [GRCh37]
Chr17:17q21.31		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_000342.4(SLC4A1):c.1322T>G (p.Leu441Arg) single nucleotide variant Hereditary spherocytosis type 4 [RCV000655904] Chr17:44257768 [GRCh38]
Chr17:42335136 [GRCh37]
Chr17:17q21.31		 likely pathogenic
NM_000342.4(SLC4A1):c.2149G>A (p.Ala717Thr) single nucleotide variant Inborn genetic diseases [RCV002536332]|not provided [RCV000658782] Chr17:44253280 [GRCh38]
Chr17:42330648 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_000342.4(SLC4A1):c.1480G>A (p.Gly494Ser) single nucleotide variant BLOOD GROUP--SWANN SYSTEM [RCV002499135]|not provided [RCV000658783] Chr17:44257496 [GRCh38]
Chr17:42334864 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_000342.4(SLC4A1):c.1319T>A (p.Leu440Gln) single nucleotide variant Renal tubular acidosis, distal, 4, with hemolytic anemia [RCV001808161] Chr17:44257771 [GRCh38]
Chr17:42335139 [GRCh37]
Chr17:17q21.31		 uncertain significance
GRCh37/hg19 17q21.31(chr17:42326687-42340104)x3 copy number gain not provided [RCV000709837] Chr17:42326687..42340104 [GRCh37]
Chr17:17q21.31		 not provided
NM_000342.4(SLC4A1):c.1541G>A (p.Arg514His) single nucleotide variant BLOOD GROUP--SWANN SYSTEM [RCV002507278]|not provided [RCV000722947] Chr17:44257435 [GRCh38]
Chr17:42334803 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_000342.4(SLC4A1):c.1469G>A (p.Arg490His) single nucleotide variant not provided [RCV002550748]|not specified [RCV001001226] Chr17:44257507 [GRCh38]
Chr17:42334875 [GRCh37]
Chr17:17q21.31		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q21.31(chr17:42245241-42332803)x1 copy number loss not provided [RCV000739522] Chr17:42245241..42332803 [GRCh37]
Chr17:17q21.31		 benign
NM_000342.4(SLC4A1):c.169-270C>T single nucleotide variant not provided [RCV001611209] Chr17:44261085 [GRCh38]
Chr17:42338453 [GRCh37]
Chr17:17q21.31		 benign
NM_000342.4(SLC4A1):c.877-158G>A single nucleotide variant not provided [RCV001708002] Chr17:44258781 [GRCh38]
Chr17:42336149 [GRCh37]
Chr17:17q21.31		 benign
NM_000342.4(SLC4A1):c.2312-48T>G single nucleotide variant not provided [RCV001708022] Chr17:44251636 [GRCh38]
Chr17:42329004 [GRCh37]
Chr17:17q21.31		 benign
NM_000342.4(SLC4A1):c.37G>T (p.Glu13Ter) single nucleotide variant not provided [RCV001702298] Chr17:44262705 [GRCh38]
Chr17:42340073 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_000342.4(SLC4A1):c.1890+1G>A single nucleotide variant not provided [RCV000761960] Chr17:44255206 [GRCh38]
Chr17:42332574 [GRCh37]
Chr17:17q21.31		 pathogenic|likely pathogenic
NM_000342.4(SLC4A1):c.1030C>T (p.Arg344Ter) single nucleotide variant BLOOD GROUP--SWANN SYSTEM [RCV002477748]|not provided [RCV000760412] Chr17:44258470 [GRCh38]
Chr17:42335838 [GRCh37]
Chr17:17q21.31		 pathogenic|likely pathogenic
NM_000342.4(SLC4A1):c.1432-38A>G single nucleotide variant not provided [RCV001691116] Chr17:44257582 [GRCh38]
Chr17:42334950 [GRCh37]
Chr17:17q21.31		 benign
NM_000342.4(SLC4A1):c.106+242C>T single nucleotide variant not provided [RCV001564318] Chr17:44262394 [GRCh38]
Chr17:42339762 [GRCh37]
Chr17:17q21.31		 likely benign
NM_000342.4(SLC4A1):c.297C>T (p.Leu99=) single nucleotide variant BLOOD GROUP--SWANN SYSTEM [RCV002479061]|SLC4A1-related disorder [RCV004551813]|not provided [RCV000914942] Chr17:44260687 [GRCh38]
Chr17:42338055 [GRCh37]
Chr17:17q21.31		 likely benign
NM_000342.4(SLC4A1):c.1522G>A (p.Glu508Lys) single nucleotide variant not provided [RCV000883455] Chr17:44257454 [GRCh38]
Chr17:42334822 [GRCh37]
Chr17:17q21.31		 likely benign|conflicting interpretations of pathogenicity
NM_000342.4(SLC4A1):c.1239C>T (p.Tyr413=) single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV001123485]|Hemolytic anemia [RCV001123484]|Hereditary spherocytosis type 4 [RCV001123483]|not provided [RCV000905785] Chr17:44258029 [GRCh38]
Chr17:42335397 [GRCh37]
Chr17:17q21.31		 benign
NM_000342.4(SLC4A1):c.92T>C (p.Met31Thr) single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV001122077]|Hemolytic anemia [RCV001122076]|Hereditary spherocytosis type 4 [RCV001122075]|not provided [RCV000903910] Chr17:44262650 [GRCh38]
Chr17:42340018 [GRCh37]
Chr17:17q21.31		 benign|likely benign
NM_000342.4(SLC4A1):c.1610dup (p.Ser538fs) duplication Hereditary spherocytosis type 4 [RCV002291023]|not provided [RCV003738159] Chr17:44257365..44257366 [GRCh38]
Chr17:42334733..42334734 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_000342.4(SLC4A1):c.2482-7C>T single nucleotide variant BLOOD GROUP--SWANN SYSTEM [RCV002479083]|SLC4A1-related disorder [RCV004553364]|not provided [RCV000938840] Chr17:44251339 [GRCh38]
Chr17:42328707 [GRCh37]
Chr17:17q21.31		 benign|likely benign
NM_000342.4(SLC4A1):c.337G>A (p.Val113Ile) single nucleotide variant not provided [RCV000883456] Chr17:44260647 [GRCh38]
Chr17:42338015 [GRCh37]
Chr17:17q21.31		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000342.4(SLC4A1):c.2284A>C (p.Ser762Arg) single nucleotide variant not provided [RCV002284339] Chr17:44253145 [GRCh38]
Chr17:42330513 [GRCh37]
Chr17:17q21.31		 likely pathogenic
NM_000342.4(SLC4A1):c.556C>T (p.Gln186Ter) single nucleotide variant not provided [RCV002284342] Chr17:44259862 [GRCh38]
Chr17:42337230 [GRCh37]
Chr17:17q21.31		 likely pathogenic
NM_000342.4(SLC4A1):c.1552C>T (p.Arg518Cys) single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV001029999] Chr17:44257424 [GRCh38]
Chr17:42334792 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_000342.4(SLC4A1):c.2278C>T (p.Arg760Trp) single nucleotide variant Hereditary spherocytosis type 4 [RCV000989925]|SLC4A1-related disorder [RCV004740527]|not provided [RCV002227236] Chr17:44253151 [GRCh38]
Chr17:42330519 [GRCh37]
Chr17:17q21.31		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000342.4(SLC4A1):c.12G>A (p.Leu4=) single nucleotide variant BLOOD GROUP--SWANN SYSTEM [RCV002505446]|SLC4A1-related disorder [RCV004553444]|not provided [RCV000961491] Chr17:44262855 [GRCh38]
Chr17:42340223 [GRCh37]
Chr17:17q21.31		 benign|likely benign
NM_000342.4(SLC4A1):c.911G>A (p.Arg304Gln) single nucleotide variant not provided [RCV001222717] Chr17:44258589 [GRCh38]
Chr17:42335957 [GRCh37]
Chr17:17q21.31		 likely benign|uncertain significance
NM_000342.4(SLC4A1):c.2494C>A (p.Arg832Ser) single nucleotide variant not provided [RCV001223955] Chr17:44251320 [GRCh38]
Chr17:42328688 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_000342.4(SLC4A1):c.454G>A (p.Glu152Lys) single nucleotide variant BLOOD GROUP--SWANN SYSTEM [RCV002504253]|Inborn genetic diseases [RCV004033872]|not provided [RCV001213064] Chr17:44260435 [GRCh38]
Chr17:42337803 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_000342.4(SLC4A1):c.32T>G (p.Met11Arg) single nucleotide variant not provided [RCV001211036] Chr17:44262710 [GRCh38]
Chr17:42340078 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_000342.4(SLC4A1):c.826A>G (p.Ile276Val) single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV001127672]|Hemolytic anemia [RCV001127671]|Hereditary spherocytosis type 4 [RCV001127670]|not provided [RCV001241221] Chr17:44259213 [GRCh38]
Chr17:42336581 [GRCh37]
Chr17:17q21.31		 likely benign|uncertain significance
NM_000342.4(SLC4A1):c.486-10C>T single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV001127766]|Hemolytic anemia [RCV001127767]|Hereditary spherocytosis type 4 [RCV001127765] Chr17:44259942 [GRCh38]
Chr17:42337310 [GRCh37]
Chr17:17q21.31		 benign|uncertain significance
NM_000342.4(SLC4A1):c.1971C>T (p.Ser657=) single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV001127474]|Hemolytic anemia [RCV001125392]|Hereditary spherocytosis type 4 [RCV001125393] Chr17:44254582 [GRCh38]
Chr17:42331950 [GRCh37]
Chr17:17q21.31		 benign|uncertain significance
NM_000342.4(SLC4A1):c.*1047T>C single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV001123971]|Hemolytic anemia [RCV001123969]|Hereditary spherocytosis type 4 [RCV001123970] Chr17:44249411 [GRCh38]
Chr17:42326779 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_000342.4(SLC4A1):c.*1032C>T single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV001123972]|Hemolytic anemia [RCV001126644]|Hereditary spherocytosis type 4 [RCV001126643] Chr17:44249426 [GRCh38]
Chr17:42326794 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_000342.4(SLC4A1):c.*624G>A single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV001126738]|Hemolytic anemia [RCV001126737]|Hereditary spherocytosis type 4 [RCV001126739] Chr17:44249834 [GRCh38]
Chr17:42327202 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_000342.4(SLC4A1):c.431A>G (p.Gln144Arg) single nucleotide variant Inborn genetic diseases [RCV003250150] Chr17:44260458 [GRCh38]
Chr17:42337826 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_000342.4(SLC4A1):c.168+60C>T single nucleotide variant not provided [RCV001572186] Chr17:44261515 [GRCh38]
Chr17:42338883 [GRCh37]
Chr17:17q21.31		 likely benign
NM_000342.4(SLC4A1):c.168+163del deletion not provided [RCV001566295] Chr17:44261412 [GRCh38]
Chr17:42338780 [GRCh37]
Chr17:17q21.31		 likely benign
NM_000342.4(SLC4A1):c.107-420G>A single nucleotide variant not provided [RCV001708415] Chr17:44262056 [GRCh38]
Chr17:42339424 [GRCh37]
Chr17:17q21.31		 benign
NM_000342.4(SLC4A1):c.1626+66T>C single nucleotide variant not provided [RCV001560240] Chr17:44257284 [GRCh38]
Chr17:42334652 [GRCh37]
Chr17:17q21.31		 likely benign
NM_000342.4(SLC4A1):c.2269A>T (p.Lys757Ter) single nucleotide variant Hereditary spherocytosis type 4 [RCV001534595] Chr17:44253160 [GRCh38]
Chr17:42330528 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_000342.4(SLC4A1):c.2312G>T (p.Gly771Val) single nucleotide variant BLOOD GROUP--SWANN SYSTEM [RCV004796408]|Hereditary spherocytosis type 4 [RCV001534596] Chr17:44251588 [GRCh38]
Chr17:42328956 [GRCh37]
Chr17:17q21.31		 likely pathogenic|uncertain significance
NM_000342.4(SLC4A1):c.1530C>G (p.Ser510Arg) single nucleotide variant Hereditary spherocytosis type 4 [RCV001534597] Chr17:44257446 [GRCh38]
Chr17:42334814 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_000342.4(SLC4A1):c.349+27C>T single nucleotide variant not provided [RCV001534821] Chr17:44260608 [GRCh38]
Chr17:42337976 [GRCh37]
Chr17:17q21.31		 benign
NM_000342.4(SLC4A1):c.169-311G>A single nucleotide variant not provided [RCV001690932] Chr17:44261126 [GRCh38]
Chr17:42338494 [GRCh37]
Chr17:17q21.31		 benign
NM_000342.4(SLC4A1):c.2312-143_2312-142insC insertion not provided [RCV001669967] Chr17:44251730..44251731 [GRCh38]
Chr17:42329098..42329099 [GRCh37]
Chr17:17q21.31		 benign
NM_000342.4(SLC4A1):c.107-117dup duplication not provided [RCV001541846] Chr17:44261750..44261751 [GRCh38]
Chr17:42339118..42339119 [GRCh37]
Chr17:17q21.31		 benign
NM_000342.4(SLC4A1):c.106+259G>A single nucleotide variant not provided [RCV001666051] Chr17:44262377 [GRCh38]
Chr17:42339745 [GRCh37]
Chr17:17q21.31		 benign
NM_000342.4(SLC4A1):c.2184C>T (p.Thr728=) single nucleotide variant not provided [RCV000883103] Chr17:44253245 [GRCh38]
Chr17:42330613 [GRCh37]
Chr17:17q21.31		 likely benign
NM_000342.4(SLC4A1):c.510G>A (p.Leu170=) single nucleotide variant SLC4A1-related disorder [RCV004551882]|not provided [RCV000931639] Chr17:44259908 [GRCh38]
Chr17:42337276 [GRCh37]
Chr17:17q21.31		 likely benign
NM_000342.4(SLC4A1):c.798T>C (p.Phe266=) single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV001127675]|BLOOD GROUP--SWANN SYSTEM [RCV002501440]|Hemolytic anemia [RCV001127674]|Hereditary spherocytosis type 4 [RCV001127673]|not provided [RCV000888024] Chr17:44259241 [GRCh38]
Chr17:42336609 [GRCh37]
Chr17:17q21.31		 benign|likely benign
NM_000342.4(SLC4A1):c.1785C>T (p.Ser595=) single nucleotide variant not provided [RCV000930428] Chr17:44255688 [GRCh38]
Chr17:42333056 [GRCh37]
Chr17:17q21.31		 likely benign
NM_000342.4(SLC4A1):c.2055C>T (p.Thr685=) single nucleotide variant not provided [RCV000923318] Chr17:44254498 [GRCh38]
Chr17:42331866 [GRCh37]
Chr17:17q21.31		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000342.4(SLC4A1):c.486-9G>A single nucleotide variant not provided [RCV000914814] Chr17:44259941 [GRCh38]
Chr17:42337309 [GRCh37]
Chr17:17q21.31		 likely benign
NM_000342.4(SLC4A1):c.2100C>T (p.Ser700=) single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV001124395]|Hemolytic anemia [RCV001124396]|Hereditary spherocytosis type 4 [RCV001124394]|not provided [RCV000887507] Chr17:44253329 [GRCh38]
Chr17:42330697 [GRCh37]
Chr17:17q21.31		 benign|likely benign
NM_000342.4(SLC4A1):c.1692G>A (p.Gln564=) single nucleotide variant SLC4A1-related disorder [RCV004553365]|not provided [RCV000938841] Chr17:44255781 [GRCh38]
Chr17:42333149 [GRCh37]
Chr17:17q21.31		 benign|likely benign
NM_000342.4(SLC4A1):c.*1792G>A single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV001126439]|Hemolytic anemia [RCV001128491]|Hereditary spherocytosis type 4 [RCV001126440] Chr17:44248666 [GRCh38]
Chr17:42326034 [GRCh37]
Chr17:17q21.31		 benign|likely benign
NM_000342.4(SLC4A1):c.*1409T>C single nucleotide variant Autosomal dominant distal renal tubular acidosis [RCV001126532]|Hemolytic anemia [RCV001126531]|Hereditary spherocytosis type 4 [