NIPA1 — 312 ClinVar variants
All ClinVar germline NIPA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 73 flagged for review →
2 Pathogenic · 1 Likely pathogenic · 15 Conflicting · 56 Benign · 4 Benign/Likely benign · 70 Likely benign · 164 Uncertain significance
Full NIPA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 73
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
NIPA1 p.Ala89Val
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 55
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
NIPA1 p.Ala100Val
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 6
-
NIPA1 p.Gly261Arg
Uncertain significance
Multiple submitters
NIPA1-related disorder
-
NIPA1 p.Ile188Val
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 6
-
NIPA1 p.Ile74Met
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 6
-
NIPA1 p.Ile81Thr
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 6
-
NIPA1 p.Met171Leu
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 6
-
NIPA1 p.Ser24Gly
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 6
-
NIPA1 p.Thr299Met
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 6
-
NIPA1 p.Thr88Met
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 6
-
NIPA1 p.Val243Leu
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 6
-
NIPA1 p.Val286Met
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 6
-
NIPA1 p.Val310Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- NIPA1 p.Ala100Thr Uncertain significance Single submitter
- NIPA1 p.Ala262Val Uncertain significance Single submitter
-
NIPA1 p.Ala4Val
Uncertain significance
Single submitter
hereditary spastic paraplegia
-
NIPA1 p.Ala5Val
Uncertain significance
Single submitter
hereditary spastic paraplegia 6
-
NIPA1 p.Ala7Val
Uncertain significance
Single submitter
hereditary spastic paraplegia 6
-
NIPA1 p.Asn220Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
NIPA1 p.Asn285Asp
Uncertain significance
Single submitter
hereditary spastic paraplegia 6
-
NIPA1 p.Gln214His
Uncertain significance
Single submitter
hereditary spastic paraplegia 6
- NIPA1 p.Gly184Arg Uncertain significance Single submitter
-
NIPA1 p.Gly238Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
NIPA1 p.Ile108Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
NIPA1 p.Ile137Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
NIPA1 p.Ile167Val
Uncertain significance
Single submitter
hereditary spastic paraplegia 6
-
NIPA1 p.Ile216Val
Uncertain significance
Single submitter
hereditary spastic paraplegia 6
-
NIPA1 p.Ile242Met
Uncertain significance
Single submitter
hereditary spastic paraplegia 6
- NIPA1 p.Ile278Met Uncertain significance Single submitter
-
NIPA1 p.Leu118Phe
Uncertain significance
Single submitter
hereditary spastic paraplegia 6
-
NIPA1 p.Leu234Pro
Uncertain significance
Single submitter
hereditary spastic paraplegia 6
-
NIPA1 p.Leu307Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
NIPA1 p.Leu64Val
Uncertain significance
Single submitter
Inborn genetic diseases
- NIPA1 p.Leu85Pro Uncertain significance Single submitter
- NIPA1 p.Lys207Arg Uncertain significance Single submitter
-
NIPA1 p.Lys250Gln
Uncertain significance
Single submitter
hereditary spastic paraplegia 6
-
NIPA1 p.Lys312Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
NIPA1 p.Met321Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- NIPA1 p.Phe161Leu Uncertain significance Single submitter
-
NIPA1 p.Phe268Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
NIPA1 p.Pro221Leu
Uncertain significance
Single submitter
hereditary spastic paraplegia 6
-
NIPA1 p.Ser143Ala
Uncertain significance
Single submitter
hereditary spastic paraplegia 6
-
NIPA1 p.Ser193Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
NIPA1 p.Ser44Ala
Uncertain significance
Single submitter
hereditary spastic paraplegia 6
-
NIPA1 p.Thr147Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- NIPA1 p.Thr157Ile Uncertain significance Single submitter
-
NIPA1 p.Thr269Ile
Uncertain significance
Single submitter
hereditary spastic paraplegia 6
- NIPA1 p.Tyr112Cys Uncertain significance Single submitter
-
NIPA1 p.Val134Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
NIPA1 p.Val236Met
Uncertain significance
Single submitter
hereditary spastic paraplegia 6
-
NIPA1 p.Val266Asp
Uncertain significance
Single submitter
hereditary spastic paraplegia 6
-
NIPA1 p.Val266Ile
Uncertain significance
Single submitter
hereditary spastic paraplegia 6
-
NIPA1 p.Val301Ile
Uncertain significance
Single submitter
hereditary spastic paraplegia 6
-
NIPA1 p.Val36Phe
Uncertain significance
Single submitter
hereditary spastic paraplegia 6
-
NIPA1 p.Val54Met
Uncertain significance
Single submitter
hereditary spastic paraplegia 6
- NIPA1 p.Met171Val Uncertain significance No assertion criteria
Predictors split 17
The independent predictors disagree with each other — read with care.
-
NIPA1 p.Phe291Leu
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 6
-
NIPA1 p.Ala11Gly
Uncertain significance
Single submitter
hereditary spastic paraplegia 6
-
NIPA1 p.Ala12Pro
Uncertain significance
Single submitter
hereditary spastic paraplegia 6
-
NIPA1 p.Ala14Thr
Uncertain significance
Single submitter
hereditary spastic paraplegia 6
-
NIPA1 p.Ala6Glu
Uncertain significance
Single submitter
hereditary spastic paraplegia 6
-
NIPA1 p.Ala7Thr
Uncertain significance
Single submitter
hereditary spastic paraplegia 6
- NIPA1 p.Asn249Ser Uncertain significance Single submitter
-
NIPA1 p.Gln244Arg
Pathogenic
Single submitter
hereditary spastic paraplegia 6
-
NIPA1 p.Gly52Ser
Uncertain significance
Single submitter
hereditary spastic paraplegia 6
-
NIPA1 p.Met76Ile
Uncertain significance
Single submitter
hereditary spastic paraplegia 6
-
NIPA1 p.Met76Thr
Uncertain significance
Single submitter
hereditary spastic paraplegia 6
-
NIPA1 p.Met76Val
Uncertain significance
Single submitter
hereditary spastic paraplegia 6
- NIPA1 p.Phe105Leu Uncertain significance Single submitter
-
NIPA1 p.Pro104Leu
Uncertain significance
Single submitter
hereditary spastic paraplegia 6
-
NIPA1 p.Ser107Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
NIPA1 p.Thr202Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
NIPA1 p.Thr73Pro
Uncertain significance
Single submitter
hereditary spastic paraplegia 6
All NIPA1 variants
Pathogenic 2
- p.Gly106Arg Multiple submitters hereditary spastic paraplegia 6
- p.Gln244Arg Single submitter hereditary spastic paraplegia 6 ⚠
Likely pathogenic 1
- p.Asn83Lys Single submitter NIPA1-related disorder
Conflicting classifications of pathogenicity 15
- c.179-9T>C Single submitter hereditary spastic paraplegia 6
- c.318-8C>G Single submitter hereditary spastic paraplegia 6
- c.479-7G>T Single submitter hereditary spastic paraplegia 6
- c.*2070A>C Single submitter hereditary spastic paraplegia 6
- c.*5185C>T Single submitter hereditary spastic paraplegia 6
- p.Ala11_Ala16del Single submitter hereditary spastic paraplegia 6
- p.Ala251= Single submitter hereditary spastic paraplegia 6
- p.Ala89= Single submitter hereditary spastic paraplegia 6
- p.Ala89Val Single submitter Inborn genetic diseases ⚠
- p.Ile74= Single submitter hereditary spastic paraplegia 6
- p.Leu227= Single submitter hereditary spastic paraplegia
- p.Phe105= Single submitter hereditary spastic paraplegia 6
- p.Pro104= Single submitter hereditary spastic paraplegia 6
- p.Val135Met Single submitter hereditary spastic paraplegia 6
- p.Val266= Single submitter hereditary spastic paraplegia
Benign 56
- c.226+163C>T Multiple submitters
- c.227-93C>T Multiple submitters
- c.318-68A>G Multiple submitters
- c.478+154C>T Multiple submitters
- c.479-29C>T Multiple submitters
- c.-359C>G Multiple submitters
- c.*1127C>G Multiple submitters hereditary spastic paraplegia 6
- c.*1563C>T Multiple submitters hereditary spastic paraplegia 6
- c.*1724C>G Multiple submitters hereditary spastic paraplegia 6
- c.*1927A>G Multiple submitters hereditary spastic paraplegia 6
- c.*1974C>A Multiple submitters hereditary spastic paraplegia 6
- c.*1981A>G Multiple submitters hereditary spastic paraplegia 6
- c.*2425A>G Multiple submitters hereditary spastic paraplegia 6
- c.*2515G>C Multiple submitters hereditary spastic paraplegia 6
- c.*287T>C Multiple submitters hereditary spastic paraplegia 6
- c.*3702C>T Multiple submitters hereditary spastic paraplegia 6
- c.*4933C>T Multiple submitters hereditary spastic paraplegia 6
- c.*972C>T Multiple submitters hereditary spastic paraplegia 6
- p.Thr147= Multiple submitters hereditary spastic paraplegia
- c.179-17dup Single submitter hereditary spastic paraplegia 6
- c.317+190C>G Single submitter
- c.317+216T>C Single submitter
- c.478+232_478+237del Single submitter
- c.479-239C>T Single submitter
- c.-48+200del Single submitter
- c.*1012A>G Single submitter hereditary spastic paraplegia 6
- c.*1146T>C Single submitter hereditary spastic paraplegia 6
- c.*1395C>T Single submitter hereditary spastic paraplegia 6
- c.*1405G>C Single submitter hereditary spastic paraplegia 6
- c.*2469A>G Single submitter hereditary spastic paraplegia 6
- c.*2649A>G Single submitter hereditary spastic paraplegia 6
- c.*2780G>T Single submitter hereditary spastic paraplegia 6
- c.*3278C>G Single submitter hereditary spastic paraplegia 6
- c.*3393A>T Single submitter hereditary spastic paraplegia 6
- c.*3400C>T Single submitter hereditary spastic paraplegia 6
- c.*3480C>T Single submitter hereditary spastic paraplegia 6
- c.*3590A>G Single submitter hereditary spastic paraplegia 6
- c.*3872T>G Single submitter hereditary spastic paraplegia 6
- c.*3910G>A Single submitter hereditary spastic paraplegia 6
- c.*4218G>A Single submitter hereditary spastic paraplegia 6
- c.*4363C>T Single submitter hereditary spastic paraplegia 6
- c.*4510T>C Single submitter hereditary spastic paraplegia 6
- c.*4716G>A Single submitter hereditary spastic paraplegia 6
- c.*4734G>C Single submitter hereditary spastic paraplegia 6
- c.*4774G>A Single submitter hereditary spastic paraplegia 6
- c.*4792G>T Single submitter hereditary spastic paraplegia 6
- c.*4885T>C Single submitter hereditary spastic paraplegia 6
- c.*4964G>A Single submitter hereditary spastic paraplegia 6
- c.*5044G>C Single submitter hereditary spastic paraplegia 6
- c.*5071C>T Single submitter hereditary spastic paraplegia 6
- c.*5237G>C Single submitter hereditary spastic paraplegia 6
- c.*5299G>C Single submitter hereditary spastic paraplegia 6
- c.*5331T>G Single submitter hereditary spastic paraplegia 6
- p.Ala15_Ala16dup Single submitter hereditary spastic paraplegia 6
- p.Leu170Val Single submitter hereditary spastic paraplegia 6
- p.Thr92= Single submitter
Benign/Likely benign 4
- c.*11G>C Multiple submitters hereditary spastic paraplegia 6
- p.Ala16del Multiple submitters hereditary spastic paraplegia 6
- p.Ile179= Multiple submitters hereditary spastic paraplegia 6
- p.Ser302= Multiple submitters hereditary spastic paraplegia 6
Likely benign 70
- c.317+13A>G Multiple submitters hereditary spastic paraplegia 6
- p.Ala150Ser Multiple submitters hereditary spastic paraplegia 6
- p.Glu253= Multiple submitters hereditary spastic paraplegia 6
- p.Leu113= Multiple submitters
- p.Leu175= Multiple submitters hereditary spastic paraplegia 6
- p.Ser258= Multiple submitters hereditary spastic paraplegia 6
- p.Thr157= Multiple submitters hereditary spastic paraplegia 6
- p.Thr270= Multiple submitters hereditary spastic paraplegia 6
- c.178+52C>T Single submitter
- c.179-11A>C Single submitter hereditary spastic paraplegia 6
- c.179-212G>C Single submitter
- c.179-4A>G Single submitter hereditary spastic paraplegia 6
- c.179-50C>T Single submitter
- c.226+19G>A Single submitter hereditary spastic paraplegia 6
- c.227-5G>C Single submitter hereditary spastic paraplegia 6
- c.317+198A>G Single submitter
- c.317+274C>G Single submitter
- c.318-12T>G Single submitter hereditary spastic paraplegia 6
- c.318-15C>T Single submitter
- c.478+220C>T Single submitter
- c.479-11C>T Single submitter hereditary spastic paraplegia 6
- c.479-20G>C Single submitter hereditary spastic paraplegia 6
- c.479-278T>C Single submitter
- c.479-7G>A Single submitter hereditary spastic paraplegia 6
- c.479-9G>A Single submitter hereditary spastic paraplegia 6
- c.-48+114G>C Single submitter
- c.*1336_*1340del Single submitter
- c.*2781G>T Single submitter hereditary spastic paraplegia 6
- c.*3118_*3127del Single submitter
- c.*3127G>A Single submitter
- c.*4156A>G Single submitter hereditary spastic paraplegia 6
- c.*4496A>T Single submitter hereditary spastic paraplegia 6
- p.Ala15= Single submitter hereditary spastic paraplegia 6
- p.Ala180= Single submitter
- p.Ala235= Single submitter hereditary spastic paraplegia 6
- p.Ala6= Single submitter hereditary spastic paraplegia 6
- p.Asn42= Single submitter hereditary spastic paraplegia 6
- p.Asp256= Single submitter hereditary spastic paraplegia 6
- p.Glu144= Single submitter hereditary spastic paraplegia 6
- p.Gly2= Single submitter hereditary spastic paraplegia 6
- p.Gly72= Single submitter hereditary spastic paraplegia 6
- p.His139= Single submitter hereditary spastic paraplegia 6
- p.His183= Single submitter hereditary spastic paraplegia 6
- p.Ile108= Single submitter hereditary spastic paraplegia 6
- p.Ile137= Single submitter hereditary spastic paraplegia 6
- p.Ile167= Single submitter hereditary spastic paraplegia 6
- p.Ile209= Single submitter
- p.Ile242= Single submitter hereditary spastic paraplegia 6
- p.Leu128= Single submitter
- p.Leu234= Single submitter hereditary spastic paraplegia 6
- p.Leu237= Single submitter hereditary spastic paraplegia 6
- p.Leu279= Single submitter hereditary spastic paraplegia 6
- p.Leu288= Single submitter hereditary spastic paraplegia 6
- p.Leu307= Single submitter hereditary spastic paraplegia 6
- p.Leu318Phe Single submitter hereditary spastic paraplegia 6
- p.Leu98= Single submitter hereditary spastic paraplegia 6
- p.Phe255= Single submitter hereditary spastic paraplegia 6
- p.Phe298= Single submitter hereditary spastic paraplegia 6
- p.Pro97= Single submitter hereditary spastic paraplegia 6
- p.Ser133= Single submitter hereditary spastic paraplegia 6
- p.Thr202= Single submitter hereditary spastic paraplegia 6
- p.Thr299= Single submitter
- p.Thr65= Single submitter hereditary spastic paraplegia 6
- p.Thr88= Single submitter hereditary spastic paraplegia 6
- p.Tyr191= Single submitter hereditary spastic paraplegia 6
- p.Tyr265= Single submitter hereditary spastic paraplegia 6
- p.Val160= Single submitter hereditary spastic paraplegia 6
- p.Val267= Single submitter hereditary spastic paraplegia 6
- p.Val68= Single submitter hereditary spastic paraplegia 6
- c.*4G>A No assertion criteria NIPA1-related disorder
Uncertain significance 164
- c.*548A>C Multiple submitters hereditary spastic paraplegia 6
- p.Ala100Val Multiple submitters hereditary spastic paraplegia 6 ⚠
- p.Arg281Trp Multiple submitters hereditary spastic paraplegia 6
- p.Gly261Arg Multiple submitters NIPA1-related disorder ⚠
- p.Ile188Val Multiple submitters hereditary spastic paraplegia 6 ⚠
- p.Ile74Met Multiple submitters hereditary spastic paraplegia 6 ⚠
- p.Ile81Thr Multiple submitters hereditary spastic paraplegia 6 ⚠
- p.Leu98Met Multiple submitters hereditary spastic paraplegia 6
- p.Met171Leu Multiple submitters hereditary spastic paraplegia 6 ⚠
- p.Phe291Leu Multiple submitters hereditary spastic paraplegia 6 ⚠
- p.Ser24Gly Multiple submitters hereditary spastic paraplegia 6 ⚠
- p.Ser258Leu Multiple submitters
- p.Thr299Met Multiple submitters hereditary spastic paraplegia 6 ⚠
- p.Thr88Met Multiple submitters hereditary spastic paraplegia 6 ⚠
- p.Thr92Met Multiple submitters hereditary spastic paraplegia 6
- p.Val168Met Multiple submitters Inborn genetic diseases
- p.Val243Leu Multiple submitters hereditary spastic paraplegia 6 ⚠
- p.Val286Met Multiple submitters hereditary spastic paraplegia 6 ⚠
- p.Val310Met Multiple submitters Inborn genetic diseases ⚠
- c.179-5T>C Single submitter hereditary spastic paraplegia 6
- c.318-6A>G Single submitter hereditary spastic paraplegia 6
- c.479-14T>A Single submitter hereditary spastic paraplegia 6
- c.*1115C>T Single submitter hereditary spastic paraplegia 6
- c.*1176T>C Single submitter hereditary spastic paraplegia 6
- c.*1277A>C Single submitter hereditary spastic paraplegia 6
- c.*1330G>A Single submitter hereditary spastic paraplegia 6
- c.*138G>A Single submitter hereditary spastic paraplegia 6
- c.*1529C>T Single submitter hereditary spastic paraplegia 6
- c.*1703C>T Single submitter hereditary spastic paraplegia 6
- c.*1750C>G Single submitter hereditary spastic paraplegia 6
- c.*1788G>A Single submitter hereditary spastic paraplegia 6
- c.*1860G>A Single submitter hereditary spastic paraplegia 6
- c.*2015G>C Single submitter hereditary spastic paraplegia 6
- c.*201A>G Single submitter hereditary spastic paraplegia 6
- c.*2020C>T Single submitter hereditary spastic paraplegia 6
- c.*2079T>G Single submitter hereditary spastic paraplegia 6
- c.*2106T>C Single submitter hereditary spastic paraplegia 6
- c.*2112A>G Single submitter hereditary spastic paraplegia 6
- c.*2148C>A Single submitter hereditary spastic paraplegia 6
- c.*2209T>C Single submitter hereditary spastic paraplegia 6
- c.*2246G>A Single submitter hereditary spastic paraplegia 6
- c.*2375A>G Single submitter hereditary spastic paraplegia 6
- c.*2398A>G Single submitter hereditary spastic paraplegia 6
- c.*2405A>G Single submitter hereditary spastic paraplegia 6
- c.*2465C>G Single submitter hereditary spastic paraplegia 6
- c.*2497G>T Single submitter hereditary spastic paraplegia 6
- c.*2543C>G Single submitter hereditary spastic paraplegia 6
- c.*2685T>C Single submitter hereditary spastic paraplegia 6
- c.*2723A>C Single submitter hereditary spastic paraplegia 6
- c.*2942G>A Single submitter hereditary spastic paraplegia 6
- c.*2949C>G Single submitter hereditary spastic paraplegia 6
- c.*3008C>T Single submitter hereditary spastic paraplegia 6
- c.*3110C>T Single submitter hereditary spastic paraplegia 6
- c.*3126C>T Single submitter hereditary spastic paraplegia 6
- c.*3169A>G Single submitter hereditary spastic paraplegia 6
- c.*3280A>G Single submitter hereditary spastic paraplegia 6
- c.*3462A>G Single submitter hereditary spastic paraplegia 6
- c.*3703T>G Single submitter hereditary spastic paraplegia 6
- c.*3705C>T Single submitter hereditary spastic paraplegia 6
- c.*3707G>C Single submitter hereditary spastic paraplegia 6
- c.*37A>T Single submitter hereditary spastic paraplegia 6
- c.*3823G>A Single submitter hereditary spastic paraplegia 6
- c.*3838G>A Single submitter hereditary spastic paraplegia 6
- c.*3848C>T Single submitter hereditary spastic paraplegia 6
- c.*3885C>T Single submitter hereditary spastic paraplegia 6
- c.*3924T>C Single submitter hereditary spastic paraplegia 6
- c.*4003G>A Single submitter hereditary spastic paraplegia 6
- c.*4043A>G Single submitter hereditary spastic paraplegia 6
- c.*4147C>T Single submitter hereditary spastic paraplegia 6
- c.*414C>T Single submitter hereditary spastic paraplegia 6
- c.*4199A>G Single submitter hereditary spastic paraplegia 6
- c.*4519T>C Single submitter hereditary spastic paraplegia 6
- c.*4656G>A Single submitter hereditary spastic paraplegia 6
- c.*4677G>A Single submitter hereditary spastic paraplegia 6
- c.*4690C>A Single submitter hereditary spastic paraplegia 6
- c.*4870T>G Single submitter hereditary spastic paraplegia 6
- c.*4895A>G Single submitter hereditary spastic paraplegia 6
- c.*4914G>T Single submitter hereditary spastic paraplegia 6
- c.*519T>A Single submitter hereditary spastic paraplegia 6
- c.*5258G>A Single submitter hereditary spastic paraplegia 6
- c.*531T>G Single submitter hereditary spastic paraplegia 6
- c.*5362A>G Single submitter hereditary spastic paraplegia 6
- c.*5430T>G Single submitter hereditary spastic paraplegia 6
- c.*553C>A Single submitter hereditary spastic paraplegia 6
- c.*57G>A Single submitter hereditary spastic paraplegia 6
- c.*647A>G Single submitter hereditary spastic paraplegia 6
- c.*652A>G Single submitter hereditary spastic paraplegia 6
- c.*709G>A Single submitter hereditary spastic paraplegia 6
- c.*780G>A Single submitter hereditary spastic paraplegia 6
- c.*886C>T Single submitter hereditary spastic paraplegia 6
- c.*976C>T Single submitter hereditary spastic paraplegia 6
- p.Ala100Thr Single submitter ⚠
- p.Ala11Gly Single submitter hereditary spastic paraplegia 6 ⚠
- p.Ala12_Ala16del Single submitter hereditary spastic paraplegia 6
- p.Ala12Pro Single submitter hereditary spastic paraplegia 6 ⚠
- p.Ala13_Ala16dup Single submitter hereditary spastic paraplegia 6
- p.Ala14_Ala16del Single submitter hereditary spastic paraplegia 6
- p.Ala14Thr Single submitter hereditary spastic paraplegia 6 ⚠
- p.Ala15_Ala16del Single submitter hereditary spastic paraplegia 6
- p.Ala212= Single submitter hereditary spastic paraplegia
- p.Ala262Val Single submitter ⚠
- p.Ala4Val Single submitter hereditary spastic paraplegia ⚠
- p.Ala5Val Single submitter hereditary spastic paraplegia 6 ⚠
- p.Ala6Glu Single submitter hereditary spastic paraplegia 6 ⚠
- p.Ala7Thr Single submitter hereditary spastic paraplegia 6 ⚠
- p.Ala7Val Single submitter hereditary spastic paraplegia 6 ⚠
- p.Ala86Gly Single submitter hereditary spastic paraplegia 6
- p.Asn187Asp Single submitter Inborn genetic diseases
- p.Asn220Ser Single submitter Inborn genetic diseases ⚠
- p.Asn249Ser Single submitter ⚠
- p.Asn285Asp Single submitter hereditary spastic paraplegia 6 ⚠
- p.Asp256Asn Single submitter Inborn genetic diseases
- p.Gln214His Single submitter hereditary spastic paraplegia 6 ⚠
- p.Gly184Arg Single submitter ⚠
- p.Gly208fs Single submitter
- p.Gly238Ser Single submitter Inborn genetic diseases ⚠
- p.Gly52Ser Single submitter hereditary spastic paraplegia 6 ⚠
- p.Ile108Val Single submitter Inborn genetic diseases ⚠
- p.Ile137Val Single submitter Inborn genetic diseases ⚠
- p.Ile167Val Single submitter hereditary spastic paraplegia 6 ⚠
- p.Ile216Val Single submitter hereditary spastic paraplegia 6 ⚠
- p.Ile242Met Single submitter hereditary spastic paraplegia 6 ⚠
- p.Ile278Met Single submitter ⚠
- p.Leu118Phe Single submitter hereditary spastic paraplegia 6 ⚠
- p.Leu234Pro Single submitter hereditary spastic paraplegia 6 ⚠
- p.Leu237Val Single submitter Inborn genetic diseases
- p.Leu307Arg Single submitter Inborn genetic diseases ⚠
- p.Leu64Val Single submitter Inborn genetic diseases ⚠
- p.Leu85Pro Single submitter ⚠
- p.Lys207Arg Single submitter ⚠
- p.Lys250Gln Single submitter hereditary spastic paraplegia 6 ⚠
- p.Lys312Arg Single submitter Inborn genetic diseases ⚠
- p.Met1Val Single submitter hereditary spastic paraplegia 6
- p.Met321Leu Single submitter Inborn genetic diseases ⚠
- p.Met76Ile Single submitter hereditary spastic paraplegia 6 ⚠
- p.Met76Thr Single submitter hereditary spastic paraplegia 6 ⚠
- p.Met76Val Single submitter hereditary spastic paraplegia 6 ⚠
- p.Phe105Leu Single submitter ⚠
- p.Phe161Leu Single submitter ⚠
- p.Phe268Ile Single submitter Inborn genetic diseases ⚠
- p.Pro104Leu Single submitter hereditary spastic paraplegia 6 ⚠
- p.Pro159= Single submitter hereditary spastic paraplegia 6
- p.Pro221Leu Single submitter hereditary spastic paraplegia 6 ⚠
- p.Ser107Tyr Single submitter Inborn genetic diseases ⚠
- p.Ser143Ala Single submitter hereditary spastic paraplegia 6 ⚠
- p.Ser193Gly Single submitter Inborn genetic diseases ⚠
- p.Ser44Ala Single submitter hereditary spastic paraplegia 6 ⚠
- p.Thr147Ile Single submitter Inborn genetic diseases ⚠
- p.Thr147Met Single submitter hereditary spastic paraplegia 6
- p.Thr148_Gln149insProThr Single submitter
- p.Thr157Ile Single submitter ⚠
- p.Thr202Asn Single submitter Inborn genetic diseases ⚠
- p.Thr269Ile Single submitter hereditary spastic paraplegia 6 ⚠
- p.Thr73Pro Single submitter hereditary spastic paraplegia 6 ⚠
- p.Tyr112Cys Single submitter ⚠
- p.Val134Ile Single submitter Inborn genetic diseases ⚠
- p.Val236Met Single submitter hereditary spastic paraplegia 6 ⚠
- p.Val266Asp Single submitter hereditary spastic paraplegia 6 ⚠
- p.Val266Ile Single submitter hereditary spastic paraplegia 6 ⚠
- p.Val301Ile Single submitter hereditary spastic paraplegia 6 ⚠
- p.Val303Leu Single submitter hereditary spastic paraplegia 6
- p.Val36Phe Single submitter hereditary spastic paraplegia 6 ⚠
- p.Val54Met Single submitter hereditary spastic paraplegia 6 ⚠
- p.Met171Val No assertion criteria ⚠