SLC14A1 — 64 ClinVar variants
All ClinVar germline SLC14A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 42 flagged for review →
3 Pathogenic · 2 Likely pathogenic · 10 Benign · 6 Likely benign · 43 Uncertain significance
Full SLC14A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 42
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 37
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SLC14A1 p.Asn373Ile Uncertain significance Multiple submitters
- SLC14A1 p.Ala118Thr Uncertain significance Single submitter
- SLC14A1 p.Ala190Gly Uncertain significance Single submitter
- SLC14A1 p.Ala46Asp Uncertain significance Single submitter
- SLC14A1 p.Arg114Gly Uncertain significance Single submitter
- SLC14A1 p.Asn20Tyr Uncertain significance Single submitter
- SLC14A1 p.Asp51Glu Uncertain significance Single submitter
- SLC14A1 p.Cys257Phe Uncertain significance Single submitter
- SLC14A1 p.Gln21Arg Uncertain significance Single submitter
- SLC14A1 p.Gln21Lys Uncertain significance Single submitter
- SLC14A1 p.Gln88His Uncertain significance Single submitter
- SLC14A1 p.Glu371Lys Uncertain significance Single submitter
- SLC14A1 p.Gly123Ala Uncertain significance Single submitter
- SLC14A1 p.Gly243Cys Uncertain significance Single submitter
- SLC14A1 p.Ile206Lys Uncertain significance Single submitter
- SLC14A1 p.Ile206Thr Uncertain significance Single submitter
- SLC14A1 p.Ile212Ser Uncertain significance Single submitter
- SLC14A1 p.Ile262Thr Uncertain significance Single submitter
- SLC14A1 p.Ile81Val Uncertain significance Single submitter
- SLC14A1 p.Leu105Val Uncertain significance Single submitter
- SLC14A1 p.Leu121Phe Uncertain significance Single submitter
- SLC14A1 p.Leu310Phe Uncertain significance Single submitter
- SLC14A1 p.Leu347Val Uncertain significance Single submitter
- SLC14A1 p.Leu348Phe Uncertain significance Single submitter
- SLC14A1 p.Leu80Met Uncertain significance Single submitter
- SLC14A1 p.Met133Ile Uncertain significance Single submitter
- SLC14A1 p.Met153Thr Uncertain significance Single submitter
- SLC14A1 p.Met153Val Uncertain significance Single submitter
- SLC14A1 p.Met167Ile Uncertain significance Single submitter
- SLC14A1 p.Met167Thr Uncertain significance Single submitter
- SLC14A1 p.Met297Thr Uncertain significance Single submitter
- SLC14A1 p.Phe143Cys Uncertain significance Single submitter
- SLC14A1 p.Phe283Tyr Uncertain significance Single submitter
- SLC14A1 p.Ser185Leu Uncertain significance Single submitter
- SLC14A1 p.Trp145Cys Uncertain significance Single submitter
- SLC14A1 p.Trp240Arg Uncertain significance Single submitter
- SLC14A1 p.Tyr360His Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All SLC14A1 variants
Pathogenic 3
- c.663+1G>T No assertion criteria Jk-null variant
- c.-21-131_341+571del No assertion criteria Jk-null variant
- p.Ser291Pro No assertion criteria Jk-null variant, finnish type ⚠
Likely pathogenic 2
- c.342-1G>A Single submitter SLC14A1-related disorder
- p.Asn89fs Single submitter SLC14A1-related disorder
Benign 10
- p.Val101= Multiple submitters
- p.Val10Met Multiple submitters
- p.Val76Ile Multiple submitters
- p.Ala134= Single submitter
- p.Asp280Asn Single submitter
- p.Trp171Arg Single submitter ⚠
- c.-22+2268C>T No assertion criteria SLC14A1-related disorder
- c.-22+2360C>A No assertion criteria SLC14A1-related disorder
- p.Glu44Lys No assertion criteria SLC14A1-related disorder
- p.Pro196= No assertion criteria SLC14A1-related disorder
Likely benign 6
- c.470+12T>C Single submitter
- p.Ile117Thr Single submitter ⚠
- p.Ile206Val Single submitter
- p.Ile212Val Single submitter
- p.Met352Val Single submitter
- c.471-10_471-8del No assertion criteria SLC14A1-related disorder
Uncertain significance 43
- p.Asn373Ile Multiple submitters ⚠
- p.Ala118Thr Single submitter ⚠
- p.Ala190Gly Single submitter ⚠
- p.Ala248Thr Single submitter
- p.Ala46Asp Single submitter ⚠
- p.Arg114Gly Single submitter ⚠
- p.Arg374His Single submitter ⚠
- p.Asn20Tyr Single submitter ⚠
- p.Asn73Lys Single submitter
- p.Asp51Glu Single submitter ⚠
- p.Cys257Phe Single submitter ⚠
- p.Gln21Arg Single submitter ⚠
- p.Gln21Lys Single submitter ⚠
- p.Gln88His Single submitter ⚠
- p.Glu371Lys Single submitter ⚠
- p.Gly123Ala Single submitter ⚠
- p.Gly243Cys Single submitter ⚠
- p.Gly247Arg Single submitter ⚠
- p.Gly96Val Single submitter
- p.Ile206Lys Single submitter ⚠
- p.Ile206Thr Single submitter ⚠
- p.Ile212Ser Single submitter ⚠
- p.Ile262Thr Single submitter ⚠
- p.Ile81Val Single submitter ⚠
- p.Leu105Val Single submitter ⚠
- p.Leu121Phe Single submitter ⚠
- p.Leu310Phe Single submitter ⚠
- p.Leu347Val Single submitter ⚠
- p.Leu348Phe Single submitter ⚠
- p.Leu80Met Single submitter ⚠
- p.Met133Ile Single submitter ⚠
- p.Met153Thr Single submitter ⚠
- p.Met153Val Single submitter ⚠
- p.Met167Ile Single submitter ⚠
- p.Met167Thr Single submitter ⚠
- p.Met297Thr Single submitter ⚠
- p.Phe143Cys Single submitter ⚠
- p.Phe283Tyr Single submitter ⚠
- p.Ser185Leu Single submitter ⚠
- p.Trp145Cys Single submitter ⚠
- p.Trp240Arg Single submitter ⚠
- p.Tyr360His Single submitter ⚠
- p.Lys170fs No assertion criteria BLOOD GROUP, KIDD SYSTEM