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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Disease Browser
Parent Node: Diarrhea (D003967)
Parent Node: Metabolism, Inborn Errors (D008661)
..Starting node ..Congenital chloride diarrhea (C536210)
Child Nodes:
Sister Nodes:
..3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency (C567784)
..3-Hydroxyacyl-CoA Dehydrogenase Deficiency (C535310)
..3-Methylglutaconic Aciduria (C579867)
..3-Methylglutaconic Aciduria Type IV (C565393)
..3-Methylglutaconic Aciduria, Type I (C562801)
..3-Methylglutaconic Aciduria, Type V (C565706)
..5-Nucleotidase syndrome (C535321)
..6-Phosphogluconolactonase Deficiency (C566803)
..Acetylcarnitine deficiency (C536006)
..Acholinesterasemia (C566750)
..Acid Phosphatase Deficiency (C562645)
..Adenine phosphoribosyltransferase deficiency (C538228)
..AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY (OMIM:608688)
..alpha-Fetoprotein Deficiency (C566300)
..Amino Acid Metabolism, Inborn Errors (D000592) 169
..Amino Acid Transport Disorders, Inborn (D020157) 3
..Amobarbital, Deficient N-Hydroxylation of (C565959)
..Amyloidosis, Familial (D028226) 13
..Arene Oxide Detoxification Defect (C565043)
..Aromatase deficiency (C537436)
..Aryl Hydrocarbon Hydroxylase Inducibility (C566250)
..BISPHOSPHOGLYCERATE MUTASE DEFICIENCY (OMIM:222800)
..Brain Diseases, Metabolic, Inborn (D020739) 218
..Butyrylcholinesterase deficiency (C537417)
..Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type (C566751)
..Carbohydrate Metabolism, Inborn Errors (D002239) 169
..Carnitine Acetyltransferase Deficiency (C563249)
..Carnitine palmitoyl transferase 2 deficiency (C535589)
..Chromate Resistance (C566125)
..COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
..Combined Malonic and Methylmalonic Aciduria (C580002)
..Combined Oxidative Phosphorylation Deficiency 1 (C563797)
..Combined Oxidative Phosphorylation Deficiency 4 (C565690)
..Combined Oxidative Phosphorylation Deficiency 5 (C567126)
..Congenital chloride diarrhea (C536210)
..Copper deficiency, familial benign (C535468)
..Costeff optic atrophy syndrome (C535311)
..Coumarin Resistance (C563039)
..Coumarin Sensitivity (C567276)
..CREATINE PHOSPHOKINASE, ELEVATED SERUM (OMIM:123320)
..Cytochrome-c Oxidase Deficiency (D030401) 2
..Deafness hyperuricemia neurologic ataxia (C535995)
..Deoxyribose-5-Phosphate Aldolase Deficiency (C565112)
..Diarrhea 3, Secretory Sodium, Congenital (C562576)
..Diarrhea 3, Secretory Sodium, Congenital, Syndromic (C567490)
..Diarrhea, Glucose-Stimulated Secretory, with Common Variable Immunodeficiency (C565099)
..Dihydropyrimidinase Deficiency (C562815)
..Diphenylhydantoin, Defect in Hydroxylation of (C565044)
..Drug Metabolism, Poor, CYP2C19-Related (C563703)
..Drug Metabolism, Poor, CYP2D6-Related (C563835)
..Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency (C562657)
..Enterokinase Deficiency (C562649)
..Ethanolaminosis (C562651)
..Familial gynecomastia, due to increased aromatase activity (C000591739)
..Finnish lethal neonatal metabolic syndrome (C537934)
..Fumaric aciduria (C538191)
..Glucocorticoid Receptor Deficiency (C564221)
..Glutamate formiminotransferase deficiency (C537425)
..Glycoprotein Storage Disease (C565538)
..Glyoxalase II Deficiency (C564215)
..Growth Factors, Combined Defect of (C565529)
..HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY (OMIM:613470)
..HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY (OMIM:235700)
..Hyaluronan Metabolism, Defect in (C565742)
..Hyperbilirubinemia, Hereditary (D006933) 7
..Hypercalcemia, Idiopathic, of Infancy (C562581)
..HYPERCHLORHIDROSIS, ISOLATED (OMIM:143860)
..Hypoadiponectinemia (C567258)
..Hypokalemia, Familial (C562654)
..Hypoproteinemia, Hypercatabolic (C565476)
..Inosine Triphosphatase Deficiency (C564127)
..Intrinsic Factor and R Binder, Combined Congenital Deficiency of (C565461)
..Kallikrein, Decreased Urinary Activity of (C563653)
..L-Gulonolactone Oxidase, Nonfunctional (C565486)
..Lactate Dehydrogenase B Deficiency (C563641)
..Lactic Aciduria due to D-Lactic Acid (C565446)
..Leukotriene C4 Synthase Deficiency (C565439)
..Lipid Metabolism, Inborn Errors (D008052) 135
..LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:609016)
..Lysosomal Storage Diseases (D016464) 106
..Malonic aciduria (C535702)
..Mannose 6-Phosphate Receptor Recognition Defect, Lebanese Type (C563601)
..Mannose-Binding Protein Deficiency (C563602)
..Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency (C566566)
..Metal Metabolism, Inborn Errors (D008664) 55
..Methemoglobin Reductase Deficiency (C563171)
..Methylcobalamin Deficiency, CblG Type (C565394)
..Methylmalonyl-Coenzyme A mutase deficiency (C537573)
..Mitochondrial Complex II Deficiency (C565375)
..Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive (C567624)
..Myeloperoxidase Deficiency (C562864)
..N acetyltransferase deficiency (C536107)
..Pancreatic Insufficiency, Combined Exocrine (C564907)
..Peroxisomal Disorders (D018901) 39
..Phenacetin O-Deethylase, Deficiency of (C565127)
..Phenol sulfotransferase deficiency (C537895)
..Phosphoglycerate Kinase 1 Deficiency (C567067)
..Porphyrias (D011164) 18
..Progeria (D011371) 11
..Proguanil, Poor Metabolism of (C563704)
..Purine-Pyrimidine Metabolism, Inborn Errors (D011686) 24
..Renal Tubular Transport, Inborn Errors (D015499) 76
..Retinol-Binding Protein Deficiency (C566711)
..Steroid Metabolism, Inborn Errors (D043202) 34
..Stomatocytosis I (C566111)
..Stomatocytosis II (C566110)
..Succinic Acidemia (C563952)
..THYROTROPIN-RELEASING HORMONE DEFICIENCY (OMIM:275120)
..Transcobalamin I Deficiency (C562798)
..Trimethylaminuria (C536561)
..Warfarin Sensitivity (C567080)
..Weinstein Kliman Scully syndrome (C536688)
..Wiedemann Oldigs Oppermann syndrome (C536705)
..Xanthinuria, Type I (C562584)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

2603

Name:

Congenital chloride diarrhea

Definition:

Alternative IDs:

OMIM:214700

ParentIDs:

MESH:D003967|MESH:D008661

TreeNumbers:

C16.320.565/C536210 |C18.452.648/C536210 |C23.888.821.214/C536210

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Metabolic disease|Signs and symptoms

Reference:

MedGen: C536210
MeSH: C536210
OMIM: 214700;

Genes: SLC26A3;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003270	Abdominal distention
3	HP:0001626	Abnormality of the cardiovascular system
4	HP:0001948	Alkalosis
5	HP:0001944	Dehydration
6	HP:0002014	Diarrhea
7	HP:0001508	Failure to thrive
8	HP:0001507	Growth abnormality
9	HP:0001510	Growth delay
10	HP:0000841	Hyperactive renin-angiotensin system
11	HP:0000859	Hyperaldosteronism
12	HP:0003113	Hypochloremia
13	HP:0002900	Hypokalemia
14	HP:0002902	Hyponatremia
15	HP:0200114	Metabolic alkalosis
16	HP:0001561	Polyhydramnios
17	HP:0001622	Premature birth

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000111.2(SLC26A3):c.2205+3A>G	1811	SLC26A3	Likely pathogenic	386833475	RCV000049402;	N	MedGen:C0267662,OMIM:214700,ORPHA:53689,SNOMED CT:24412005	7	107408208	107408208	NM_000111.2:c.2205+3A>G		NC_000007.13:g.107408208T>C	-	C0267662 214700 Congenital secretory diarrhea, chloride type
NM_000111.2(SLC26A3):c.2132T>G (p.Leu711Ter)	1811	SLC26A3	Likely pathogenic	386833474	RCV000049401;	N	MedGen:C0267662,OMIM:214700,ORPHA:53689,SNOMED CT:24412005	7	107408284	107408284	NM_000111.2:c.2132T>G	NP_000102.1:p.Leu711Ter	NC_000007.13:g.107408284A>C	-	C0267662 214700 Congenital secretory diarrhea, chloride type
NM_000111.2(SLC26A3):c.2116delA (p.Ser706Alafs)	1811	SLC26A3	Likely pathogenic	386833473	RCV000049400;	N	MedGen:C0267662,OMIM:214700,ORPHA:53689,SNOMED CT:24412005	7	107408300	107408300	NM_000111.2:c.2116delA	NP_000102.1:p.Ser706Alafs	NC_000007.13:g.107408300delT	-	C0267662 214700 Congenital secretory diarrhea, chloride type
NM_000111.2(SLC26A3):c.2104_2105delGGinsACCGGTTTTGAAGTGAAAATTCAAAATTT (p.Gly702delinsThrGlyPheGluVal	1811	SLC26A3	Likely pathogenic	386833472	RCV000049399;	N	MedGen:C0267662,OMIM:214700,ORPHA:53689,SNOMED CT:24412005	7	107408311	107408312	NM_000111.2:c.2104_2105delGGinsACCGGTTTTGAAGTGAAAATTCAAAATTT	NP_000102.1:p.Gly702delinsThrGlyPheGluValLysIleGlnAsnPhe	NC_000007.13:g.107408311_107408312delCCinsAAATTTTGAATTTTCACTTCAAAACCGGT	-	C0267662 214700 Congenital secretory diarrhea, chloride type
NM_000111.2(SLC26A3):c.2063-1G>T	1811	SLC26A3	Likely pathogenic	386833471	RCV000049398;	N	MedGen:C0267662,OMIM:214700,ORPHA:53689,SNOMED CT:24412005	7	107408354	107408354	NM_000111.2:c.2063-1G>T		NC_000007.13:g.107408354C>A	-	C0267662 214700 Congenital secretory diarrhea, chloride type
NM_000111.2(SLC26A3):c.2024_2026dupTCA (p.Ile675_Arg676insIle)	1811	SLC26A3	Likely pathogenic;Pathogenic	121913031	RCV000049397;	N	MedGen:C0267662,OMIM:214700,ORPHA:53689,SNOMED CT:24412005	7	107412535	107412537	NM_000111.2:c.2024_2026dupTCA	NP_000102.1:p.Ile675_Arg676insIle	NC_000007.13:g.107412535_107412537dupTGA	OMIM Allelic Variant:126650.0005	C0267662 214700 Congenital secretory diarrhea, chloride type
NM_000111.2(SLC26A3):c.1990delG (p.Val664Terfs)	1811	SLC26A3	Likely pathogenic	386833469	RCV000049396;	N	MedGen:C0267662,OMIM:214700,ORPHA:53689,SNOMED CT:24412005	7	107414382	107414382	NM_000111.2:c.1990delG	NP_000102.1:p.Val664Terfs	NC_000007.13:g.107414382delC	-	C0267662 214700 Congenital secretory diarrhea, chloride type
NM_000111.2(SLC26A3):c.1631T>A (p.Ile544Asn)	1811	SLC26A3	Likely pathogenic	386833467	RCV000049394;	N	MedGen:C0267662,OMIM:214700,ORPHA:53689,SNOMED CT:24412005	7	107416943	107416943	NM_000111.2:c.1631T>A	NP_000102.1:p.Ile544Asn	NC_000007.13:g.107416943A>T	-	C0267662 214700 Congenital secretory diarrhea, chloride type
NM_000111.2(SLC26A3):c.1624_1626delTCTinsC (p.Ser542Profs)	1811	SLC26A3	Likely pathogenic	386833466	RCV000049393;	N	MedGen:C0267662,OMIM:214700,ORPHA:53689,SNOMED CT:24412005	7	107416948	107416950	NM_000111.2:c.1624_1626delTCTinsC	NP_000102.1:p.Ser542Profs	NC_000007.13:g.107416948_107416950delAGAinsG	-	C0267662 214700 Congenital secretory diarrhea, chloride type
NM_000111.2(SLC26A3):c.1609delA (p.Ile537Phefs)	1811	SLC26A3	Likely pathogenic	386833465	RCV000049392;	N	MedGen:C0267662,OMIM:214700,ORPHA:53689,SNOMED CT:24412005	7	107416965	107416965	NM_000111.2:c.1609delA	NP_000102.1:p.Ile537Phefs	NC_000007.13:g.107416965delT	-	C0267662 214700 Congenital secretory diarrhea, chloride type
NM_000111.2(SLC26A3):c.1579_1581delTAT (p.Tyr527del)	1811	SLC26A3	Likely pathogenic	386833464	RCV000049391;	N	MedGen:C0267662,OMIM:214700,ORPHA:53689,SNOMED CT:24412005	7	107417085	107417087	NM_000111.2:c.1579_1581delTAT	NP_000102.1:p.Tyr527del	NC_000007.13:g.107417085_107417087delATA	-	C0267662 214700 Congenital secretory diarrhea, chloride type
NM_000111.2(SLC26A3):c.1563G>C (p.Lys521Asn)	1811	SLC26A3	Likely pathogenic	386833463	RCV000049390;	N	MedGen:C0267662,OMIM:214700,ORPHA:53689,SNOMED CT:24412005	7	107417103	107417103	NM_000111.2:c.1563G>C	NP_000102.1:p.Lys521Asn	NC_000007.13:g.107417103C>G	-	C0267662 214700 Congenital secretory diarrhea, chloride type
NM_000111.2(SLC26A3):c.1559A>G (p.Tyr520Cys)	1811	SLC26A3	Likely pathogenic	386833462	RCV000049389;	N	MedGen:C0267662,OMIM:214700,ORPHA:53689,SNOMED CT:24412005	7	107417107	107417107	NM_000111.2:c.1559A>G	NP_000102.1:p.Tyr520Cys	NC_000007.13:g.107417107T>C	-	C0267662 214700 Congenital secretory diarrhea, chloride type
NM_000111.2(SLC26A3):c.1551_1554delCAAC (p.Asn518Serfs)	1811	SLC26A3	Likely pathogenic	386833461	RCV000049388;	N	MedGen:C0267662,OMIM:214700,ORPHA:53689,SNOMED CT:24412005	7	107417112	107417115	NM_000111.2:c.1551_1554delCAAC	NP_000102.1:p.Asn518Serfs	NC_000007.13:g.107417112_107417115delGTTG	-	C0267662 214700 Congenital secretory diarrhea, chloride type
NM_000111.2(SLC26A3):c.1526_1527delGC (p.Ser509Asnfs)	1811	SLC26A3	Likely pathogenic	386833460	RCV000049387;	N	MedGen:C0267662,OMIM:214700,ORPHA:53689,SNOMED CT:24412005	7	107417139	107417140	NM_000111.2:c.1526_1527delGC	NP_000102.1:p.Ser509Asnfs	NC_000007.13:g.107417139_107417140delGC	-	C0267662 214700 Congenital secretory diarrhea, chloride type
NM_000111.2(SLC26A3):c.1517delC (p.Pro506Glnfs)	1811	SLC26A3	Likely pathogenic	386833459	RCV000049386;	N	MedGen:C0267662,OMIM:214700,ORPHA:53689,SNOMED CT:24412005	7	107417149	107417149	NM_000111.2:c.1517delC	NP_000102.1:p.Pro506Glnfs	NC_000007.13:g.107417149delG	-	C0267662 214700 Congenital secretory diarrhea, chloride type
NM_000111.2(SLC26A3):c.1515-2delA	1811	SLC26A3	Likely pathogenic	386833458	RCV000049385;	N	MedGen:C0267662,OMIM:214700,ORPHA:53689,SNOMED CT:24412005	7	107417153	107417153	NM_000111.2:c.1515-2delA		NC_000007.13:g.107417153delT	-	C0267662 214700 Congenital secretory diarrhea, chloride type
NM_000111.2(SLC26A3):c.1487T>G (p.Leu496Arg)	1811	SLC26A3	Likely pathogenic	386833457	RCV000049384;	N	MedGen:C0267662,OMIM:214700,ORPHA:53689,SNOMED CT:24412005	7	107418647	107418647	NM_000111.2:c.1487T>G	NP_000102.1:p.Leu496Arg	NC_000007.13:g.107418647A>C	-	C0267662 214700 Congenital secretory diarrhea, chloride type
NM_000111.2(SLC26A3):c.1408-1G>A	1811	SLC26A3	Likely pathogenic	386833455	RCV000049382;	N	MedGen:C0267662,OMIM:214700,ORPHA:53689,SNOMED CT:24412005	7	107418727	107418727	NM_000111.2:c.1408-1G>A		NC_000007.13:g.107418727C>T	-	C0267662 214700 Congenital secretory diarrhea, chloride type
NM_000111.2(SLC26A3):c.1403A>T (p.Asp468Val)	1811	SLC26A3	Likely pathogenic	386833454	RCV000049381;	N	MedGen:C0267662,OMIM:214700,ORPHA:53689,SNOMED CT:24412005	7	107420117	107420117	NM_000111.2:c.1403A>T	NP_000102.1:p.Asp468Val	NC_000007.13:g.107420117T>A	-	C0267662 214700 Congenital secretory diarrhea, chloride type
NM_000111.2(SLC26A3):c.1387C>T (p.Arg463Ter)	1811	SLC26A3	Likely pathogenic	386833453	RCV000049380;	N	MedGen:C0267662,OMIM:214700,ORPHA:53689,SNOMED CT:24412005	7	107420133	107420133	NM_000111.2:c.1387C>T	NP_000102.1:p.Arg463Ter	NC_000007.13:g.107420133G>A	-	C0267662 214700 Congenital secretory diarrhea, chloride type
NM_000111.2(SLC26A3):c.1386G>A (p.Trp462Ter)	1811	SLC26A3	Pathogenic	121913033	RCV000018246;	N	MedGen:C0267662,OMIM:214700,ORPHA:53689,SNOMED CT:24412005	7	107420134	107420134	NM_000111.2:c.1386G>A	NP_000102.1:p.Trp462Ter	NC_000007.13:g.107420134C>T	OMIM Allelic Variant:126650.0008	C0267662 214700 Congenital secretory diarrhea, chloride type
NM_000111.2(SLC26A3):c.1362delG (p.Gln454Hisfs)	1811	SLC26A3	Likely pathogenic	386833452	RCV000049379;	N	MedGen:C0267662,OMIM:214700,ORPHA:53689,SNOMED CT:24412005	7	107420158	107420158	NM_000111.2:c.1362delG	NP_000102.1:p.Gln454Hisfs	NC_000007.13:g.107420158delC	-	C0267662 214700 Congenital secretory diarrhea, chloride type
NM_000111.2(SLC26A3):c.1360C>T (p.Gln454Ter)	1811	SLC26A3	Likely pathogenic	386833451	RCV000049378;	N	MedGen:C0267662,OMIM:214700,ORPHA:53689,SNOMED CT:24412005	7	107420160	107420160	NM_000111.2:c.1360C>T	NP_000102.1:p.Gln454Ter	NC_000007.13:g.107420160G>A	-	C0267662 214700 Congenital secretory diarrhea, chloride type
NM_000111.2(SLC26A3):c.1342_1343delTT (p.Leu448Lysfs)	1811	SLC26A3	Likely pathogenic	386833450	RCV000049377;	N	MedGen:C0267662,OMIM:214700,ORPHA:53689,SNOMED CT:24412005	7	107420177	107420178	NM_000111.2:c.1342_1343delTT	NP_000102.1:p.Leu448Lysfs	NC_000007.13:g.107420177_107420178delAA	-	C0267662 214700 Congenital secretory diarrhea, chloride type
NM_000111.2(SLC26A3):c.1312-1G>A	1811	SLC26A3	Likely pathogenic	386833449	RCV000049376;	N	MedGen:C0267662,OMIM:214700,ORPHA:53689,SNOMED CT:24412005	7	107420209	107420209	NM_000111.2:c.1312-1G>A		NC_000007.13:g.107420209C>T	-	C0267662 214700 Congenital secretory diarrhea, chloride type
NM_000111.2(SLC26A3):c.1306C>T (p.Gln436Ter)	1811	SLC26A3	Likely pathogenic	386833448	RCV000049375;	N	MedGen:C0267662,OMIM:214700,ORPHA:53689,SNOMED CT:24412005	7	107423247	107423247	NM_000111.2:c.1306C>T	NP_000102.1:p.Gln436Ter	NC_000007.13:g.107423247G>A	-	C0267662 214700 Congenital secretory diarrhea, chloride type
NM_000111.2(SLC26A3):c.1148_1149delTA (p.Ile383Serfs)	1811	SLC26A3	Likely pathogenic	386833447	RCV000049374;	N	MedGen:C0267662,OMIM:214700,ORPHA:53689,SNOMED CT:24412005	7	107423509	107423510	NM_000111.2:c.1148_1149delTA	NP_000102.1:p.Ile383Serfs	NC_000007.13:g.107423509_107423510delTA	-	C0267662 214700 Congenital secretory diarrhea, chloride type
NM_000111.2(SLC26A3):c.1136G>C (p.Gly379Ala)	1811	SLC26A3	Likely pathogenic	386833446	RCV000049373;	N	MedGen:C0267662,OMIM:214700,ORPHA:53689,SNOMED CT:24412005	7	107423522	107423522	NM_000111.2:c.1136G>C	NP_000102.1:p.Gly379Ala	NC_000007.13:g.107423522C>G	-	C0267662 214700 Congenital secretory diarrhea, chloride type
NM_000111.2(SLC26A3):c.1030_1047del18insGATGCC (p.Phe344_Val349delinsAspAla)	1811	SLC26A3	Likely pathogenic	386833445	RCV000049372;	N	MedGen:C0267662,OMIM:214700,ORPHA:53689,SNOMED CT:24412005	7	107423722	107423739	NM_000111.2:c.1030_1047del18insGATGCC	NP_000102.1:p.Phe344_Val349delinsAspAla	NC_000007.13:g.107423722_107423739del18insGGCATC	-	C0267662 214700 Congenital secretory diarrhea, chloride type
NM_000111.2(SLC26A3):c.1028G>A (p.Cys343Tyr)	1811	SLC26A3	Likely pathogenic	386833444	RCV000049371;	N	MedGen:C0267662,OMIM:214700,ORPHA:53689,SNOMED CT:24412005	7	107423741	107423741	NM_000111.2:c.1028G>A	NP_000102.1:p.Cys343Tyr	NC_000007.13:g.107423741C>T	-	C0267662 214700 Congenital secretory diarrhea, chloride type
NM_000111.2(SLC26A3):c.951_953delGGT (p.Val318del)	1811	SLC26A3	Pathogenic	386833491	RCV000018239;	N	MedGen:C0267662,OMIM:214700,ORPHA:53689,SNOMED CT:24412005	7	107427290	107427292	NM_000111.2:c.951_953delGGT	NP_000102.1:p.Val318del	NC_000007.13:g.107427290_107427292delACC	OMIM Allelic Variant:126650.0001	C0267662 214700 Congenital secretory diarrhea, chloride type
NM_000111.2(SLC26A3):c.915C>A (p.Tyr305Ter)	1811	SLC26A3	Likely pathogenic	386833490	RCV000049418;	N	MedGen:C0267662,OMIM:214700,ORPHA:53689,SNOMED CT:24412005	7	107427328	107427328	NM_000111.2:c.915C>A	NP_000102.1:p.Tyr305Ter	NC_000007.13:g.107427328G>T	-	C0267662 214700 Congenital secretory diarrhea, chloride type
NM_000111.2(SLC26A3):c.659A>C (p.His220Pro)	1811	SLC26A3	Likely pathogenic	386833489	RCV000049417;	N	MedGen:C0267662,OMIM:214700,ORPHA:53689,SNOMED CT:24412005	7	107430045	107430045	NM_000111.2:c.659A>C	NP_000102.1:p.His220Pro	NC_000007.13:g.107430045T>G	-	C0267662 214700 Congenital secretory diarrhea, chloride type
NM_000111.2(SLC26A3):c.616T>C (p.Ser206Pro)	1811	SLC26A3	Likely pathogenic	386833488	RCV000049416;	N	MedGen:C0267662,OMIM:214700,ORPHA:53689,SNOMED CT:24412005	7	107430088	107430088	NM_000111.2:c.616T>C	NP_000102.1:p.Ser206Pro	NC_000007.13:g.107430088A>G	-	C0267662 214700 Congenital secretory diarrhea, chloride type
NM_000111.2(SLC26A3):c.610T>G (p.Tyr204Asp)	1811	SLC26A3	Likely pathogenic	386833487	RCV000049415;	N	MedGen:C0267662,OMIM:214700,ORPHA:53689,SNOMED CT:24412005	7	107430094	107430094	NM_000111.2:c.610T>G	NP_000102.1:p.Tyr204Asp	NC_000007.13:g.107430094A>C	-	C0267662 214700 Congenital secretory diarrhea, chloride type
NM_000111.2(SLC26A3):c.571-1G>T	1811	SLC26A3	Likely pathogenic	386833485	RCV000049413;	N	MedGen:C0267662,OMIM:214700,ORPHA:53689,SNOMED CT:24412005	7	107430134	107430134	NM_000111.2:c.571-1G>T		NC_000007.13:g.107430134C>A	-	C0267662 214700 Congenital secretory diarrhea, chloride type
NM_000111.2(SLC26A3):c.571-2A>G	1811	SLC26A3	Likely pathogenic	386833486	RCV000049414;	N	MedGen:C0267662,OMIM:214700,ORPHA:53689,SNOMED CT:24412005	7	107430135	107430135	NM_000111.2:c.571-2A>G		NC_000007.13:g.107430135T>C	-	C0267662 214700 Congenital secretory diarrhea, chloride type
NM_000111.2(SLC26A3):c.559G>T (p.Gly187Ter)	1811	SLC26A3	Pathogenic	121913032	RCV000018244;	N	MedGen:C0267662,OMIM:214700,ORPHA:53689,SNOMED CT:24412005	7	107431504	107431504	NM_000111.2:c.559G>T	NP_000102.1:p.Gly187Ter	NC_000007.13:g.107431504C>A	OMIM Allelic Variant:126650.0006	C0267662 214700 Congenital secretory diarrhea, chloride type
NM_000111.2(SLC26A3):c.525G>C (p.Arg175Ser)	1811	SLC26A3	Likely pathogenic	386833484	RCV000049412;	N	MedGen:C0267662,OMIM:214700,ORPHA:53689,SNOMED CT:24412005	7	107431538	107431538	NM_000111.2:c.525G>C	NP_000102.1:p.Arg175Ser	NC_000007.13:g.107431538C>G	-	C0267662 214700 Congenital secretory diarrhea, chloride type
NM_000111.2(SLC26A3):c.408G>A (p.Met136Ile)	1811	SLC26A3	Likely pathogenic	386833483	RCV000049411;	N	MedGen:C0267662,OMIM:214700,ORPHA:53689,SNOMED CT:24412005	7	107431655	107431655	NM_000111.2:c.408G>A	NP_000102.1:p.Met136Ile	NC_000007.13:g.107431655C>T	-	C0267662 214700 Congenital secretory diarrhea, chloride type
NM_000111.2(SLC26A3):c.392C>G (p.Pro131Arg)	1811	SLC26A3	Likely pathogenic	386833481	RCV000049408;	N	MedGen:C0267662,OMIM:214700,ORPHA:53689,SNOMED CT:24412005	7	107431671	107431671	NM_000111.2:c.392C>G	NP_000102.1:p.Pro131Arg	NC_000007.13:g.107431671G>A,NC_000007.13:g.107431671G>C	-	C0267662 214700 Congenital secretory diarrhea, chloride type
NM_000111.2(SLC26A3):c.392C>T (p.Pro131Leu)	1811	SLC26A3	Likely pathogenic	386833481	RCV000049409;	N	MedGen:C0267662,OMIM:214700,ORPHA:53689,SNOMED CT:24412005	7	107431671	107431671	NM_000111.2:c.392C>T	NP_000102.1:p.Pro131Leu	NC_000007.13:g.107431671G>A,NC_000007.13:g.107431671G>C	-	C0267662 214700 Congenital secretory diarrhea, chloride type
NM_000111.2(SLC26A3):c.392delC (p.Pro131Argfs)	1811	SLC26A3	Likely pathogenic	386833482	RCV000049410;	N	MedGen:C0267662,OMIM:214700,ORPHA:53689,SNOMED CT:24412005	7	107431671	107431671	NM_000111.2:c.392delC	NP_000102.1:p.Pro131Argfs	NC_000007.13:g.107431671delG	-	C0267662 214700 Congenital secretory diarrhea, chloride type
NM_000111.2(SLC26A3):c.386C>T (p.Pro129Leu)	1811	SLC26A3	Likely pathogenic	386833480	RCV000049407;	N	MedGen:C0267662,OMIM:214700,ORPHA:53689,SNOMED CT:24412005	7	107431677	107431677	NM_000111.2:c.386C>T	NP_000102.1:p.Pro129Leu	NC_000007.13:g.107431677G>A	-	C0267662 214700 Congenital secretory diarrhea, chloride type
NM_000111.2(SLC26A3):c.371A>T (p.His124Leu)	1811	SLC26A3	Pathogenic	121913030	RCV000018240;	N	MedGen:C0267662,OMIM:214700,ORPHA:53689,SNOMED CT:24412005	7	107432286	107432286	NM_000111.2:c.371A>T	NP_000102.1:p.His124Leu	NC_000007.13:g.107432286T>A	OMIM Allelic Variant:126650.0002	C0267662 214700 Congenital secretory diarrhea, chloride type
NM_000111.2(SLC26A3):c.358G>A (p.Gly120Ser)	1811	SLC26A3	Likely pathogenic	386833479	RCV000049406;	N	MedGen:C0267662,OMIM:214700,ORPHA:53689,SNOMED CT:24412005	7	107432299	107432299	NM_000111.2:c.358G>A	NP_000102.1:p.Gly120Ser	NC_000007.13:g.107432299C>T	-	C0267662 214700 Congenital secretory diarrhea, chloride type
NM_000111.2(SLC26A3):c.344delT (p.Ile115Thrfs)	1811	SLC26A3	Likely pathogenic	386833478	RCV000049405;	N	MedGen:C0267662,OMIM:214700,ORPHA:53689,SNOMED CT:24412005	7	107432313	107432313	NM_000111.2:c.344delT	NP_000102.1:p.Ile115Thrfs	NC_000007.13:g.107432313delA	-	C0267662 214700 Congenital secretory diarrhea, chloride type
NM_000111.2(SLC26A3):c.332delT (p.Phe111Serfs)	1811	SLC26A3	Likely pathogenic	386833477	RCV000049404;	N	MedGen:C0267662,OMIM:214700,ORPHA:53689,SNOMED CT:24412005	7	107432325	107432325	NM_000111.2:c.332delT	NP_000102.1:p.Phe111Serfs	NC_000007.13:g.107432325delA	-	C0267662 214700 Congenital secretory diarrhea, chloride type
NM_000111.2(SLC26A3):c.269_270dupAA (p.Gly91Lysfs)	1811	SLC26A3	Likely pathogenic	386833476	RCV000049403;	N	MedGen:C0267662,OMIM:214700,ORPHA:53689,SNOMED CT:24412005	7	107434188	107434189	NM_000111.2:c.269_270dupAA	NP_000102.1:p.Gly91Lysfs	NC_000007.13:g.107434188_107434189dupTT	-	C0267662 214700 Congenital secretory diarrhea, chloride type
NM_000111.2(SLC26A3):c.177dupC (p.Ile60Hisfs)	1811	SLC26A3	Likely pathogenic	386833468	RCV000049395;	N	MedGen:C0267662,OMIM:214700,ORPHA:53689,SNOMED CT:24412005	7	107434281	107434281	NM_000111.2:c.177dupC	NP_000102.1:p.Ile60Hisfs	NC_000007.13:g.107434281dupG	-	C0267662 214700 Congenital secretory diarrhea, chloride type
NM_000111.2(SLC26A3):c.145_157delAAGGCCAAGAGAA (p.Lys49Leufs)	1811	SLC26A3	Likely pathogenic	386833456	RCV000049383;	N	MedGen:C0267662,OMIM:214700,ORPHA:53689,SNOMED CT:24412005	7	107434301	107434313	NM_000111.2:c.145_157delAAGGCCAAGAGAA	NP_000102.1:p.Lys49Leufs	NC_000007.13:g.107434301_107434313delTTCTCTTGGCCTT	-	C0267662 214700 Congenital secretory diarrhea, chloride type