Sugi Variant

Sugi Variant/SLC4A4

SLC4A4 — 429 ClinVar variants

All ClinVar germline SLC4A4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 137 flagged for review →

5 Pathogenic · 8 Likely pathogenic · 26 Conflicting · 61 Benign · 13 Benign/Likely benign · 90 Likely benign · 226 Uncertain significance

Full SLC4A4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 137

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 8

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

Predictors lean, ClinVar uncertain 101

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

Predictors split 28

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

All SLC4A4 variants

Pathogenic 5

  • c.*206G>A Single submitter autosomal recessive proximal renal tubular acidosis
  • p.Arg93Ter Single submitter autosomal recessive proximal renal tubular acidosis
  • p.Lys277fs Single submitter autosomal recessive proximal renal tubular acidosis
  • p.Arg342Ser No assertion criteria autosomal recessive proximal renal tubular acidosis
  • p.Asn765fs No assertion criteria autosomal recessive proximal renal tubular acidosis

Likely pathogenic 8

  • c.551-2A>G Single submitter
  • p.Arg390Ser Single submitter autosomal recessive proximal renal tubular acidosis
  • p.Asp281Val Single submitter
  • p.Glu339Lys Single submitter combined oxidative phosphorylation defect type 24
  • p.Glu673Ter Single submitter SLC4A4-related disorder
  • p.Lys54Ter Single submitter autosomal recessive proximal renal tubular acidosis
  • p.Ser285fs Single submitter autosomal recessive proximal renal tubular acidosis
  • p.Ser471Leu Single submitter autosomal recessive proximal renal tubular acidosis

Conflicting classifications of pathogenicity 26

  • c.1209-14G>A Single submitter autosomal recessive proximal renal tubular acidosis
  • c.2694+10T>A Single submitter autosomal recessive proximal renal tubular acidosis
  • c.390-11C>T Single submitter autosomal recessive proximal renal tubular acidosis
  • c.390-5C>T Single submitter autosomal recessive proximal renal tubular acidosis
  • c.965+11C>T Single submitter autosomal recessive proximal renal tubular acidosis
  • p.Arg174Trp Single submitter autosomal recessive proximal renal tubular acidosis ⚠
  • p.Asn680Lys Single submitter autosomal recessive proximal renal tubular acidosis ⚠
  • p.Asn684Ile Single submitter autosomal recessive proximal renal tubular acidosis ⚠
  • p.Cys433Arg Single submitter autosomal recessive proximal renal tubular acidosis ⚠
  • p.Glu648Lys Single submitter autosomal recessive proximal renal tubular acidosis ⚠
  • p.Gly50Ala Single submitter autosomal recessive proximal renal tubular acidosis ⚠
  • p.Gly747= Single submitter autosomal recessive proximal renal tubular acidosis
  • p.Ile975= Single submitter autosomal recessive proximal renal tubular acidosis
  • p.Leu314= Single submitter autosomal recessive proximal renal tubular acidosis
  • p.Lys211= Single submitter autosomal recessive proximal renal tubular acidosis
  • p.Lys229= Single submitter autosomal recessive proximal renal tubular acidosis
  • p.Lys602Arg Single submitter autosomal recessive proximal renal tubular acidosis ⚠
  • p.Met653Val Single submitter Inborn genetic diseases ⚠
  • p.Phe892Leu Single submitter autosomal recessive proximal renal tubular acidosis ⚠
  • p.Pro420= Single submitter autosomal recessive proximal renal tubular acidosis
  • p.Pro771Ser Single submitter autosomal recessive proximal renal tubular acidosis ⚠
  • p.Ser1059= Single submitter autosomal recessive proximal renal tubular acidosis
  • p.Ser670= Single submitter autosomal recessive proximal renal tubular acidosis
  • p.Thr419= Single submitter autosomal recessive proximal renal tubular acidosis
  • p.Tyr677= Single submitter autosomal recessive proximal renal tubular acidosis
  • p.Val748Ala Single submitter autosomal recessive proximal renal tubular acidosis ⚠

Benign 61

Benign/Likely benign 13

  • c.1322+15C>T Multiple submitters autosomal recessive proximal renal tubular acidosis
  • c.2764-2dup Multiple submitters
  • c.2938-20T>C Multiple submitters
  • c.3099+15A>G Multiple submitters autosomal recessive proximal renal tubular acidosis
  • c.550+3A>G Multiple submitters autosomal recessive proximal renal tubular acidosis
  • c.807+13T>G Multiple submitters autosomal recessive proximal renal tubular acidosis
  • c.*202GTTT[1] Multiple submitters
  • p.Asp226= Multiple submitters autosomal recessive proximal renal tubular acidosis
  • p.Glu758Gln Multiple submitters autosomal recessive proximal renal tubular acidosis
  • p.His338= Multiple submitters autosomal recessive proximal renal tubular acidosis
  • p.His425= Multiple submitters autosomal recessive proximal renal tubular acidosis
  • p.Leu726= Multiple submitters autosomal recessive proximal renal tubular acidosis
  • p.Lys812= Multiple submitters autosomal recessive proximal renal tubular acidosis

Likely benign 90

Uncertain significance 226

  • c.1208+4A>C Multiple submitters autosomal recessive proximal renal tubular acidosis
  • c.1322+5C>T Multiple submitters autosomal recessive proximal renal tubular acidosis
  • c.*26G>T Multiple submitters autosomal recessive proximal renal tubular acidosis
  • p.Ala454Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala454Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala667Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala744Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala817Thr Multiple submitters autosomal recessive proximal renal tubular acidosis ⚠
  • p.Arg1075Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg441Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg925Cys Multiple submitters autosomal recessive proximal renal tubular acidosis ⚠
  • p.Arg925His Multiple submitters autosomal recessive proximal renal tubular acidosis ⚠
  • p.Asn687Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Glu90Asp Multiple submitters Inborn genetic diseases
  • p.Gly14Glu Multiple submitters Inborn genetic diseases
  • p.Gly244Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Gly440Arg Multiple submitters Inborn genetic diseases ⚠
  • p.His1076Arg Multiple submitters Inborn genetic diseases ⚠
  • p.His421Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Ile300Val Multiple submitters autosomal recessive proximal renal tubular acidosis ⚠
  • p.Ile692Ser Multiple submitters autosomal recessive proximal renal tubular acidosis ⚠
  • p.Leu347Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu829Ile Multiple submitters autosomal recessive proximal renal tubular acidosis ⚠
  • p.Leu835Phe Multiple submitters autosomal recessive proximal renal tubular acidosis ⚠
  • p.Met171Val Multiple submitters Inborn genetic diseases ⚠
  • p.Met248Val Multiple submitters autosomal recessive proximal renal tubular acidosis ⚠
  • p.Phe24Ile Multiple submitters Inborn genetic diseases
  • p.Phe688Ser Multiple submitters autosomal recessive proximal renal tubular acidosis
  • p.Pro1056Leu Multiple submitters autosomal recessive proximal renal tubular acidosis
  • p.Pro1063Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro1063Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Pro106His Multiple submitters Inborn genetic diseases ⚠
  • p.Pro717Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro868Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ser65Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Thr110Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val183Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val806Ile Multiple submitters Inborn genetic diseases ⚠
  • c.1903+17T>G Single submitter autosomal recessive proximal renal tubular acidosis
  • c.254-187G>A Single submitter autosomal recessive proximal renal tubular acidosis
  • c.254-200T>C Single submitter autosomal recessive proximal renal tubular acidosis
  • c.2695-15T>G Single submitter autosomal recessive proximal renal tubular acidosis
  • c.3100-18T>G Single submitter autosomal recessive proximal renal tubular acidosis
  • c.3100-3C>T Single submitter autosomal recessive proximal renal tubular acidosis
  • c.389+6G>T Single submitter autosomal recessive proximal renal tubular acidosis
  • c.730+6G>T Single submitter autosomal recessive proximal renal tubular acidosis
  • c.74-5C>G Single submitter autosomal recessive proximal renal tubular acidosis
  • c.807+3A>T Single submitter Inborn genetic diseases
  • c.808-4G>T Single submitter autosomal recessive proximal renal tubular acidosis
  • c.*1003A>G Single submitter autosomal recessive proximal renal tubular acidosis
  • c.*1009A>G Single submitter autosomal recessive proximal renal tubular acidosis
  • c.*1028A>G Single submitter autosomal recessive proximal renal tubular acidosis
  • c.*1065A>C Single submitter autosomal recessive proximal renal tubular acidosis
  • c.*1067A>G Single submitter autosomal recessive proximal renal tubular acidosis
  • c.*1077C>A Single submitter autosomal recessive proximal renal tubular acidosis
  • c.*1184T>C Single submitter autosomal recessive proximal renal tubular acidosis
  • c.*1202A>G Single submitter autosomal recessive proximal renal tubular acidosis
  • c.*1407A>C Single submitter autosomal recessive proximal renal tubular acidosis
  • c.*1450C>T Single submitter autosomal recessive proximal renal tubular acidosis
  • c.*1467T>G Single submitter autosomal recessive proximal renal tubular acidosis
  • c.*1509A>G Single submitter autosomal recessive proximal renal tubular acidosis
  • c.*1526C>A Single submitter autosomal recessive proximal renal tubular acidosis
  • c.*1536T>G Single submitter autosomal recessive proximal renal tubular acidosis
  • c.*1617C>A Single submitter autosomal recessive proximal renal tubular acidosis
  • c.*1627A>T Single submitter autosomal recessive proximal renal tubular acidosis
  • c.*1707A>G Single submitter autosomal recessive proximal renal tubular acidosis
  • c.*1761G>A Single submitter autosomal recessive proximal renal tubular acidosis
  • c.*1956T>C Single submitter autosomal recessive proximal renal tubular acidosis
  • c.*2002C>A Single submitter autosomal recessive proximal renal tubular acidosis
  • c.*2126A>G Single submitter autosomal recessive proximal renal tubular acidosis
  • c.*2172A>G Single submitter autosomal recessive proximal renal tubular acidosis
  • c.*217A>G Single submitter autosomal recessive proximal renal tubular acidosis
  • c.*2184C>T Single submitter autosomal recessive proximal renal tubular acidosis
  • c.*2365G>A Single submitter autosomal recessive proximal renal tubular acidosis
  • c.*2447A>G Single submitter autosomal recessive proximal renal tubular acidosis
  • c.*26G>A Single submitter autosomal recessive proximal renal tubular acidosis
  • c.*2819A>C Single submitter autosomal recessive proximal renal tubular acidosis
  • c.*2863C>T Single submitter autosomal recessive proximal renal tubular acidosis
  • c.*286A>G Single submitter autosomal recessive proximal renal tubular acidosis
  • c.*2916A>G Single submitter autosomal recessive proximal renal tubular acidosis
  • c.*2975G>A Single submitter autosomal recessive proximal renal tubular acidosis
  • c.*2995G>A Single submitter autosomal recessive proximal renal tubular acidosis
  • c.*3016T>C Single submitter autosomal recessive proximal renal tubular acidosis
  • c.*3056A>G Single submitter autosomal recessive proximal renal tubular acidosis
  • c.*3370C>T Single submitter autosomal recessive proximal renal tubular acidosis
  • c.*3469A>G Single submitter autosomal recessive proximal renal tubular acidosis
  • c.*3574A>G Single submitter autosomal recessive proximal renal tubular acidosis
  • c.*3577A>G Single submitter autosomal recessive proximal renal tubular acidosis
  • c.*3615C>T Single submitter autosomal recessive proximal renal tubular acidosis
  • c.*3702T>C Single submitter autosomal recessive proximal renal tubular acidosis
  • c.*3712T>C Single submitter autosomal recessive proximal renal tubular acidosis
  • c.*3713T>G Single submitter autosomal recessive proximal renal tubular acidosis
  • c.*3747G>A Single submitter autosomal recessive proximal renal tubular acidosis
  • c.*3802C>T Single submitter autosomal recessive proximal renal tubular acidosis
  • c.*3994C>T Single submitter autosomal recessive proximal renal tubular acidosis
  • c.*4017C>T Single submitter autosomal recessive proximal renal tubular acidosis
  • c.*517G>A Single submitter autosomal recessive proximal renal tubular acidosis
  • c.*552A>C Single submitter autosomal recessive proximal renal tubular acidosis
  • c.*695C>G Single submitter autosomal recessive proximal renal tubular acidosis
  • c.*708C>A Single submitter autosomal recessive proximal renal tubular acidosis
  • c.*734G>A Single submitter autosomal recessive proximal renal tubular acidosis
  • c.*748T>C Single submitter autosomal recessive proximal renal tubular acidosis
  • c.*761T>C Single submitter autosomal recessive proximal renal tubular acidosis
  • c.*815C>T Single submitter autosomal recessive proximal renal tubular acidosis
  • c.*880T>A Single submitter autosomal recessive proximal renal tubular acidosis
  • c.*989T>C Single submitter autosomal recessive proximal renal tubular acidosis
  • p.Ala494Val Single submitter autosomal recessive proximal renal tubular acidosis ⚠
  • p.Ala88Pro Single submitter Inborn genetic diseases ⚠
  • p.Arg1068Ser Single submitter autosomal recessive proximal renal tubular acidosis ⚠
  • p.Arg174Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg20Gln Single submitter autosomal recessive proximal renal tubular acidosis
  • p.Arg213Gln Single submitter
  • p.Arg213Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg280His Single submitter autosomal recessive proximal renal tubular acidosis ⚠
  • p.Arg40Ser Single submitter Inborn genetic diseases ⚠
  • p.Arg441= Single submitter autosomal recessive proximal renal tubular acidosis
  • p.Arg44His Single submitter Inborn genetic diseases ⚠
  • p.Arg91Cys Single submitter autosomal recessive proximal renal tubular acidosis ⚠
  • p.Arg948Cys Single submitter autosomal recessive proximal renal tubular acidosis ⚠
  • p.Arg948His Single submitter Inborn genetic diseases ⚠
  • p.Asn1031Tyr Single submitter autosomal recessive proximal renal tubular acidosis ⚠
  • p.Asn220Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn412Ser Single submitter autosomal recessive proximal renal tubular acidosis ⚠
  • p.Asn685Ser Single submitter autosomal recessive proximal renal tubular acidosis ⚠
  • p.Asp1050Ala Single submitter Inborn genetic diseases
  • p.Asp1060Asn Single submitter ⚠
  • p.Asp1065Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp371Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp545Glu Single submitter autosomal recessive proximal renal tubular acidosis ⚠
  • p.Asp853Asn Single submitter autosomal recessive proximal renal tubular acidosis
  • p.Cys164Tyr Single submitter ⚠
  • p.Cys516Ser Single submitter Inborn genetic diseases ⚠
  • p.Gln121Arg Single submitter autosomal recessive proximal renal tubular acidosis ⚠
  • p.Gln437His Single submitter ⚠
  • p.Gln468Arg Single submitter Inborn genetic diseases ⚠
  • p.Glu1040Ala Single submitter autosomal recessive proximal renal tubular acidosis ⚠
  • p.Glu1067Gly Single submitter ⚠
  • p.Glu175Val Single submitter Inborn genetic diseases ⚠
  • p.Glu24= Single submitter autosomal recessive proximal renal tubular acidosis
  • p.Gly409Ala Single submitter autosomal recessive proximal renal tubular acidosis ⚠
  • p.Gly426Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly429= Single submitter autosomal recessive proximal renal tubular acidosis
  • p.Gly500= Single submitter autosomal recessive proximal renal tubular acidosis
  • p.Gly530Arg Single submitter autosomal recessive proximal renal tubular acidosis ⚠
  • p.Gly683Arg Single submitter autosomal recessive proximal renal tubular acidosis ⚠
  • p.Gly97Glu Single submitter autosomal recessive proximal renal tubular acidosis ⚠
  • p.His1076Tyr Single submitter autosomal recessive proximal renal tubular acidosis ⚠
  • p.His189Tyr Single submitter autosomal recessive proximal renal tubular acidosis ⚠
  • p.His354Arg Single submitter Inborn genetic diseases ⚠
  • p.His421Asn Single submitter Inborn genetic diseases ⚠
  • p.His430Arg Single submitter autosomal recessive proximal renal tubular acidosis
  • p.His660Arg Single submitter Inborn genetic diseases ⚠
  • p.Ile170Thr Single submitter autosomal recessive proximal renal tubular acidosis ⚠
  • p.Ile378Leu Single submitter autosomal recessive proximal renal tubular acidosis ⚠
  • p.Ile450Thr Single submitter Inborn genetic diseases ⚠
  • p.Ile605Met Single submitter autosomal recessive proximal renal tubular acidosis ⚠
  • p.Ile70Thr Single submitter Inborn genetic diseases ⚠
  • p.Ile727Thr Single submitter Inborn genetic diseases ⚠
  • p.Ile732Val Single submitter ⚠
  • p.Ile793Leu Single submitter autosomal recessive proximal renal tubular acidosis ⚠
  • p.Ile795Val Single submitter Inborn genetic diseases ⚠
  • p.Ile828Met Single submitter Inborn genetic diseases ⚠
  • p.Ile832Val Single submitter autosomal recessive proximal renal tubular acidosis ⚠
  • p.Ile849Met Single submitter autosomal recessive proximal renal tubular acidosis
  • p.Leu1073His Single submitter Inborn genetic diseases ⚠
  • p.Leu1073Phe Single submitter autosomal recessive proximal renal tubular acidosis ⚠
  • p.Leu179Val Single submitter autosomal recessive proximal renal tubular acidosis ⚠
  • p.Leu200Phe Single submitter autosomal recessive proximal renal tubular acidosis ⚠
  • p.Leu278Met Single submitter Inborn genetic diseases
  • p.Leu305= Single submitter autosomal recessive proximal renal tubular acidosis
  • p.Leu327Phe Single submitter autosomal recessive proximal renal tubular acidosis ⚠
  • p.Leu366Met Single submitter autosomal recessive proximal renal tubular acidosis ⚠
  • p.Leu745Val Single submitter Inborn genetic diseases ⚠
  • p.Leu871Arg Single submitter autosomal recessive proximal renal tubular acidosis ⚠
  • p.Leu930= Single submitter autosomal recessive proximal renal tubular acidosis
  • p.Leu961Val Single submitter autosomal recessive proximal renal tubular acidosis ⚠
  • p.Leu967Phe Single submitter autosomal recessive proximal renal tubular acidosis ⚠
  • p.Lys1024del Single submitter autosomal recessive proximal renal tubular acidosis
  • p.Lys271Asn Single submitter Inborn genetic diseases ⚠
  • p.Lys48Asn Single submitter Inborn genetic diseases ⚠
  • p.Lys606= Single submitter autosomal recessive proximal renal tubular acidosis
  • p.Lys67Arg Single submitter Inborn genetic diseases ⚠
  • p.Lys714Arg Single submitter ⚠
  • p.Lys760Arg Single submitter Inborn genetic diseases ⚠
  • p.Met348Leu Single submitter Inborn genetic diseases
  • p.Phe299Leu Single submitter Inborn genetic diseases ⚠
  • p.Phe700Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro1056His Single submitter Inborn genetic diseases
  • p.Pro105Ala Single submitter autosomal recessive proximal renal tubular acidosis ⚠
  • p.Pro241Leu Single submitter autosomal recessive proximal renal tubular acidosis ⚠
  • p.Pro265Leu Single submitter autosomal recessive proximal renal tubular acidosis ⚠
  • p.Pro298Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro772Leu Single submitter autosomal recessive proximal renal tubular acidosis ⚠
  • p.Pro87Ser Single submitter autosomal recessive proximal renal tubular acidosis ⚠
  • p.Pro977Ser Single submitter Inborn genetic diseases ⚠
  • p.Ser178Phe Single submitter Inborn genetic diseases ⚠
  • p.Ser233Asn Single submitter autosomal recessive proximal renal tubular acidosis
  • p.Ser245Gly Single submitter Inborn genetic diseases ⚠
  • p.Ser257Ile Single submitter autosomal recessive proximal renal tubular acidosis ⚠
  • p.Ser399Thr Single submitter Inborn genetic diseases ⚠
  • p.Ser527fs Single submitter autosomal recessive proximal renal tubular acidosis
  • p.Ser590Thr Single submitter autosomal recessive proximal renal tubular acidosis ⚠
  • p.Ser763Arg Single submitter Inborn genetic diseases ⚠
  • p.Thr1071= Single submitter autosomal recessive proximal renal tubular acidosis
  • p.Thr1071Lys Single submitter autosomal recessive proximal renal tubular acidosis ⚠
  • p.Thr239Ser Single submitter Inborn genetic diseases ⚠
  • p.Thr662Pro Single submitter Inborn genetic diseases ⚠
  • p.Thr663Ile Single submitter ⚠
  • p.Thr845Met Single submitter autosomal recessive proximal renal tubular acidosis ⚠
  • p.Thr881Ile Single submitter Inborn genetic diseases ⚠
  • p.Tyr407His Single submitter Inborn genetic diseases
  • p.Val23Ala Single submitter Inborn genetic diseases
  • p.Val27Ala Single submitter Inborn genetic diseases
  • p.Val287Met Single submitter ⚠
  • p.Val289Leu Single submitter ⚠
  • p.Val292Leu Single submitter Inborn genetic diseases ⚠
  • p.Val379Ile Single submitter Inborn genetic diseases ⚠
  • p.Val413Ala Single submitter autosomal recessive proximal renal tubular acidosis ⚠
  • p.Val741Ile Single submitter Inborn genetic diseases ⚠
  • p.Val748Met Single submitter autosomal recessive proximal renal tubular acidosis
  • p.Val770Ile Single submitter Inborn genetic diseases ⚠
  • p.Val770Phe Single submitter autosomal recessive proximal renal tubular acidosis ⚠
  • p.Val984Ala Single submitter autosomal recessive proximal renal tubular acidosis ⚠
  • p.Gly816Arg No assertion criteria ⚠
  • p.Leu886Pro No assertion criteria ⚠
  • p.Thr750Ile No assertion criteria ⚠