GAL — 68 ClinVar variants
All ClinVar germline GAL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 34 flagged for review →
1 Pathogenic · 5 Benign · 18 Likely benign · 44 Uncertain significance
Full GAL gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 34
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 29
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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GAL p.Ala10Thr
Uncertain significance
Multiple submitters
familial temporal lobe epilepsy 8
-
GAL p.Ala15Thr
Uncertain significance
Multiple submitters
familial temporal lobe epilepsy 8
- GAL p.Arg52Gly Uncertain significance Multiple submitters
-
GAL p.Arg67Trp
Uncertain significance
Multiple submitters
familial temporal lobe epilepsy 8
-
GAL p.Arg88His
Uncertain significance
Multiple submitters
familial temporal lobe epilepsy 8
-
GAL p.Asp106Asn
Uncertain significance
Multiple submitters
familial temporal lobe epilepsy 8
-
GAL p.Asp106His
Uncertain significance
Multiple submitters
familial temporal lobe epilepsy 8
-
GAL p.Glu69Lys
Uncertain significance
Multiple submitters
familial temporal lobe epilepsy 8
-
GAL p.Leu60Phe
Uncertain significance
Multiple submitters
familial temporal lobe epilepsy 8
-
GAL p.Ser123Phe
Uncertain significance
Multiple submitters
familial temporal lobe epilepsy 8
-
GAL p.Ser26Leu
Uncertain significance
Multiple submitters
familial temporal lobe epilepsy 8
-
GAL p.Ser5Gly
Uncertain significance
Multiple submitters
familial temporal lobe epilepsy 8
-
GAL p.Ala104Val
Uncertain significance
Single submitter
familial temporal lobe epilepsy 8
-
GAL p.Ala113Thr
Uncertain significance
Single submitter
familial temporal lobe epilepsy 8
-
GAL p.Ala114Thr
Uncertain significance
Single submitter
familial temporal lobe epilepsy 8
- GAL p.Ala28Thr Uncertain significance Single submitter
- GAL p.Arg107Leu Uncertain significance Single submitter
-
GAL p.Arg122Gln
Uncertain significance
Single submitter
familial temporal lobe epilepsy 8
-
GAL p.Arg64Gln
Uncertain significance
Single submitter
familial temporal lobe epilepsy 8
-
GAL p.Arg67Pro
Uncertain significance
Single submitter
familial temporal lobe epilepsy 8
-
GAL p.Arg88Leu
Uncertain significance
Single submitter
familial temporal lobe epilepsy 8
-
GAL p.Asp56Asn
Uncertain significance
Single submitter
familial temporal lobe epilepsy 8
- GAL p.Gly4Asp Uncertain significance Single submitter
- GAL p.Ile91Met Uncertain significance Single submitter
-
GAL p.Leu13Phe
Uncertain significance
Single submitter
familial temporal lobe epilepsy 8
-
GAL p.Met72Ile
Uncertain significance
Single submitter
familial temporal lobe epilepsy 8
-
GAL p.Pro112Arg
Uncertain significance
Single submitter
familial temporal lobe epilepsy 8
-
GAL p.Pro68Ser
Uncertain significance
Single submitter
familial temporal lobe epilepsy 8
-
GAL p.Ser19Pro
Uncertain significance
Single submitter
familial temporal lobe epilepsy 8
Predictors split 5
The independent predictors disagree with each other — read with care.
- GAL p.Gly103Ser Uncertain significance Single submitter
-
GAL p.Lys31Glu
Uncertain significance
Single submitter
familial temporal lobe epilepsy 8
- GAL p.Pro45Leu Uncertain significance Single submitter
-
GAL p.Thr35Ser
Uncertain significance
Single submitter
familial temporal lobe epilepsy 8
-
GAL p.Ala39Glu
Pathogenic
No assertion criteria
familial temporal lobe epilepsy 8
All GAL variants
Pathogenic 1
- p.Ala39Glu No assertion criteria familial temporal lobe epilepsy 8 ⚠
Benign 5
- c.301+16T>C Multiple submitters familial temporal lobe epilepsy 8
- c.*15T>C Multiple submitters familial temporal lobe epilepsy 8
- p.Ala16Val Multiple submitters familial temporal lobe epilepsy 8
- p.Arg122Trp Single submitter familial temporal lobe epilepsy 8
- p.Glu121Lys Single submitter familial temporal lobe epilepsy 8
Likely benign 18
- p.Ala102= Multiple submitters familial temporal lobe epilepsy 8
- p.Ala22= Multiple submitters familial temporal lobe epilepsy 8
- p.Asn85Asp Multiple submitters familial temporal lobe epilepsy 8
- c.136+15_136+17del Single submitter
- c.81+8C>T Single submitter familial temporal lobe epilepsy 8
- c.82-6T>C Single submitter
- p.Ala113= Single submitter familial temporal lobe epilepsy 8
- p.Ala47= Single submitter familial temporal lobe epilepsy 8
- p.Arg3= Single submitter familial temporal lobe epilepsy 8
- p.Gly103= Single submitter familial temporal lobe epilepsy 8
- p.Gly49= Single submitter familial temporal lobe epilepsy 8
- p.Gly59= Single submitter familial temporal lobe epilepsy 8
- p.Leu105= Single submitter
- p.Leu14= Single submitter familial temporal lobe epilepsy 8
- p.Leu36= Single submitter familial temporal lobe epilepsy 8
- p.Met72Val Single submitter
- p.Pro68= Single submitter
- p.Val48Ile Single submitter familial temporal lobe epilepsy 8
Uncertain significance 44
- p.Ala10Thr Multiple submitters familial temporal lobe epilepsy 8 ⚠
- p.Ala15Thr Multiple submitters familial temporal lobe epilepsy 8 ⚠
- p.Arg52Gly Multiple submitters ⚠
- p.Arg67Trp Multiple submitters familial temporal lobe epilepsy 8 ⚠
- p.Arg88His Multiple submitters familial temporal lobe epilepsy 8 ⚠
- p.Asp106Asn Multiple submitters familial temporal lobe epilepsy 8 ⚠
- p.Asp106His Multiple submitters familial temporal lobe epilepsy 8 ⚠
- p.Glu69Lys Multiple submitters familial temporal lobe epilepsy 8 ⚠
- p.Leu60Phe Multiple submitters familial temporal lobe epilepsy 8 ⚠
- p.Ser123Phe Multiple submitters familial temporal lobe epilepsy 8 ⚠
- p.Ser26Leu Multiple submitters familial temporal lobe epilepsy 8 ⚠
- p.Ser5Gly Multiple submitters familial temporal lobe epilepsy 8 ⚠
- c.137-2A>G Single submitter familial temporal lobe epilepsy 8
- c.223+3G>A Single submitter familial temporal lobe epilepsy 8
- c.223+3G>C Single submitter familial temporal lobe epilepsy 8
- c.73_81+37del Single submitter familial temporal lobe epilepsy 8
- c.81+12G>A Single submitter familial temporal lobe epilepsy 8
- c.81+2T>A Single submitter
- c.*15_*16inv Single submitter
- p.Ala104Val Single submitter familial temporal lobe epilepsy 8 ⚠
- p.Ala113Thr Single submitter familial temporal lobe epilepsy 8 ⚠
- p.Ala114Thr Single submitter familial temporal lobe epilepsy 8 ⚠
- p.Ala28Thr Single submitter ⚠
- p.Ala47Val Single submitter familial temporal lobe epilepsy 8
- p.Arg107Leu Single submitter ⚠
- p.Arg122Gln Single submitter familial temporal lobe epilepsy 8 ⚠
- p.Arg3Ter Single submitter familial temporal lobe epilepsy 8
- p.Arg64Gln Single submitter familial temporal lobe epilepsy 8 ⚠
- p.Arg67Pro Single submitter familial temporal lobe epilepsy 8 ⚠
- p.Arg88Leu Single submitter familial temporal lobe epilepsy 8 ⚠
- p.Asp56Asn Single submitter familial temporal lobe epilepsy 8 ⚠
- p.Gly103Ser Single submitter ⚠
- p.Gly4Asp Single submitter ⚠
- p.Ile91Met Single submitter ⚠
- p.Leu13Phe Single submitter familial temporal lobe epilepsy 8 ⚠
- p.Leu97Phe Single submitter
- p.Lys31Glu Single submitter familial temporal lobe epilepsy 8 ⚠
- p.Met72Ile Single submitter familial temporal lobe epilepsy 8 ⚠
- p.Pro112Arg Single submitter familial temporal lobe epilepsy 8 ⚠
- p.Pro27= Single submitter
- p.Pro45Leu Single submitter ⚠
- p.Pro68Ser Single submitter familial temporal lobe epilepsy 8 ⚠
- p.Ser19Pro Single submitter familial temporal lobe epilepsy 8 ⚠
- p.Thr35Ser Single submitter familial temporal lobe epilepsy 8 ⚠