SLC5A1 — 538 ClinVar variants

All ClinVar germline SLC5A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 173 flagged for review →

19 Pathogenic · 3 Pathogenic/Likely pathogenic · 25 Likely pathogenic · 28 Conflicting · 33 Benign · 7 Benign/Likely benign · 197 Likely benign · 226 Uncertain significance

Full SLC5A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 173

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors agree, ClinVar conflicts 9

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

SLC5A1 p.Ala12Val Conflicting Single submitter
glucose-galactose malabsorption
SLC5A1 p.Arg336Cys Conflicting Single submitter
glucose-galactose malabsorption
SLC5A1 p.Gly616Ser Conflicting Single submitter
glucose-galactose malabsorption
SLC5A1 p.Ile588Thr Conflicting Single submitter
glucose-galactose malabsorption
SLC5A1 p.Leu288Val Conflicting Single submitter
Inborn genetic diseases
SLC5A1 p.Thr519Met Conflicting Single submitter
Inborn genetic diseases
SLC5A1 p.Trp477Cys Conflicting Single submitter
glucose-galactose malabsorption
SLC5A1 p.Val209Leu Conflicting Single submitter
glucose-galactose malabsorption
SLC5A1 p.Val33Ile Conflicting Single submitter
glucose-galactose malabsorption

Predictors lean, ClinVar uncertain 130

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

SLC5A1 p.Ala12Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SLC5A1 p.Ala198Val Uncertain significance Multiple submitters
glucose-galactose malabsorption
SLC5A1 p.Ala199Val Uncertain significance Multiple submitters
Inborn genetic diseases
SLC5A1 p.Ala468Glu Uncertain significance Multiple submitters
glucose-galactose malabsorption
SLC5A1 p.Ala61Val Uncertain significance Multiple submitters
glucose-galactose malabsorption
SLC5A1 p.Arg135Gln Uncertain significance Multiple submitters
glucose-galactose malabsorption
SLC5A1 p.Arg140Gln Uncertain significance Multiple submitters
glucose-galactose malabsorption
SLC5A1 p.Arg15Trp Uncertain significance Multiple submitters
Inborn genetic diseases
SLC5A1 p.Arg414His Uncertain significance Multiple submitters
glucose-galactose malabsorption
SLC5A1 p.Arg52Cys Uncertain significance Multiple submitters
glucose-galactose malabsorption
SLC5A1 p.Arg52His Uncertain significance Multiple submitters
glucose-galactose malabsorption
SLC5A1 p.Arg558Cys Uncertain significance Multiple submitters
glucose-galactose malabsorption
SLC5A1 p.Asn376Asp Uncertain significance Multiple submitters
Inborn genetic diseases
SLC5A1 p.Asn376Ser Uncertain significance Multiple submitters
glucose-galactose malabsorption
SLC5A1 p.Asn565Asp Uncertain significance Multiple submitters
glucose-galactose malabsorption
SLC5A1 p.Glu352Lys Uncertain significance Multiple submitters
glucose-galactose malabsorption
SLC5A1 p.Glu419Val Uncertain significance Multiple submitters
SLC5A1-related disorder
SLC5A1 p.Glu578Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SLC5A1 p.Glu622Asp Uncertain significance Multiple submitters
glucose-galactose malabsorption
SLC5A1 p.Gly313Asp Uncertain significance Multiple submitters
glucose-galactose malabsorption
SLC5A1 p.Gly426Arg Uncertain significance Multiple submitters
glucose-galactose malabsorption
SLC5A1 p.Ile34Thr Uncertain significance Multiple submitters
glucose-galactose malabsorption
SLC5A1 p.Ile434Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SLC5A1 p.Leu115Arg Uncertain significance Multiple submitters
glucose-galactose malabsorption
SLC5A1 p.Met233Val Uncertain significance Multiple submitters
Inborn genetic diseases
SLC5A1 p.Met374Val Uncertain significance Multiple submitters
glucose-galactose malabsorption
SLC5A1 p.Met65Thr Uncertain significance Multiple submitters
glucose-galactose malabsorption
SLC5A1 p.Pro241Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SLC5A1 p.Pro595Thr Uncertain significance Multiple submitters
glucose-galactose malabsorption
SLC5A1 p.Pro639Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SLC5A1 p.Ser164Leu Uncertain significance Multiple submitters
glucose-galactose malabsorption
SLC5A1 p.Thr257Ile Uncertain significance Multiple submitters
glucose-galactose malabsorption
SLC5A1 p.Trp103Gly Uncertain significance Multiple submitters
glucose-galactose malabsorption
SLC5A1 p.Val310Met Uncertain significance Multiple submitters
glucose-galactose malabsorption
SLC5A1 p.Val37Met Uncertain significance Multiple submitters
glucose-galactose malabsorption
SLC5A1 p.Ala160Pro Uncertain significance Single submitter
Inborn genetic diseases
SLC5A1 p.Ala231Thr Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Ala401Val Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Ala411Val Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Ala468Val Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Ala469Val Uncertain significance Single submitter
SLC5A1-related disorder
SLC5A1 p.Ala535Thr Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Ala575Glu Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Ala575Val Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Ala605Val Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Ala61Glu Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Ala92Thr Uncertain significance Single submitter
Inborn genetic diseases
SLC5A1 p.Arg15Gln Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Arg267Gln Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Arg300Cys Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Arg379Gln Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Arg414Cys Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Arg427Ser Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Asn170Ser Uncertain significance Single submitter
Inborn genetic diseases
SLC5A1 p.Asp161Asn Uncertain significance Single submitter
SLC5A1 p.Asp204Gly Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Asp28Gly Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Asp454Asn Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Gln457His Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Glu18Gly Uncertain significance Single submitter
Inborn genetic diseases
SLC5A1 p.Glu253Asp Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Glu419Gly Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Glu421Gln Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Glu568Gln Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Glu568Gly Uncertain significance Single submitter
Inborn genetic diseases
SLC5A1 p.Glu577Ala Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Glu582Ala Uncertain significance Single submitter
Inborn genetic diseases
SLC5A1 p.Glu582Lys Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Glu596Ala Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Gly356Cys Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Gly43Arg Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Gly464Arg Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Gly583Arg Uncertain significance Single submitter
Inborn genetic diseases
SLC5A1 p.Gly89Arg Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Ile154Thr Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Ile162Met Uncertain significance Single submitter
Inborn genetic diseases
SLC5A1 p.Ile187Val Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Ile280Thr Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Ile29Val Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Ile490Val Uncertain significance Single submitter
Inborn genetic diseases
SLC5A1 p.Ile571Val Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Ile580Val Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Ile601Val Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Ile96Val Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Ile98Thr Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Leu151Met Uncertain significance Single submitter
Inborn genetic diseases
SLC5A1 p.Leu556Pro Uncertain significance Single submitter
SLC5A1 p.Leu640Phe Uncertain significance Single submitter
Inborn genetic diseases
SLC5A1 p.Leu640Ser Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Lys254Glu Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Lys9Glu Uncertain significance Single submitter
Inborn genetic diseases
SLC5A1 p.Met237Leu Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Met307Val Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Met325Val Uncertain significance Single submitter
SLC5A1 p.Met386Val Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Met391Ile Uncertain significance Single submitter
Inborn genetic diseases
SLC5A1 p.Met391Leu Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Met512Ile Uncertain significance Single submitter
Inborn genetic diseases
SLC5A1 p.Met628Thr Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Met630Lys Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Phe116Tyr Uncertain significance Single submitter
Inborn genetic diseases
SLC5A1 p.Pro16Ala Uncertain significance Single submitter
Inborn genetic diseases
SLC5A1 p.Pro258Leu Uncertain significance Single submitter
Inborn genetic diseases
SLC5A1 p.Pro466Ser Uncertain significance Single submitter
SLC5A1 p.Pro584Leu Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Pro69Leu Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Ser146Phe Uncertain significance Single submitter
SLC5A1 p.Ser159Leu Uncertain significance Single submitter
Inborn genetic diseases
SLC5A1 p.Ser566Asn Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Ser73Phe Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Thr14Ile Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Thr14Ser Uncertain significance Single submitter
Inborn genetic diseases
SLC5A1 p.Thr203Met Uncertain significance Single submitter
Inborn genetic diseases
SLC5A1 p.Thr368Ala Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Thr403Ile Uncertain significance Single submitter
Inborn genetic diseases
SLC5A1 p.Thr540Ala Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Thr5Ile Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Thr633Met Uncertain significance Single submitter
Inborn genetic diseases
SLC5A1 p.Trp6Arg Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Tyr256Cys Uncertain significance Single submitter
Inborn genetic diseases
SLC5A1 p.Tyr319His Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Tyr366Cys Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Val109Leu Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Val126Met Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Val209Met Uncertain significance Single submitter
SLC5A1 p.Val359Ile Uncertain significance Single submitter
SLC5A1 p.Val524Met Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Val55Ala Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Val66Met Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Arg140Gly Uncertain significance No assertion criteria
SLC5A1-related disorder

Predictors split 34

The independent predictors disagree with each other — read with care.

SLC5A1 p.Ala41Thr Uncertain significance Multiple submitters
glucose-galactose malabsorption
SLC5A1 p.Ala439Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SLC5A1 p.Arg564His Uncertain significance Multiple submitters
glucose-galactose malabsorption
SLC5A1 p.Arg63Gln Uncertain significance Multiple submitters
Inborn genetic diseases
SLC5A1 p.Gly356Ser Uncertain significance Multiple submitters
glucose-galactose malabsorption
SLC5A1 p.Leu108Ser Uncertain significance Multiple submitters
glucose-galactose malabsorption
SLC5A1 p.Leu179Ser Uncertain significance Multiple submitters
glucose-galactose malabsorption
SLC5A1 p.Leu338Val Uncertain significance Multiple submitters
glucose-galactose malabsorption
SLC5A1 p.Met423Val Uncertain significance Multiple submitters
Inborn genetic diseases
SLC5A1 p.Pro639Ala Uncertain significance Multiple submitters
glucose-galactose malabsorption
SLC5A1 p.Thr548Ser Uncertain significance Multiple submitters
glucose-galactose malabsorption
SLC5A1 p.Ala344Ser Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Ala401Thr Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Ala447Thr Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Ala93Thr Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Arg558His Conflicting Single submitter
SLC5A1-related disorder
SLC5A1 p.Asn363Ser Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Asp261Asn Uncertain significance Single submitter
Inborn genetic diseases
SLC5A1 p.Gln445Arg Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Glu623Lys Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Gly435Ser Uncertain significance Single submitter
Inborn genetic diseases
SLC5A1 p.Gly53Glu Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Gly91Ala Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Ile141Met Uncertain significance Single submitter
Inborn genetic diseases
SLC5A1 p.Ile217Thr Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Ile343Thr Conflicting Single submitter
SLC5A1-related disorder
SLC5A1 p.Ile467Thr Conflicting Single submitter
glucose-galactose malabsorption
SLC5A1 p.Ile601Asn Uncertain significance Single submitter
Inborn genetic diseases
SLC5A1 p.Phe476Cys Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Pro639Thr Uncertain significance Single submitter
Inborn genetic diseases
SLC5A1 p.Thr194Ile Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Thr208Met Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Thr271Met Uncertain significance Single submitter
glucose-galactose malabsorption
SLC5A1 p.Val543Gly Uncertain significance Single submitter
glucose-galactose malabsorption

All SLC5A1 variants

Pathogenic 19

c.1666-2del Multiple submitters glucose-galactose malabsorption
p.Arg267Ter Multiple submitters SLC5A1-related disorder
p.Arg63Ter Multiple submitters glucose-galactose malabsorption
p.Cys255Trp Multiple submitters glucose-galactose malabsorption
p.Arg499Pro Single submitter glucose-galactose malabsorption
p.Asn565fs Single submitter glucose-galactose malabsorption
p.Cys292Tyr Single submitter glucose-galactose malabsorption
p.Cys355Ter Single submitter glucose-galactose malabsorption
p.Cys522fs Single submitter glucose-galactose malabsorption
p.Glu225Ter Single submitter glucose-galactose malabsorption
p.Leu463Ter Single submitter glucose-galactose malabsorption
p.Leu87fs Single submitter glucose-galactose malabsorption
p.Phe538_Ile539insPhePhePhePhePhePheXaaXaaXaaXaaSerArgSerProAspLeuValIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer Single submitter glucose-galactose malabsorption
p.Pro275fs Single submitter glucose-galactose malabsorption
p.Pro466fs Single submitter glucose-galactose malabsorption
p.Ser384Ter Single submitter glucose-galactose malabsorption
p.Trp289Ter Single submitter glucose-galactose malabsorption
p.Trp561Ter Single submitter glucose-galactose malabsorption
p.Tyr410Ter Single submitter glucose-galactose malabsorption

Pathogenic/Likely pathogenic 3

c.372+2_372+8delinsCTTATATTAAGG Multiple submitters glucose-galactose malabsorption
p.Asp28Asn Multiple submitters SLC5A1-related disorder
p.Gln457Arg Multiple submitters SLC5A1-related disorder

Likely pathogenic 25

p.Arg336His Multiple submitters glucose-galactose malabsorption
p.Ser159Pro Multiple submitters glucose-galactose malabsorption
p.Trp67Ter Multiple submitters SLC5A1-related disorder
c.1021+1G>A Single submitter glucose-galactose malabsorption
c.136-1G>A Single submitter glucose-galactose malabsorption
c.1772-1G>A Single submitter glucose-galactose malabsorption
c.205_207+2delinsAA Single submitter glucose-galactose malabsorption
c.207+2T>C Single submitter glucose-galactose malabsorption
c.372+1_372+2insCTTATAT Single submitter glucose-galactose malabsorption
c.665-2A>G Single submitter glucose-galactose malabsorption
c.885+1G>A Single submitter glucose-galactose malabsorption
p.Ala76fs Single submitter glucose-galactose malabsorption
p.Arg300His Single submitter glucose-galactose malabsorption
p.Arg499Cys Single submitter glucose-galactose malabsorption
p.Arg499His Single submitter glucose-galactose malabsorption
p.Cys355Ser Single submitter glucose-galactose malabsorption
p.Glu253Ter Single submitter glucose-galactose malabsorption
p.Gly318Arg Single submitter SLC5A1-related disorder
p.Leu185Ser Single submitter glucose-galactose malabsorption
p.Leu316Pro Single submitter glucose-galactose malabsorption
p.Met1Thr Single submitter glucose-galactose malabsorption
p.Met233fs Single submitter SLC5A1-related disorder
p.Trp477Ter Single submitter glucose-galactose malabsorption
p.Tyr256fs Single submitter Renal glycosuria
p.Tyr526Ter Single submitter SLC5A1-related disorder

Conflicting classifications of pathogenicity 28

c.1280+8C>G Single submitter glucose-galactose malabsorption
c.207+2dup Single submitter SLC5A1-related disorder
c.208-13T>A Single submitter glucose-galactose malabsorption
p.Ala12Val Single submitter glucose-galactose malabsorption ⚠
p.Ala468= Single submitter glucose-galactose malabsorption
p.Ala575= Single submitter glucose-galactose malabsorption
p.Arg336Cys Single submitter glucose-galactose malabsorption ⚠
p.Arg558His Single submitter SLC5A1-related disorder ⚠
p.Arg603= Single submitter glucose-galactose malabsorption
p.Asn376= Single submitter glucose-galactose malabsorption
p.Asp572= Single submitter glucose-galactose malabsorption
p.Glu589Ter Single submitter SLC5A1-related disorder
p.Gly616Ser Single submitter glucose-galactose malabsorption ⚠
p.Ile343Thr Single submitter SLC5A1-related disorder ⚠
p.Ile397= Single submitter glucose-galactose malabsorption
p.Ile438= Single submitter glucose-galactose malabsorption
p.Ile467Thr Single submitter glucose-galactose malabsorption ⚠
p.Ile588Thr Single submitter glucose-galactose malabsorption ⚠
p.Leu183= Single submitter glucose-galactose malabsorption
p.Leu288Val Single submitter Inborn genetic diseases ⚠
p.Thr203= Single submitter glucose-galactose malabsorption
p.Thr208= Single submitter glucose-galactose malabsorption
p.Thr271= Single submitter glucose-galactose malabsorption
p.Thr508= Single submitter glucose-galactose malabsorption
p.Thr519Met Single submitter Inborn genetic diseases ⚠
p.Trp477Cys Single submitter glucose-galactose malabsorption ⚠
p.Val209Leu Single submitter glucose-galactose malabsorption ⚠
p.Val33Ile Single submitter glucose-galactose malabsorption ⚠

Benign 33

c.1130-9C>T Multiple submitters glucose-galactose malabsorption
c.1666-5T>C Multiple submitters glucose-galactose malabsorption
c.313-79G>A Multiple submitters
c.373-9C>T Multiple submitters glucose-galactose malabsorption
c.*1432G>T Multiple submitters glucose-galactose malabsorption
c.*1804T>C Multiple submitters glucose-galactose malabsorption
c.*2245C>T Multiple submitters glucose-galactose malabsorption
c.*2257A>G Multiple submitters glucose-galactose malabsorption
c.*706C>T Multiple submitters glucose-galactose malabsorption
c.*795G>T Multiple submitters glucose-galactose malabsorption
c.*902T>G Multiple submitters glucose-galactose malabsorption
p.Ala411Thr Multiple submitters glucose-galactose malabsorption
p.Ala425= Multiple submitters glucose-galactose malabsorption
p.Asn51Ser Multiple submitters glucose-galactose malabsorption
p.Asn646= Multiple submitters glucose-galactose malabsorption
p.Asp2= Multiple submitters glucose-galactose malabsorption
p.His615Gln Multiple submitters glucose-galactose malabsorption
p.Leu612= Multiple submitters glucose-galactose malabsorption
p.Thr633= Multiple submitters glucose-galactose malabsorption
p.Val17Ala Multiple submitters glucose-galactose malabsorption
c.1771+3G>A Single submitter glucose-galactose malabsorption
c.312+317_312+318insAT Single submitter
c.312+329_312+330del Single submitter
c.584-88dup Single submitter
c.885+20G>A Single submitter glucose-galactose malabsorption
c.-170C>T Single submitter glucose-galactose malabsorption
c.*1508C>A Single submitter glucose-galactose malabsorption
c.*1940G>A Single submitter glucose-galactose malabsorption
c.*2244C>T Single submitter glucose-galactose malabsorption
c.*2275C>T Single submitter glucose-galactose malabsorption
c.*400C>T Single submitter glucose-galactose malabsorption
c.*771C>T Single submitter glucose-galactose malabsorption
p.Phe453= Single submitter glucose-galactose malabsorption

Benign/Likely benign 7

c.1129+7T>G Multiple submitters glucose-galactose malabsorption
c.1130-10_1130-8del Multiple submitters glucose-galactose malabsorption
c.1772-6G>A Multiple submitters glucose-galactose malabsorption
c.373-13G>A Multiple submitters glucose-galactose malabsorption
p.Asn248= Multiple submitters glucose-galactose malabsorption
p.Ile364= Multiple submitters glucose-galactose malabsorption
p.Ser400= Multiple submitters glucose-galactose malabsorption

Likely benign 197

c.1280+17C>T Multiple submitters glucose-galactose malabsorption
c.1666-10T>C Multiple submitters glucose-galactose malabsorption
c.208-8G>A Multiple submitters glucose-galactose malabsorption
c.373-7del Multiple submitters glucose-galactose malabsorption
c.584-6G>A Multiple submitters glucose-galactose malabsorption
c.886-10T>C Multiple submitters glucose-galactose malabsorption
p.Ala198= Multiple submitters glucose-galactose malabsorption
p.Ala27= Multiple submitters glucose-galactose malabsorption
p.Leu527= Multiple submitters glucose-galactose malabsorption
p.Pro552= Multiple submitters glucose-galactose malabsorption
p.Pro584= Multiple submitters glucose-galactose malabsorption
p.Thr10= Multiple submitters glucose-galactose malabsorption
p.Thr11= Multiple submitters glucose-galactose malabsorption
c.1021+15T>G Single submitter glucose-galactose malabsorption
c.1021+19C>T Single submitter glucose-galactose malabsorption
c.1021+9T>C Single submitter glucose-galactose malabsorption
c.1022-6T>G Single submitter glucose-galactose malabsorption
c.1022-7T>C Single submitter glucose-galactose malabsorption
c.1129+23_1129+26del Single submitter glucose-galactose malabsorption
c.1130-7C>A Single submitter glucose-galactose malabsorption
c.1130-7C>T Single submitter glucose-galactose malabsorption
c.1280+13T>C Single submitter glucose-galactose malabsorption
c.1280+7G>T Single submitter glucose-galactose malabsorption
c.1281-13G>T Single submitter glucose-galactose malabsorption
c.1281-8_1281-4dup Single submitter glucose-galactose malabsorption
c.135+10G>A Single submitter glucose-galactose malabsorption
c.135+12G>T Single submitter glucose-galactose malabsorption
c.135+14T>G Single submitter glucose-galactose malabsorption
c.135+16T>G Single submitter glucose-galactose malabsorption
c.135+9C>T Single submitter glucose-galactose malabsorption
c.136-17dup Single submitter glucose-galactose malabsorption
c.1449+13T>C Single submitter
c.1449+14G>A Single submitter glucose-galactose malabsorption
c.1450-18C>T Single submitter glucose-galactose malabsorption
c.1450-20C>T Single submitter glucose-galactose malabsorption
c.1450-5del Single submitter glucose-galactose malabsorption
c.1665+19G>C Single submitter glucose-galactose malabsorption
c.1665+7A>G Single submitter glucose-galactose malabsorption
c.1666-13G>A Single submitter glucose-galactose malabsorption
c.1666-20C>G Single submitter glucose-galactose malabsorption
c.1771+14C>G Single submitter glucose-galactose malabsorption
c.1771+20A>G Single submitter glucose-galactose malabsorption
c.1771+9T>C Single submitter glucose-galactose malabsorption
c.1772-10C>T Single submitter
c.1772-14A>G Single submitter glucose-galactose malabsorption
c.1772-18T>A Single submitter glucose-galactose malabsorption
c.1772-6G>T Single submitter glucose-galactose malabsorption
c.207+19G>A Single submitter glucose-galactose malabsorption
c.207+19G>C Single submitter glucose-galactose malabsorption
c.208-13T>C Single submitter glucose-galactose malabsorption
c.208-13T>G Single submitter glucose-galactose malabsorption
c.208-16T>C Single submitter glucose-galactose malabsorption
c.208-20A>C Single submitter glucose-galactose malabsorption
c.208-9C>T Single submitter glucose-galactose malabsorption
c.312+17C>A Single submitter glucose-galactose malabsorption
c.312+18C>A Single submitter glucose-galactose malabsorption
c.312+19A>G Single submitter glucose-galactose malabsorption
c.313-7A>G Single submitter glucose-galactose malabsorption
c.372+15T>G Single submitter glucose-galactose malabsorption
c.372+7_372+8del Single submitter glucose-galactose malabsorption
c.372+8T>G Single submitter glucose-galactose malabsorption
c.373-12C>T Single submitter glucose-galactose malabsorption
c.373-6A>G Single submitter glucose-galactose malabsorption
c.373-8C>T Single submitter glucose-galactose malabsorption
c.477+15C>T Single submitter glucose-galactose malabsorption
c.477+9A>G Single submitter glucose-galactose malabsorption
c.478-12C>T Single submitter glucose-galactose malabsorption
c.478-13C>T Single submitter glucose-galactose malabsorption
c.478-15C>G Single submitter glucose-galactose malabsorption
c.478-15C>T Single submitter glucose-galactose malabsorption
c.478-16T>C Single submitter glucose-galactose malabsorption
c.478-19G>A Single submitter glucose-galactose malabsorption
c.478-20C>T Single submitter glucose-galactose malabsorption
c.478-7dup Single submitter glucose-galactose malabsorption
c.583+20C>A Single submitter glucose-galactose malabsorption
c.584-19T>C Single submitter glucose-galactose malabsorption
c.584-4T>A Single submitter glucose-galactose malabsorption
c.584-5C>T Single submitter glucose-galactose malabsorption
c.664+14G>A Single submitter glucose-galactose malabsorption
c.665-12G>A Single submitter glucose-galactose malabsorption
c.665-13C>T Single submitter glucose-galactose malabsorption
c.885+15T>C Single submitter glucose-galactose malabsorption
c.885+16G>A Single submitter glucose-galactose malabsorption
c.885+19C>G Single submitter glucose-galactose malabsorption
c.885+19C>T Single submitter glucose-galactose malabsorption
c.886-15G>A Single submitter glucose-galactose malabsorption
c.886-5G>C Single submitter glucose-galactose malabsorption
c.-11dup Single submitter
c.-15C>T Single submitter
c.-36G>A Single submitter glucose-galactose malabsorption
c.*1203A>G Single submitter glucose-galactose malabsorption
c.*1237A>G Single submitter glucose-galactose malabsorption
c.*1455C>A Single submitter glucose-galactose malabsorption
c.*1476A>G Single submitter glucose-galactose malabsorption
p.Ala12= Single submitter glucose-galactose malabsorption
p.Ala123= Single submitter glucose-galactose malabsorption
p.Ala199= Single submitter glucose-galactose malabsorption
p.Ala239= Single submitter glucose-galactose malabsorption
p.Ala260= Single submitter glucose-galactose malabsorption
p.Ala401= Single submitter glucose-galactose malabsorption
p.Ala41= Single submitter glucose-galactose malabsorption
p.Ala411= Single submitter glucose-galactose malabsorption
p.Ala535= Single submitter glucose-galactose malabsorption
p.Ala535Val Single submitter Inborn genetic diseases
p.Ala72= Single submitter glucose-galactose malabsorption
p.Ala88= Single submitter glucose-galactose malabsorption
p.Arg140= Single submitter glucose-galactose malabsorption
p.Arg336= Single submitter glucose-galactose malabsorption
p.Arg427= Single submitter Inborn genetic diseases
p.Arg558= Single submitter glucose-galactose malabsorption
p.Arg564= Single submitter glucose-galactose malabsorption
p.Asn25= Single submitter glucose-galactose malabsorption
p.Asn363= Single submitter glucose-galactose malabsorption
p.Asn51= Single submitter glucose-galactose malabsorption
p.Asn579Asp Single submitter Inborn genetic diseases
p.Asn78= Single submitter glucose-galactose malabsorption
p.Asp230= Single submitter glucose-galactose malabsorption
p.Asp246= Single submitter glucose-galactose malabsorption
p.Asp261= Single submitter
p.Cys301= Single submitter glucose-galactose malabsorption
p.Cys314= Single submitter glucose-galactose malabsorption
p.Cys317= Single submitter glucose-galactose malabsorption
p.Cys345= Single submitter glucose-galactose malabsorption
p.Cys355= Single submitter glucose-galactose malabsorption
p.Glu18= Single submitter glucose-galactose malabsorption
p.Glu624= Single submitter glucose-galactose malabsorption
p.Gly227= Single submitter glucose-galactose malabsorption
p.Gly57= Single submitter glucose-galactose malabsorption
p.Gly611= Single submitter glucose-galactose malabsorption
p.Gly80= Single submitter glucose-galactose malabsorption
p.Gly82= Single submitter glucose-galactose malabsorption
p.His20= Single submitter
p.His224= Single submitter glucose-galactose malabsorption
p.His309= Single submitter glucose-galactose malabsorption
p.His615= Single submitter glucose-galactose malabsorption
p.Ile119= Single submitter glucose-galactose malabsorption
p.Ile158= Single submitter glucose-galactose malabsorption
p.Ile285= Single submitter glucose-galactose malabsorption
p.Ile327= Single submitter glucose-galactose malabsorption
p.Ile334= Single submitter glucose-galactose malabsorption
p.Ile34= Single submitter glucose-galactose malabsorption
p.Ile541= Single submitter glucose-galactose malabsorption
p.Ile544= Single submitter glucose-galactose malabsorption
p.Ile580= Single submitter glucose-galactose malabsorption
p.Leu112= Single submitter glucose-galactose malabsorption
p.Leu151= Single submitter glucose-galactose malabsorption
p.Leu171= Single submitter glucose-galactose malabsorption
p.Leu173= Single submitter glucose-galactose malabsorption
p.Leu177= Single submitter glucose-galactose malabsorption
p.Leu179= Single submitter glucose-galactose malabsorption
p.Leu206= Single submitter glucose-galactose malabsorption
p.Leu218= Single submitter glucose-galactose malabsorption
p.Leu288= Single submitter glucose-galactose malabsorption
p.Leu316= Single submitter glucose-galactose malabsorption
p.Leu383= Single submitter glucose-galactose malabsorption
p.Leu394= Single submitter glucose-galactose malabsorption
p.Leu491= Single submitter glucose-galactose malabsorption
p.Leu546= Single submitter glucose-galactose malabsorption
p.Leu563= Single submitter glucose-galactose malabsorption
p.Leu640= Single submitter glucose-galactose malabsorption
p.Leu652= Single submitter glucose-galactose malabsorption
p.Lys305= Single submitter glucose-galactose malabsorption
p.Lys321= Single submitter glucose-galactose malabsorption
p.Lys412= Single submitter glucose-galactose malabsorption
p.Lys415= Single submitter glucose-galactose malabsorption
p.Lys478= Single submitter glucose-galactose malabsorption
p.Pro331= Single submitter glucose-galactose malabsorption
p.Pro514= Single submitter glucose-galactose malabsorption
p.Ser149= Single submitter glucose-galactose malabsorption
p.Ser164= Single submitter glucose-galactose malabsorption
p.Ser245= Single submitter glucose-galactose malabsorption
p.Ser392= Single submitter glucose-galactose malabsorption
p.Ser393= Single submitter glucose-galactose malabsorption
p.Ser77= Single submitter glucose-galactose malabsorption
p.Thr395= Single submitter glucose-galactose malabsorption
p.Thr502= Single submitter glucose-galactose malabsorption
p.Thr519= Single submitter glucose-galactose malabsorption
p.Thr54= Single submitter glucose-galactose malabsorption
p.Thr540Ile Single submitter Inborn genetic diseases
p.Thr654= Single submitter glucose-galactose malabsorption
p.Tyr191= Single submitter glucose-galactose malabsorption
p.Tyr236= Single submitter glucose-galactose malabsorption
p.Tyr410= Single submitter glucose-galactose malabsorption
p.Tyr506= Single submitter glucose-galactose malabsorption
p.Val110= Single submitter glucose-galactose malabsorption
p.Val126= Single submitter glucose-galactose malabsorption
p.Val143= Single submitter glucose-galactose malabsorption
p.Val200= Single submitter glucose-galactose malabsorption
p.Val329= Single submitter glucose-galactose malabsorption
p.Val346= Single submitter glucose-galactose malabsorption
p.Val38= Single submitter glucose-galactose malabsorption
p.Val413= Single submitter glucose-galactose malabsorption
p.Val42= Single submitter glucose-galactose malabsorption
p.Val554= Single submitter glucose-galactose malabsorption
p.Val647= Single submitter glucose-galactose malabsorption
p.Val647Ile Single submitter Inborn genetic diseases
p.Val657= Single submitter

Uncertain significance 226

c.312+3G>A Multiple submitters glucose-galactose malabsorption
p.Ala12Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala198Val Multiple submitters glucose-galactose malabsorption ⚠
p.Ala199Val Multiple submitters Inborn genetic diseases ⚠
p.Ala41Thr Multiple submitters glucose-galactose malabsorption ⚠
p.Ala439Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala468Glu Multiple submitters glucose-galactose malabsorption ⚠
p.Ala61Val Multiple submitters glucose-galactose malabsorption ⚠
p.Arg135Gln Multiple submitters glucose-galactose malabsorption ⚠
p.Arg140Gln Multiple submitters glucose-galactose malabsorption ⚠
p.Arg15Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg24Cys Multiple submitters glucose-galactose malabsorption
p.Arg414His Multiple submitters glucose-galactose malabsorption ⚠
p.Arg52Cys Multiple submitters glucose-galactose malabsorption ⚠
p.Arg52His Multiple submitters glucose-galactose malabsorption ⚠
p.Arg558Cys Multiple submitters glucose-galactose malabsorption ⚠
p.Arg564His Multiple submitters glucose-galactose malabsorption ⚠
p.Arg63Gln Multiple submitters Inborn genetic diseases ⚠
p.Asn376Asp Multiple submitters Inborn genetic diseases ⚠
p.Asn376Ser Multiple submitters glucose-galactose malabsorption ⚠
p.Asn565Asp Multiple submitters glucose-galactose malabsorption ⚠
p.Glu352Lys Multiple submitters glucose-galactose malabsorption ⚠
p.Glu419Val Multiple submitters SLC5A1-related disorder ⚠
p.Glu578Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu622Asp Multiple submitters glucose-galactose malabsorption ⚠
p.Gly313Asp Multiple submitters glucose-galactose malabsorption ⚠
p.Gly356Ser Multiple submitters glucose-galactose malabsorption ⚠
p.Gly426Arg Multiple submitters glucose-galactose malabsorption ⚠
p.Ile34Thr Multiple submitters glucose-galactose malabsorption ⚠
p.Ile434Thr Multiple submitters Inborn genetic diseases ⚠
p.Leu108Ser Multiple submitters glucose-galactose malabsorption ⚠
p.Leu115Arg Multiple submitters glucose-galactose malabsorption ⚠
p.Leu179Ser Multiple submitters glucose-galactose malabsorption ⚠
p.Leu338Val Multiple submitters glucose-galactose malabsorption ⚠
p.Met233Val Multiple submitters Inborn genetic diseases ⚠
p.Met374Val Multiple submitters glucose-galactose malabsorption ⚠
p.Met423Val Multiple submitters Inborn genetic diseases ⚠
p.Met65Thr Multiple submitters glucose-galactose malabsorption ⚠
p.Pro241Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro483= Multiple submitters glucose-galactose malabsorption
p.Pro595Thr Multiple submitters glucose-galactose malabsorption ⚠
p.Pro639Ala Multiple submitters glucose-galactose malabsorption ⚠
p.Pro639Ser Multiple submitters Inborn genetic diseases ⚠
p.Ser164Leu Multiple submitters glucose-galactose malabsorption ⚠
p.Ser30Phe Multiple submitters glucose-galactose malabsorption
p.Thr257Ile Multiple submitters glucose-galactose malabsorption ⚠
p.Thr548Ser Multiple submitters glucose-galactose malabsorption ⚠
p.Trp103Gly Multiple submitters glucose-galactose malabsorption ⚠
p.Tyr229_Phe232del Multiple submitters glucose-galactose malabsorption
p.Val310Met Multiple submitters glucose-galactose malabsorption ⚠
p.Val37Met Multiple submitters glucose-galactose malabsorption ⚠
c.1129+3G>A Single submitter glucose-galactose malabsorption
c.1129+6_1129+7delinsTG Single submitter glucose-galactose malabsorption
c.1449+15G>T Single submitter glucose-galactose malabsorption
c.1665+3G>A Single submitter glucose-galactose malabsorption
c.1772-11C>T Single submitter glucose-galactose malabsorption
c.1772-5C>A Single submitter glucose-galactose malabsorption
c.313-7A>T Single submitter glucose-galactose malabsorption
c.373-10C>T Single submitter glucose-galactose malabsorption
c.478-11T>A Single submitter glucose-galactose malabsorption
c.583+3G>A Single submitter glucose-galactose malabsorption
c.664+11C>T Single submitter glucose-galactose malabsorption
c.885+5C>T Single submitter glucose-galactose malabsorption
c.-120C>T Single submitter glucose-galactose malabsorption
c.-238G>A Single submitter glucose-galactose malabsorption
c.-23G>A Single submitter glucose-galactose malabsorption
c.-51G>A Single submitter glucose-galactose malabsorption
c.-60C>T Single submitter glucose-galactose malabsorption
c.*1053G>A Single submitter glucose-galactose malabsorption
c.*1251G>T Single submitter glucose-galactose malabsorption
c.*1312A>G Single submitter glucose-galactose malabsorption
c.*1346A>G Single submitter glucose-galactose malabsorption
c.*1408G>A Single submitter glucose-galactose malabsorption
c.*1522T>G Single submitter glucose-galactose malabsorption
c.*1559C>T Single submitter glucose-galactose malabsorption
c.*155C>T Single submitter glucose-galactose malabsorption
c.*1595A>C Single submitter glucose-galactose malabsorption
c.*1744G>A Single submitter glucose-galactose malabsorption
c.*1755T>G Single submitter glucose-galactose malabsorption
c.*183G>C Single submitter glucose-galactose malabsorption
c.*1842C>T Single submitter glucose-galactose malabsorption
c.*1995T>C Single submitter glucose-galactose malabsorption
c.*2132C>A Single submitter glucose-galactose malabsorption
c.*2201G>A Single submitter glucose-galactose malabsorption
c.*2251G>A Single submitter glucose-galactose malabsorption
c.*2352A>T Single submitter glucose-galactose malabsorption
c.*2411C>G Single submitter glucose-galactose malabsorption
c.*2612T>C Single submitter glucose-galactose malabsorption
c.*2694A>G Single submitter glucose-galactose malabsorption
c.*334G>A Single submitter glucose-galactose malabsorption
c.*451A>G Single submitter glucose-galactose malabsorption
c.*510G>A Single submitter glucose-galactose malabsorption
c.*599C>T Single submitter glucose-galactose malabsorption
c.*636A>G Single submitter glucose-galactose malabsorption
c.*638T>C Single submitter glucose-galactose malabsorption
c.*649G>A Single submitter glucose-galactose malabsorption
c.*703C>T Single submitter glucose-galactose malabsorption
c.*707G>A Single submitter glucose-galactose malabsorption
c.*715del Single submitter
p.Ala160Pro Single submitter Inborn genetic diseases ⚠
p.Ala231Thr Single submitter glucose-galactose malabsorption ⚠
p.Ala344Ser Single submitter glucose-galactose malabsorption ⚠
p.Ala401Thr Single submitter glucose-galactose malabsorption ⚠
p.Ala401Val Single submitter glucose-galactose malabsorption ⚠
p.Ala411Val Single submitter glucose-galactose malabsorption ⚠
p.Ala447Thr Single submitter glucose-galactose malabsorption ⚠
p.Ala468Val Single submitter glucose-galactose malabsorption ⚠
p.Ala469Val Single submitter SLC5A1-related disorder ⚠
p.Ala535Thr Single submitter glucose-galactose malabsorption ⚠
p.Ala575Glu Single submitter glucose-galactose malabsorption ⚠
p.Ala575Val Single submitter glucose-galactose malabsorption ⚠
p.Ala605Val Single submitter glucose-galactose malabsorption ⚠
p.Ala61Glu Single submitter glucose-galactose malabsorption ⚠
p.Ala92Thr Single submitter Inborn genetic diseases ⚠
p.Ala93Thr Single submitter glucose-galactose malabsorption ⚠
p.Arg15Gln Single submitter glucose-galactose malabsorption ⚠
p.Arg267Gln Single submitter glucose-galactose malabsorption ⚠
p.Arg300Cys Single submitter glucose-galactose malabsorption ⚠
p.Arg379Gln Single submitter glucose-galactose malabsorption ⚠
p.Arg414Cys Single submitter glucose-galactose malabsorption ⚠
p.Arg427Ser Single submitter glucose-galactose malabsorption ⚠
p.Asn170Ser Single submitter Inborn genetic diseases ⚠
p.Asn363Ser Single submitter glucose-galactose malabsorption ⚠
p.Asp161Asn Single submitter ⚠
p.Asp204Gly Single submitter glucose-galactose malabsorption ⚠
p.Asp261Asn Single submitter Inborn genetic diseases ⚠
p.Asp28Gly Single submitter glucose-galactose malabsorption ⚠
p.Asp408= Single submitter glucose-galactose malabsorption
p.Asp454Asn Single submitter glucose-galactose malabsorption ⚠
p.Gln445Arg Single submitter glucose-galactose malabsorption ⚠
p.Gln457His Single submitter glucose-galactose malabsorption ⚠
p.Glu18Gly Single submitter Inborn genetic diseases ⚠
p.Glu253Asp Single submitter glucose-galactose malabsorption ⚠
p.Glu419Gly Single submitter glucose-galactose malabsorption ⚠
p.Glu421Gln Single submitter glucose-galactose malabsorption ⚠
p.Glu568Gln Single submitter glucose-galactose malabsorption ⚠
p.Glu568Gly Single submitter Inborn genetic diseases ⚠
p.Glu577Ala Single submitter glucose-galactose malabsorption ⚠
p.Glu582Ala Single submitter Inborn genetic diseases ⚠
p.Glu582Lys Single submitter glucose-galactose malabsorption ⚠
p.Glu596Ala Single submitter glucose-galactose malabsorption ⚠
p.Glu623Lys Single submitter glucose-galactose malabsorption ⚠
p.Gly124= Single submitter glucose-galactose malabsorption
p.Gly356Cys Single submitter glucose-galactose malabsorption ⚠
p.Gly435Ser Single submitter Inborn genetic diseases ⚠
p.Gly43Arg Single submitter glucose-galactose malabsorption ⚠
p.Gly464Arg Single submitter glucose-galactose malabsorption ⚠
p.Gly509Arg Single submitter Inborn genetic diseases
p.Gly53Glu Single submitter glucose-galactose malabsorption ⚠
p.Gly583Arg Single submitter Inborn genetic diseases ⚠
p.Gly89Arg Single submitter glucose-galactose malabsorption ⚠
p.Gly91Ala Single submitter glucose-galactose malabsorption ⚠
p.Ile141Met Single submitter Inborn genetic diseases ⚠
p.Ile154Thr Single submitter glucose-galactose malabsorption ⚠
p.Ile162Met Single submitter Inborn genetic diseases ⚠
p.Ile187Val Single submitter glucose-galactose malabsorption ⚠
p.Ile217Thr Single submitter glucose-galactose malabsorption ⚠
p.Ile280Thr Single submitter glucose-galactose malabsorption ⚠
p.Ile29Val Single submitter glucose-galactose malabsorption ⚠
p.Ile490Val Single submitter Inborn genetic diseases ⚠
p.Ile571Val Single submitter glucose-galactose malabsorption ⚠
p.Ile580Val Single submitter glucose-galactose malabsorption ⚠
p.Ile601Asn Single submitter Inborn genetic diseases ⚠
p.Ile601Val Single submitter glucose-galactose malabsorption ⚠
p.Ile96Val Single submitter glucose-galactose malabsorption ⚠
p.Ile98Thr Single submitter glucose-galactose malabsorption ⚠
p.Leu151Met Single submitter Inborn genetic diseases ⚠
p.Leu493His Single submitter glucose-galactose malabsorption
p.Leu556Pro Single submitter ⚠
p.Leu640Phe Single submitter Inborn genetic diseases ⚠
p.Leu640Ser Single submitter glucose-galactose malabsorption ⚠
p.Lys254Glu Single submitter glucose-galactose malabsorption ⚠
p.Lys305del Single submitter glucose-galactose malabsorption
p.Lys9Glu Single submitter Inborn genetic diseases ⚠
p.Met237Leu Single submitter glucose-galactose malabsorption ⚠
p.Met307Val Single submitter glucose-galactose malabsorption ⚠
p.Met325Val Single submitter ⚠
p.Met386Val Single submitter glucose-galactose malabsorption ⚠
p.Met391Ile Single submitter Inborn genetic diseases ⚠
p.Met391Leu Single submitter glucose-galactose malabsorption ⚠
p.Met512Ile Single submitter Inborn genetic diseases ⚠
p.Met628Thr Single submitter glucose-galactose malabsorption ⚠
p.Met630Lys Single submitter glucose-galactose malabsorption ⚠
p.Met632_Thr633insLysMet Single submitter glucose-galactose malabsorption
p.Phe116Tyr Single submitter Inborn genetic diseases ⚠
p.Phe476Cys Single submitter glucose-galactose malabsorption ⚠
p.Pro16Ala Single submitter Inborn genetic diseases ⚠
p.Pro258Leu Single submitter Inborn genetic diseases ⚠
p.Pro466Ser Single submitter ⚠
p.Pro584Leu Single submitter glucose-galactose malabsorption ⚠
p.Pro639Thr Single submitter Inborn genetic diseases ⚠
p.Pro69= Single submitter glucose-galactose malabsorption
p.Pro69Leu Single submitter glucose-galactose malabsorption ⚠
p.Ser146Phe Single submitter ⚠
p.Ser159= Single submitter glucose-galactose malabsorption
p.Ser159Leu Single submitter Inborn genetic diseases ⚠
p.Ser4dup Single submitter glucose-galactose malabsorption
p.Ser566Asn Single submitter glucose-galactose malabsorption ⚠
p.Ser73Phe Single submitter glucose-galactose malabsorption ⚠
p.Ter665= Single submitter glucose-galactose malabsorption
p.Ter665Arg Single submitter glucose-galactose malabsorption
p.Thr14Ile Single submitter glucose-galactose malabsorption ⚠
p.Thr14Ser Single submitter Inborn genetic diseases ⚠
p.Thr194Ile Single submitter glucose-galactose malabsorption ⚠
p.Thr203Met Single submitter Inborn genetic diseases ⚠
p.Thr208Met Single submitter glucose-galactose malabsorption ⚠
p.Thr271Met Single submitter glucose-galactose malabsorption ⚠
p.Thr368Ala Single submitter glucose-galactose malabsorption ⚠
p.Thr403Ile Single submitter Inborn genetic diseases ⚠
p.Thr540Ala Single submitter glucose-galactose malabsorption ⚠
p.Thr5Ile Single submitter glucose-galactose malabsorption ⚠
p.Thr633Met Single submitter Inborn genetic diseases ⚠
p.Trp6Arg Single submitter glucose-galactose malabsorption ⚠
p.Tyr256Cys Single submitter Inborn genetic diseases ⚠
p.Tyr319His Single submitter glucose-galactose malabsorption ⚠
p.Tyr366Cys Single submitter glucose-galactose malabsorption ⚠
p.Val109Leu Single submitter glucose-galactose malabsorption ⚠
p.Val126Met Single submitter glucose-galactose malabsorption ⚠
p.Val200del Single submitter
p.Val209Met Single submitter ⚠
p.Val359Ile Single submitter ⚠
p.Val524Met Single submitter glucose-galactose malabsorption ⚠
p.Val543Gly Single submitter glucose-galactose malabsorption ⚠
p.Val55Ala Single submitter glucose-galactose malabsorption ⚠
p.Val66Met Single submitter glucose-galactose malabsorption ⚠
p.Arg140Gly No assertion criteria SLC5A1-related disorder ⚠