SLC26A6 — 146 ClinVar variants
All ClinVar germline SLC26A6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 109 flagged for review →
11 Benign · 18 Likely benign · 117 Uncertain significance
Full SLC26A6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 109
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 lean, ClinVar uncertain 83
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SLC26A6 p.Ala179Thr Uncertain significance Single submitter
- SLC26A6 p.Ala270Pro Uncertain significance Single submitter
- SLC26A6 p.Ala271Pro Uncertain significance Single submitter
- SLC26A6 p.Ala328Val Uncertain significance Single submitter
- SLC26A6 p.Ala357Val Uncertain significance Single submitter
- SLC26A6 p.Ala367Thr Uncertain significance Single submitter
- SLC26A6 p.Ala382Thr Uncertain significance Single submitter
- SLC26A6 p.Ala443Glu Uncertain significance Single submitter
- SLC26A6 p.Ala446Val Uncertain significance Single submitter
- SLC26A6 p.Ala469Pro Uncertain significance Single submitter
- SLC26A6 p.Ala496Val Uncertain significance Single submitter
- SLC26A6 p.Ala69Ser Uncertain significance Single submitter
- SLC26A6 p.Ala707Val Uncertain significance Single submitter
- SLC26A6 p.Arg140Gln Uncertain significance Single submitter
- SLC26A6 p.Arg25Trp Uncertain significance Single submitter
- SLC26A6 p.Arg27Gln Uncertain significance Single submitter
- SLC26A6 p.Arg373Leu Uncertain significance Single submitter
- SLC26A6 p.Arg46Cys Uncertain significance Single submitter
- SLC26A6 p.Arg538Gln Uncertain significance Single submitter
- SLC26A6 p.Arg64Cys Uncertain significance Single submitter
- SLC26A6 p.Asn377Lys Uncertain significance Single submitter
- SLC26A6 p.Asn624Ser Uncertain significance Single submitter
- SLC26A6 p.Asp521Glu Uncertain significance Single submitter
- SLC26A6 p.Asp654Asn Uncertain significance Single submitter
- SLC26A6 p.Asp751Asn Uncertain significance Single submitter
- SLC26A6 p.Gln225His Uncertain significance Single submitter
- SLC26A6 p.Gln289Leu Uncertain significance Single submitter
- SLC26A6 p.Gln585Arg Uncertain significance Single submitter
- SLC26A6 p.Gln744Arg Uncertain significance Single submitter
- SLC26A6 p.Glu159Gln Uncertain significance Single submitter
- SLC26A6 p.Glu435Lys Uncertain significance Single submitter
- SLC26A6 p.Glu584Lys Uncertain significance Single submitter
- SLC26A6 p.Gly297Arg Uncertain significance Single submitter
- SLC26A6 p.Gly390Arg Uncertain significance Single submitter
- SLC26A6 p.Gly655Glu Uncertain significance Single submitter
- SLC26A6 p.His316Gln Uncertain significance Single submitter
- SLC26A6 p.His512Gln Uncertain significance Single submitter
- SLC26A6 p.His745Asn Uncertain significance Single submitter
- SLC26A6 p.Ile365Met Uncertain significance Single submitter
- SLC26A6 p.Ile449Val Uncertain significance Single submitter
- SLC26A6 p.Leu193Phe Uncertain significance Single submitter
- SLC26A6 p.Leu3Gln Uncertain significance Single submitter
- SLC26A6 p.Leu3Pro Uncertain significance Single submitter
- SLC26A6 p.Leu588Met Uncertain significance Single submitter
- SLC26A6 p.Met150Ile Uncertain significance Single submitter
- SLC26A6 p.Met153Val Uncertain significance Single submitter
- SLC26A6 p.Met312Ile Uncertain significance Single submitter
- SLC26A6 p.Met456Ile Uncertain significance Single submitter
- SLC26A6 p.Met463Thr Uncertain significance Single submitter
- SLC26A6 p.Met631Thr Uncertain significance Single submitter
- SLC26A6 p.Phe556Ser Uncertain significance Single submitter
- SLC26A6 p.Phe571Leu Uncertain significance Single submitter
- SLC26A6 p.Phe696Leu Uncertain significance Single submitter
- SLC26A6 p.Pro118His Uncertain significance Single submitter
- SLC26A6 p.Pro129Ser Uncertain significance Single submitter
- SLC26A6 p.Pro750His Uncertain significance Single submitter
- SLC26A6 p.Ser139Phe Uncertain significance Single submitter
- SLC26A6 p.Ser211Leu Uncertain significance Single submitter
- SLC26A6 p.Ser532Leu Uncertain significance Single submitter
- SLC26A6 p.Ser574Tyr Uncertain significance Single submitter
- SLC26A6 p.Ser710Arg Uncertain significance Single submitter
- SLC26A6 p.Ser752Asn Uncertain significance Single submitter
- SLC26A6 p.Thr220Ile Uncertain significance Single submitter
- SLC26A6 p.Tyr233Cys Uncertain significance Single submitter
- SLC26A6 p.Tyr68Cys Uncertain significance Single submitter
- SLC26A6 p.Val152Gly Uncertain significance Single submitter
- SLC26A6 p.Val224Leu Uncertain significance Single submitter
- SLC26A6 p.Val228Ile Uncertain significance Single submitter
- SLC26A6 p.Val267Ala Uncertain significance Single submitter
- SLC26A6 p.Val267Met Uncertain significance Single submitter
- SLC26A6 p.Val268Ile Uncertain significance Single submitter
- SLC26A6 p.Val272Leu Uncertain significance Single submitter
- SLC26A6 p.Val272Met Uncertain significance Single submitter
- SLC26A6 p.Val278Met Uncertain significance Single submitter
- SLC26A6 p.Val280Leu Uncertain significance Single submitter
- SLC26A6 p.Val345Met Uncertain significance Single submitter
- SLC26A6 p.Val713Phe Uncertain significance Single submitter
- SLC26A6 p.Val79Ile Uncertain significance Single submitter
- SLC26A6 p.Gly122Asp Uncertain significance No assertion criteria
- SLC26A6 p.His694Leu Uncertain significance No assertion criteria
- SLC26A6 p.Leu237Ile Uncertain significance No assertion criteria
- SLC26A6 p.Phe551Leu Uncertain significance No assertion criteria
- SLC26A6 p.Ser514Phe Uncertain significance No assertion criteria
Predictors split 26
The independent predictors disagree with each other — read with care.
- SLC26A6 p.Ala222Val Uncertain significance Single submitter
- SLC26A6 p.Arg507Gln Uncertain significance Single submitter
- SLC26A6 p.Arg64His Likely benign Single submitter
- SLC26A6 p.Arg87Cys Uncertain significance Single submitter
- SLC26A6 p.Asn167Lys Uncertain significance Single submitter
- SLC26A6 p.Asn377Ser Uncertain significance Single submitter
- SLC26A6 p.Asn387Ser Uncertain significance Single submitter
- SLC26A6 p.Asn553Ser Uncertain significance Single submitter
- SLC26A6 p.Asp462Asn Uncertain significance Single submitter
- SLC26A6 p.Asp568Val Uncertain significance Single submitter
- SLC26A6 p.Gly204Asp Uncertain significance Single submitter
- SLC26A6 p.Gly346Asp Uncertain significance Single submitter
- SLC26A6 p.Leu487Met Uncertain significance Single submitter
- SLC26A6 p.Leu580Phe Uncertain significance Single submitter
- SLC26A6 p.Phe136Leu Uncertain significance Single submitter
- SLC26A6 p.Phe203Leu Uncertain significance Single submitter
- SLC26A6 p.Pro294Leu Uncertain significance Single submitter
- SLC26A6 p.Pro333Ala Uncertain significance Single submitter
- SLC26A6 p.Pro333Leu Uncertain significance Single submitter
- SLC26A6 p.Pro664Thr Uncertain significance Single submitter
- SLC26A6 p.Thr138Ser Uncertain significance Single submitter
- SLC26A6 p.Thr58Ile Uncertain significance Single submitter
- SLC26A6 p.Val183Met Uncertain significance Single submitter
- SLC26A6 p.Val280Gly Uncertain significance Single submitter
- SLC26A6 p.Arg544His Uncertain significance No assertion criteria
- SLC26A6 p.Val228Leu Uncertain significance No assertion criteria
All SLC26A6 variants
Benign 11
- c.1134+32C>A Multiple submitters
- c.1135-17G>C Multiple submitters
- c.1599+152T>C Multiple submitters
- c.183-4C>A Multiple submitters
- c.1894-41C>T Multiple submitters
- c.2074-51C>G Multiple submitters
- c.585+30C>T Multiple submitters
- p.Asp637Asn Multiple submitters
- p.Val206Met Multiple submitters
- c.23+78_23+110del Single submitter
- p.Gly606= Single submitter
Likely benign 18
- p.Ala165Thr Single submitter
- p.Ala472Val Single submitter
- p.Arg46His Single submitter
- p.Arg471= Single submitter
- p.Arg538Pro Single submitter
- p.Arg598Gln Single submitter
- p.Arg64His Single submitter ⚠
- p.Arg83Gln Single submitter
- p.Asn337Ser Single submitter
- p.Asn645Ser Single submitter
- p.Leu388Phe Single submitter
- p.Pro106= Single submitter
- p.Ser461Thr Single submitter
- p.Ser755Leu Single submitter
- p.Thr301Met Single submitter
- p.Thr615= Single submitter
- p.Val549Met Single submitter
- p.Val79Ala Single submitter
Uncertain significance 117
- c.1693-3_1697del Single submitter Hyperoxaluria
- p.Ala179Thr Single submitter ⚠
- p.Ala222Val Single submitter ⚠
- p.Ala270Pro Single submitter ⚠
- p.Ala271Pro Single submitter ⚠
- p.Ala328Val Single submitter ⚠
- p.Ala357Val Single submitter ⚠
- p.Ala367Thr Single submitter ⚠
- p.Ala382Thr Single submitter ⚠
- p.Ala443Glu Single submitter ⚠
- p.Ala446Val Single submitter ⚠
- p.Ala469Pro Single submitter ⚠
- p.Ala496Val Single submitter ⚠
- p.Ala69Ser Single submitter ⚠
- p.Ala707Val Single submitter ⚠
- p.Arg140Gln Single submitter ⚠
- p.Arg25Trp Single submitter ⚠
- p.Arg27Gln Single submitter ⚠
- p.Arg373Leu Single submitter ⚠
- p.Arg46Cys Single submitter ⚠
- p.Arg507Gln Single submitter ⚠
- p.Arg538Gln Single submitter ⚠
- p.Arg64Cys Single submitter ⚠
- p.Arg87Cys Single submitter ⚠
- p.Asn167Lys Single submitter ⚠
- p.Asn377Lys Single submitter ⚠
- p.Asn377Ser Single submitter ⚠
- p.Asn387Ser Single submitter ⚠
- p.Asn553Ser Single submitter ⚠
- p.Asn624Ser Single submitter ⚠
- p.Asp462Asn Single submitter ⚠
- p.Asp521Glu Single submitter ⚠
- p.Asp568Val Single submitter ⚠
- p.Asp654Asn Single submitter ⚠
- p.Asp751Asn Single submitter ⚠
- p.Gln225His Single submitter ⚠
- p.Gln289Leu Single submitter ⚠
- p.Gln585Arg Single submitter ⚠
- p.Gln715His Single submitter
- p.Gln744Arg Single submitter ⚠
- p.Glu159Gln Single submitter ⚠
- p.Glu435Lys Single submitter ⚠
- p.Glu584Lys Single submitter ⚠
- p.Gly204Asp Single submitter ⚠
- p.Gly297Arg Single submitter ⚠
- p.Gly346Asp Single submitter ⚠
- p.Gly390Arg Single submitter ⚠
- p.Gly655Glu Single submitter ⚠
- p.His316Gln Single submitter ⚠
- p.His512Gln Single submitter ⚠
- p.His736Tyr Single submitter
- p.His745Asn Single submitter ⚠
- p.Ile365Met Single submitter ⚠
- p.Ile449Val Single submitter ⚠
- p.Leu193Phe Single submitter ⚠
- p.Leu3Gln Single submitter ⚠
- p.Leu3Pro Single submitter ⚠
- p.Leu487Met Single submitter ⚠
- p.Leu580Phe Single submitter ⚠
- p.Leu588Met Single submitter ⚠
- p.Met150Ile Single submitter ⚠
- p.Met153Val Single submitter ⚠
- p.Met312Ile Single submitter ⚠
- p.Met456Ile Single submitter ⚠
- p.Met463Thr Single submitter ⚠
- p.Met631Thr Single submitter ⚠
- p.Phe136Leu Single submitter ⚠
- p.Phe203Leu Single submitter ⚠
- p.Phe556Ser Single submitter ⚠
- p.Phe571Leu Single submitter ⚠
- p.Phe696Leu Single submitter ⚠
- p.Pro118His Single submitter ⚠
- p.Pro129Ser Single submitter ⚠
- p.Pro294Leu Single submitter ⚠
- p.Pro333Ala Single submitter ⚠
- p.Pro333Leu Single submitter ⚠
- p.Pro664Thr Single submitter ⚠
- p.Pro750His Single submitter ⚠
- p.Ser139Phe Single submitter ⚠
- p.Ser211Leu Single submitter ⚠
- p.Ser532Leu Single submitter ⚠
- p.Ser574Tyr Single submitter ⚠
- p.Ser710Arg Single submitter ⚠
- p.Ser752Asn Single submitter ⚠
- p.Thr138Ser Single submitter ⚠
- p.Thr186Ile Single submitter
- p.Thr220Ile Single submitter ⚠
- p.Thr58Ile Single submitter ⚠
- p.Tyr233Cys Single submitter ⚠
- p.Tyr68Cys Single submitter ⚠
- p.Val152Gly Single submitter ⚠
- p.Val183Met Single submitter ⚠
- p.Val224Leu Single submitter ⚠
- p.Val228Ile Single submitter ⚠
- p.Val267Ala Single submitter ⚠
- p.Val267Met Single submitter ⚠
- p.Val268Ile Single submitter ⚠
- p.Val272Leu Single submitter ⚠
- p.Val272Met Single submitter ⚠
- p.Val278Met Single submitter ⚠
- p.Val280Gly Single submitter ⚠
- p.Val280Leu Single submitter ⚠
- p.Val320Leu Single submitter
- p.Val345Met Single submitter ⚠
- p.Val398Met Single submitter
- p.Val713Phe Single submitter ⚠
- p.Val79Ile Single submitter ⚠
- p.Arg544His No assertion criteria ⚠
- p.Gly122Asp No assertion criteria ⚠
- p.His694Leu No assertion criteria ⚠
- p.Leu237Ile No assertion criteria ⚠
- p.Phe551Leu No assertion criteria ⚠
- p.Ser514Phe No assertion criteria ⚠
- p.Ser634= No assertion criteria
- p.Thr522= No assertion criteria
- p.Val228Leu No assertion criteria ⚠
- p.Val540Leu No assertion criteria