GALNT14 — 106 ClinVar variants
All ClinVar germline GALNT14 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 87 flagged for review →
1 Pathogenic · 4 Benign · 6 Likely benign · 95 Uncertain significance
Full GALNT14 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 87
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 67
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- GALNT14 p.Ala190Ser Uncertain significance Single submitter
- GALNT14 p.Ala266Thr Uncertain significance Single submitter
- GALNT14 p.Ala372Ser Uncertain significance Single submitter
- GALNT14 p.Ala47Thr Uncertain significance Single submitter
- GALNT14 p.Ala486Thr Uncertain significance Single submitter
- GALNT14 p.Arg100Ser Uncertain significance Single submitter
- GALNT14 p.Arg132Cys Uncertain significance Single submitter
- GALNT14 p.Arg183Gln Uncertain significance Single submitter
- GALNT14 p.Arg183Trp Uncertain significance Single submitter
- GALNT14 p.Arg267Gln Uncertain significance Single submitter
- GALNT14 p.Arg2Gln Uncertain significance Single submitter
- GALNT14 p.Arg2Pro Uncertain significance Single submitter
- GALNT14 p.Arg315Gln Uncertain significance Single submitter
- GALNT14 p.Arg330Gln Uncertain significance Single submitter
- GALNT14 p.Arg336Gln Uncertain significance Single submitter
- GALNT14 p.Arg374Trp Uncertain significance Single submitter
- GALNT14 p.Arg380Lys Uncertain significance Single submitter
- GALNT14 p.Arg396His Uncertain significance Single submitter
- GALNT14 p.Arg3Leu Uncertain significance Single submitter
- GALNT14 p.Arg427Lys Uncertain significance Single submitter
- GALNT14 p.Arg499Gln Uncertain significance Single submitter
- GALNT14 p.Arg60Gln Uncertain significance Single submitter
- GALNT14 p.Arg60Trp Uncertain significance Single submitter
- GALNT14 p.Asn173Asp Uncertain significance Single submitter
- GALNT14 p.Asn80Ser Uncertain significance Single submitter
- GALNT14 p.Asp288Asn Uncertain significance Single submitter
- GALNT14 p.Asp456Gly Uncertain significance Single submitter
- GALNT14 p.Asp519His Uncertain significance Single submitter
- GALNT14 p.Cys107Tyr Uncertain significance Single submitter
- GALNT14 p.Gln40Arg Uncertain significance Single submitter
- GALNT14 p.Gln428Glu Uncertain significance Single submitter
- GALNT14 p.Gln439His Uncertain significance Single submitter
- GALNT14 p.Glu455Lys Uncertain significance Single submitter
- GALNT14 p.Glu539Gly Uncertain significance Single submitter
- GALNT14 p.Gly383Arg Uncertain significance Single submitter
- GALNT14 p.Gly524Ser Uncertain significance Single submitter
- GALNT14 p.His214Leu Uncertain significance Single submitter
- GALNT14 p.Ile117Thr Uncertain significance Single submitter
- GALNT14 p.Ile146Val Uncertain significance Single submitter
- GALNT14 p.Lys164Glu Uncertain significance Single submitter
- GALNT14 p.Lys393Asn Uncertain significance Single submitter
- GALNT14 p.Lys421Arg Uncertain significance Single submitter
- GALNT14 p.Lys451Arg Uncertain significance Single submitter
- GALNT14 p.Lys531Glu Uncertain significance Single submitter
- GALNT14 p.Lys75Glu Uncertain significance Single submitter
- GALNT14 p.Met543Leu Uncertain significance Single submitter
- GALNT14 p.Met543Val Uncertain significance Single submitter
- GALNT14 p.Met549Ile Uncertain significance Single submitter
- GALNT14 p.Pro211Ala Uncertain significance Single submitter
- GALNT14 p.Pro211Leu Uncertain significance Single submitter
- GALNT14 p.Pro278Ser Uncertain significance Single submitter
- GALNT14 p.Pro42Leu Uncertain significance Single submitter
- GALNT14 p.Ser84Thr Uncertain significance Single submitter
- GALNT14 p.Thr194Ser Uncertain significance Single submitter
- GALNT14 p.Thr221Lys Uncertain significance Single submitter
- GALNT14 p.Thr27Ala Uncertain significance Single submitter
- GALNT14 p.Thr350Met Uncertain significance Single submitter
- GALNT14 p.Thr5Ser Uncertain significance Single submitter
- GALNT14 p.Trp208Leu Uncertain significance Single submitter
- GALNT14 p.Tyr351Cys Uncertain significance Single submitter
- GALNT14 p.Val15Met Uncertain significance Single submitter
- GALNT14 p.Val168Gly Uncertain significance Single submitter
- GALNT14 p.Val342Ile Uncertain significance Single submitter
- GALNT14 p.Val489Ile Uncertain significance Single submitter
- GALNT14 p.Val534Ile Uncertain significance Single submitter
-
GALNT14 p.Ile533Met
Uncertain significance
No assertion criteria
GALNT14-related disorder
-
GALNT14 p.Val461Glu
Uncertain significance
No assertion criteria
GALNT14-related disorder
Predictors split 20
The independent predictors disagree with each other — read with care.
- GALNT14 p.Arg124Cys Uncertain significance Single submitter
- GALNT14 p.Arg185Trp Uncertain significance Single submitter
- GALNT14 p.Arg267Trp Uncertain significance Single submitter
- GALNT14 p.Arg396Cys Uncertain significance Single submitter
- GALNT14 p.Arg68Cys Uncertain significance Single submitter
- GALNT14 p.Asn121Ser Uncertain significance Single submitter
- GALNT14 p.Glu85Gln Uncertain significance Single submitter
- GALNT14 p.Gly70Asp Uncertain significance Single submitter
- GALNT14 p.His98Tyr Uncertain significance Single submitter
- GALNT14 p.Ile230Thr Uncertain significance Single submitter
- GALNT14 p.Ile275Met Uncertain significance Single submitter
- GALNT14 p.Lys401Thr Uncertain significance Single submitter
- GALNT14 p.Pro111Leu Uncertain significance Single submitter
- GALNT14 p.Thr221Met Uncertain significance Single submitter
- GALNT14 p.Thr272Met Uncertain significance Single submitter
- GALNT14 p.Thr355Ala Uncertain significance Single submitter
- GALNT14 p.Tyr106Ser Uncertain significance Single submitter
- GALNT14 p.Tyr294Ser Uncertain significance Single submitter
- GALNT14 p.Val286Met Uncertain significance Single submitter
- GALNT14 p.Val535Phe Uncertain significance Single submitter
All GALNT14 variants
Pathogenic 1
- p.Arg425Ter Single submitter non-immune hydrops fetalis
Benign 4
- c.533-10C>T Multiple submitters
- p.Asp498= Multiple submitters
- p.Leu198= Multiple submitters
- p.Val69Ile Multiple submitters
Likely benign 6
- p.Arg144Gln Single submitter
- p.Arg29Lys Single submitter
- p.Asp390Asn Single submitter
- p.Met300Thr Single submitter
- p.Ser133= Single submitter
- p.Val326Ile No assertion criteria GALNT14-related disorder
Uncertain significance 95
- p.Ala190Ser Single submitter ⚠
- p.Ala266Thr Single submitter ⚠
- p.Ala372Ser Single submitter ⚠
- p.Ala47Thr Single submitter ⚠
- p.Ala486Thr Single submitter ⚠
- p.Arg100Ser Single submitter ⚠
- p.Arg124Cys Single submitter ⚠
- p.Arg124His Single submitter
- p.Arg132Cys Single submitter ⚠
- p.Arg183Gln Single submitter ⚠
- p.Arg183Trp Single submitter ⚠
- p.Arg185Trp Single submitter ⚠
- p.Arg267Gln Single submitter ⚠
- p.Arg267Trp Single submitter ⚠
- p.Arg2Gln Single submitter ⚠
- p.Arg2Pro Single submitter ⚠
- p.Arg315Gln Single submitter ⚠
- p.Arg330Gln Single submitter ⚠
- p.Arg336Gln Single submitter ⚠
- p.Arg374Trp Single submitter ⚠
- p.Arg380Lys Single submitter ⚠
- p.Arg396Cys Single submitter ⚠
- p.Arg396His Single submitter ⚠
- p.Arg3Leu Single submitter ⚠
- p.Arg427Lys Single submitter ⚠
- p.Arg499Gln Single submitter ⚠
- p.Arg60Gln Single submitter ⚠
- p.Arg60Trp Single submitter ⚠
- p.Arg68Cys Single submitter ⚠
- p.Asn121Ser Single submitter ⚠
- p.Asn173Asp Single submitter ⚠
- p.Asn80Ser Single submitter ⚠
- p.Asp158Asn Single submitter
- p.Asp288Asn Single submitter ⚠
- p.Asp456Gly Single submitter ⚠
- p.Asp519His Single submitter ⚠
- p.Cys107Tyr Single submitter ⚠
- p.Gln40Arg Single submitter ⚠
- p.Gln426Glu Single submitter
- p.Gln428Glu Single submitter ⚠
- p.Gln439His Single submitter ⚠
- p.Glu455Lys Single submitter ⚠
- p.Glu539Gly Single submitter ⚠
- p.Glu85Gln Single submitter ⚠
- p.Gly383Arg Single submitter ⚠
- p.Gly524Ser Single submitter ⚠
- p.Gly70Asp Single submitter ⚠
- p.His214Leu Single submitter ⚠
- p.His98Tyr Single submitter ⚠
- p.Ile117Thr Single submitter ⚠
- p.Ile146Val Single submitter ⚠
- p.Ile230Thr Single submitter ⚠
- p.Ile275Met Single submitter ⚠
- p.Leu411Phe Single submitter
- p.Lys164Glu Single submitter ⚠
- p.Lys393Asn Single submitter ⚠
- p.Lys401Thr Single submitter ⚠
- p.Lys421Arg Single submitter ⚠
- p.Lys451Arg Single submitter ⚠
- p.Lys531Glu Single submitter ⚠
- p.Lys75Glu Single submitter ⚠
- p.Met543Leu Single submitter ⚠
- p.Met543Val Single submitter ⚠
- p.Met549Ile Single submitter ⚠
- p.Pro111Leu Single submitter ⚠
- p.Pro211Ala Single submitter ⚠
- p.Pro211Leu Single submitter ⚠
- p.Pro278Ser Single submitter ⚠
- p.Pro42Leu Single submitter ⚠
- p.Ser433Pro Single submitter
- p.Ser84Thr Single submitter ⚠
- p.Thr126Met Single submitter
- p.Thr194Ser Single submitter ⚠
- p.Thr221Lys Single submitter ⚠
- p.Thr221Met Single submitter ⚠
- p.Thr272Met Single submitter ⚠
- p.Thr27Ala Single submitter ⚠
- p.Thr350Met Single submitter ⚠
- p.Thr355Ala Single submitter ⚠
- p.Thr465Lys Single submitter
- p.Thr5Ser Single submitter ⚠
- p.Trp208Leu Single submitter ⚠
- p.Trp49Cys Single submitter
- p.Tyr106Ser Single submitter ⚠
- p.Tyr294Ser Single submitter ⚠
- p.Tyr351Cys Single submitter ⚠
- p.Val15Met Single submitter ⚠
- p.Val168Gly Single submitter ⚠
- p.Val286Met Single submitter ⚠
- p.Val342Ile Single submitter ⚠
- p.Val489Ile Single submitter ⚠
- p.Val534Ile Single submitter ⚠
- p.Val535Phe Single submitter ⚠
- p.Ile533Met No assertion criteria GALNT14-related disorder ⚠
- p.Val461Glu No assertion criteria GALNT14-related disorder ⚠