GALNT13 — 53 ClinVar variants
All ClinVar germline GALNT13 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 45 flagged for review →
53 Uncertain significance
Full GALNT13 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 45
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 33
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- GALNT13 p.Ala310Thr Uncertain significance Single submitter
- GALNT13 p.Ala348Ser Uncertain significance Single submitter
- GALNT13 p.Ala369Thr Uncertain significance Single submitter
- GALNT13 p.Ala48Gly Uncertain significance Single submitter
- GALNT13 p.Arg141His Uncertain significance Single submitter
- GALNT13 p.Arg185His Uncertain significance Single submitter
- GALNT13 p.Arg190Cys Uncertain significance Single submitter
- GALNT13 p.Arg192His Uncertain significance Single submitter
- GALNT13 p.Arg486Gly Uncertain significance Single submitter
- GALNT13 p.Arg52Lys Uncertain significance Single submitter
- GALNT13 p.Asp208Glu Uncertain significance Single submitter
- GALNT13 p.Asp35Gly Uncertain significance Single submitter
- GALNT13 p.Cys329Tyr Uncertain significance Single submitter
- GALNT13 p.Glu76Asp Uncertain significance Single submitter
- GALNT13 p.Gly489Arg Uncertain significance Single submitter
- GALNT13 p.Gly58Arg Uncertain significance Single submitter
- GALNT13 p.His498Asn Uncertain significance Single submitter
- GALNT13 p.Lys106Arg Uncertain significance Single submitter
- GALNT13 p.Lys8Arg Uncertain significance Single submitter
- GALNT13 p.Met499Val Uncertain significance Single submitter
- GALNT13 p.Pro424Thr Uncertain significance Single submitter
- GALNT13 p.Ser137Asn Uncertain significance Single submitter
- GALNT13 p.Ser411Thr Uncertain significance Single submitter
- GALNT13 p.Thr107Ala Uncertain significance Single submitter
- GALNT13 p.Thr130Ile Uncertain significance Single submitter
- GALNT13 p.Thr205Ile Uncertain significance Single submitter
- GALNT13 p.Thr307Ser Uncertain significance Single submitter
- GALNT13 p.Thr400Ile Uncertain significance Single submitter
- GALNT13 p.Trp17Ser Uncertain significance Single submitter
- GALNT13 p.Val10Ile Uncertain significance Single submitter
- GALNT13 p.Val120Ile Uncertain significance Single submitter
- GALNT13 p.Val170Met Uncertain significance Single submitter
- GALNT13 p.Val491Ile Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- GALNT13 p.Arg265His Uncertain significance Single submitter
- GALNT13 p.Arg281Gly Uncertain significance Single submitter
- GALNT13 p.Arg281Ile Uncertain significance Single submitter
- GALNT13 p.Asn125Asp Uncertain significance Single submitter
- GALNT13 p.Ile455Lys Uncertain significance Single submitter
- GALNT13 p.Leu480Ser Uncertain significance Single submitter
- GALNT13 p.Lys452Glu Uncertain significance Single submitter
- GALNT13 p.Met493Val Uncertain significance Single submitter
- GALNT13 p.Ser527Tyr Uncertain significance Single submitter
- GALNT13 p.Thr231Met Uncertain significance Single submitter
- GALNT13 p.Thr357Ser Uncertain significance Single submitter
- GALNT13 p.Tyr469His Uncertain significance Single submitter
All GALNT13 variants
Uncertain significance 53
- c.142+41082_142+41090dup Single submitter Zimmermann-Laband syndrome 3
- c.142+41089_142+41091dup Single submitter Zimmermann-Laband syndrome 3
- c.142+5G>A Single submitter
- p.Ala310Thr Single submitter ⚠
- p.Ala348Ser Single submitter ⚠
- p.Ala369Thr Single submitter ⚠
- p.Ala48Gly Single submitter ⚠
- p.Arg141His Single submitter ⚠
- p.Arg185His Single submitter ⚠
- p.Arg190Cys Single submitter ⚠
- p.Arg192His Single submitter ⚠
- p.Arg265His Single submitter ⚠
- p.Arg281Gly Single submitter ⚠
- p.Arg281Ile Single submitter ⚠
- p.Arg486Gly Single submitter ⚠
- p.Arg52Lys Single submitter ⚠
- p.Asn125Asp Single submitter ⚠
- p.Asn457Ile Single submitter
- p.Asp208Glu Single submitter ⚠
- p.Asp35Gly Single submitter ⚠
- p.Asp508Val Single submitter
- p.Cys329Tyr Single submitter ⚠
- p.Glu375Val Single submitter
- p.Glu76Asp Single submitter ⚠
- p.Gly358Ser Single submitter
- p.Gly489Arg Single submitter ⚠
- p.Gly58Arg Single submitter ⚠
- p.His498Asn Single submitter ⚠
- p.Ile455Lys Single submitter ⚠
- p.Leu480Ser Single submitter ⚠
- p.Lys106Arg Single submitter ⚠
- p.Lys452Glu Single submitter ⚠
- p.Lys8Arg Single submitter ⚠
- p.Met493Val Single submitter ⚠
- p.Met499Val Single submitter ⚠
- p.Pro424Thr Single submitter ⚠
- p.Ser137Asn Single submitter ⚠
- p.Ser411Thr Single submitter ⚠
- p.Ser527Tyr Single submitter ⚠
- p.Thr107Ala Single submitter ⚠
- p.Thr130Ile Single submitter ⚠
- p.Thr205Ile Single submitter ⚠
- p.Thr231Met Single submitter ⚠
- p.Thr307Ser Single submitter ⚠
- p.Thr357Ser Single submitter ⚠
- p.Thr400Ile Single submitter ⚠
- p.Trp17Ser Single submitter ⚠
- p.Tyr308Ter Single submitter
- p.Tyr469His Single submitter ⚠
- p.Val10Ile Single submitter ⚠
- p.Val120Ile Single submitter ⚠
- p.Val170Met Single submitter ⚠
- p.Val491Ile Single submitter ⚠