ZFR — 294 ClinVar variants
All ClinVar germline ZFR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 139 flagged for review →
2 Conflicting · 10 Benign · 1 Benign/Likely benign · 123 Likely benign · 158 Uncertain significance
Full ZFR gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 139
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 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
ZFR p.Ala517Thr
Conflicting
Single submitter
Pure or complex autosomal recessive spastic paraplegia
-
ZFR p.Met466Val
Conflicting
Single submitter
Pure or complex autosomal recessive spastic paraplegia
Predictors lean, ClinVar uncertain 108
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
ZFR p.Ala833Gly
Uncertain significance
Multiple submitters
Pure or complex autosomal recessive spastic paraplegia
-
ZFR p.Arg669Lys
Uncertain significance
Multiple submitters
Pure or complex autosomal recessive spastic paraplegia
-
ZFR p.Arg681His
Uncertain significance
Multiple submitters
Pure or complex autosomal recessive spastic paraplegia
-
ZFR p.Arg915Lys
Uncertain significance
Multiple submitters
Pure or complex autosomal recessive spastic paraplegia
-
ZFR p.Ile1026Val
Uncertain significance
Multiple submitters
Pure or complex autosomal recessive spastic paraplegia
-
ZFR p.Lys830Glu
Uncertain significance
Multiple submitters
Pure or complex autosomal recessive spastic paraplegia
-
ZFR p.Met1038Ile
Uncertain significance
Multiple submitters
Pure or complex autosomal recessive spastic paraplegia
-
ZFR p.Met1038Val
Uncertain significance
Multiple submitters
Pure or complex autosomal recessive spastic paraplegia
-
ZFR p.Ser250Gly
Uncertain significance
Multiple submitters
Pure or complex autosomal recessive spastic paraplegia
-
ZFR p.Ser847Thr
Uncertain significance
Multiple submitters
Pure or complex autosomal recessive spastic paraplegia
-
ZFR p.Ser855Ala
Uncertain significance
Multiple submitters
Pure or complex autosomal recessive spastic paraplegia
-
ZFR p.Thr864Ser
Uncertain significance
Multiple submitters
Pure or complex autosomal recessive spastic paraplegia
-
ZFR p.Tyr1071His
Uncertain significance
Multiple submitters
Pure or complex autosomal recessive spastic paraplegia
-
ZFR p.Val234Ile
Uncertain significance
Multiple submitters
Pure or complex autosomal recessive spastic paraplegia
- ZFR p.Ala1000Thr Uncertain significance Single submitter
-
ZFR p.Ala174Ser
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
- ZFR p.Ala198Thr Uncertain significance Single submitter
- ZFR p.Ala204Gly Uncertain significance Single submitter
- ZFR p.Ala37Val Uncertain significance Single submitter
-
ZFR p.Ala41Thr
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
-
ZFR p.Ala450Ser
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
- ZFR p.Ala462Ser Uncertain significance Single submitter
-
ZFR p.Ala849Thr
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
- ZFR p.Ala85Thr Uncertain significance Single submitter
- ZFR p.Ala909Thr Uncertain significance Single submitter
- ZFR p.Arg1007His Uncertain significance Single submitter
- ZFR p.Arg123Lys Uncertain significance Single submitter
- ZFR p.Arg717Cys Uncertain significance Single submitter
- ZFR p.Arg718His Uncertain significance Single submitter
- ZFR p.Arg823His Uncertain significance Single submitter
-
ZFR p.Arg927His
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
- ZFR p.Asn367Asp Uncertain significance Single submitter
- ZFR p.Asn453Ser Uncertain significance Single submitter
- ZFR p.Asn453Thr Uncertain significance Single submitter
- ZFR p.Asn515Ser Uncertain significance Single submitter
- ZFR p.Asn876Asp Uncertain significance Single submitter
- ZFR p.Asp1053Glu Uncertain significance Single submitter
- ZFR p.Asp543Glu Uncertain significance Single submitter
- ZFR p.Asp782Glu Uncertain significance Single submitter
-
ZFR p.Asp994Val
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
- ZFR p.Gln176His Uncertain significance Single submitter
- ZFR p.Gln430Lys Uncertain significance Single submitter
-
ZFR p.Gln558Pro
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
- ZFR p.Gln709Arg Uncertain significance Single submitter
- ZFR p.Gln862Arg Uncertain significance Single submitter
-
ZFR p.Glu518Gly
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
- ZFR p.Glu778Gly Uncertain significance Single submitter
-
ZFR p.Glu858Lys
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
- ZFR p.Gly473Glu Uncertain significance Single submitter
-
ZFR p.His1045Gln
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
-
ZFR p.His691Pro
Uncertain significance
Single submitter
hereditary spastic paraplegia
-
ZFR p.His765Leu
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
- ZFR p.Ile213Val Uncertain significance Single submitter
- ZFR p.Ile851Val Uncertain significance Single submitter
-
ZFR p.Ile865Val
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
-
ZFR p.Leu1021Arg
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
-
ZFR p.Leu789Trp
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
- ZFR p.Leu799Phe Uncertain significance Single submitter
-
ZFR p.Leu808Phe
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
-
ZFR p.Lys1028Arg
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
-
ZFR p.Met1032Thr
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
- ZFR p.Met1038Leu Uncertain significance Single submitter
-
ZFR p.Met466Thr
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
-
ZFR p.Met492Thr
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
- ZFR p.Met684Ile Uncertain significance Single submitter
-
ZFR p.Met706Ile
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
- ZFR p.Pro164Ser Uncertain significance Single submitter
-
ZFR p.Pro179Ser
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
-
ZFR p.Pro442Leu
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
-
ZFR p.Pro446His
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
- ZFR p.Pro538Leu Uncertain significance Single submitter
- ZFR p.Pro551Ser Uncertain significance Single submitter
- ZFR p.Pro694Ser Uncertain significance Single submitter
-
ZFR p.Pro707Thr
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
-
ZFR p.Pro713Leu
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
-
ZFR p.Pro870Ser
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
- ZFR p.Ser1012Thr Uncertain significance Single submitter
- ZFR p.Ser1013Arg Uncertain significance Single submitter
-
ZFR p.Ser34Gly
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
-
ZFR p.Ser434Leu
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
- ZFR p.Ser448Asn Uncertain significance Single submitter
-
ZFR p.Ser448Gly
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
-
ZFR p.Ser486Leu
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
- ZFR p.Ser722Pro Uncertain significance Single submitter
-
ZFR p.Ser761Gly
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
-
ZFR p.Ser822Arg
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
- ZFR p.Ser944Gly Uncertain significance Single submitter
- ZFR p.Ser976Phe Uncertain significance Single submitter
- ZFR p.Thr116Ala Uncertain significance Single submitter
- ZFR p.Thr167Ala Uncertain significance Single submitter
-
ZFR p.Thr248Ala
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
-
ZFR p.Thr256Ala
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
-
ZFR p.Thr375Ala
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
-
ZFR p.Thr463Ala
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
-
ZFR p.Thr463Met
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
-
ZFR p.Thr483Ala
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
- ZFR p.Thr497Ile Uncertain significance Single submitter
-
ZFR p.Thr513Ala
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
-
ZFR p.Thr733Ala
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
- ZFR p.Tyr1071Asp Uncertain significance Single submitter
-
ZFR p.Tyr155Cys
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
-
ZFR p.Tyr667Cys
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
-
ZFR p.Tyr840Cys
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
-
ZFR p.Val230Ile
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
-
ZFR p.Val461Phe
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
-
ZFR p.Val505Ile
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
-
ZFR p.Val545Gly
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
-
ZFR p.Val572Ile
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
Predictors split 29
The independent predictors disagree with each other — read with care.
-
ZFR p.Asn595Ser
Uncertain significance
Multiple submitters
Pure or complex autosomal recessive spastic paraplegia
-
ZFR p.Tyr662His
Uncertain significance
Multiple submitters
Pure or complex autosomal recessive spastic paraplegia
- ZFR p.Ala628Thr Uncertain significance Single submitter
- ZFR p.Arg376His Uncertain significance Single submitter
- ZFR p.Arg656Thr Uncertain significance Single submitter
-
ZFR p.Asp889Glu
Uncertain significance
Single submitter
intellectual disability
- ZFR p.Glu879Lys Uncertain significance Single submitter
-
ZFR p.Gly507Asp
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
-
ZFR p.Gly880Glu
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
-
ZFR p.His33Asp
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
-
ZFR p.Leu988Pro
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
- ZFR p.Lys501Gln Uncertain significance Single submitter
-
ZFR p.Lys860Glu
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
- ZFR p.Met1002Ile Uncertain significance Single submitter
-
ZFR p.Phe314Ser
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
-
ZFR p.Phe504Ile
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
-
ZFR p.Pro1036Leu
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
-
ZFR p.Pro1036Ser
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
-
ZFR p.Pro1036Thr
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
- ZFR p.Pro696Gln Uncertain significance Single submitter
-
ZFR p.Ser374Cys
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
- ZFR p.Thr211Ile Uncertain significance Single submitter
- ZFR p.Thr819Arg Uncertain significance Single submitter
-
ZFR p.Tyr145His
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
- ZFR p.Tyr260Asp Uncertain significance Single submitter
- ZFR p.Val561Met Uncertain significance Single submitter
- ZFR p.Val61Leu Uncertain significance Single submitter
-
ZFR p.Val89Ala
Uncertain significance
Single submitter
Pure or complex autosomal recessive spastic paraplegia
- ZFR p.Leu319Pro Uncertain significance No assertion criteria
All ZFR variants
Conflicting classifications of pathogenicity 2
- p.Ala517Thr Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Met466Val Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
Benign 10
- c.1032+8C>T Multiple submitters Pure or complex autosomal recessive spastic paraplegia
- c.2835+11C>T Multiple submitters Pure or complex autosomal recessive spastic paraplegia
- p.Asp803= Multiple submitters Pure or complex autosomal recessive spastic paraplegia
- p.Glu651= Multiple submitters Pure or complex autosomal recessive spastic paraplegia
- p.Ile520Thr Multiple submitters Pure or complex autosomal recessive spastic paraplegia
- p.Val461Ile Multiple submitters Pure or complex autosomal recessive spastic paraplegia
- c.137+11C>T Single submitter Pure or complex autosomal recessive spastic paraplegia
- c.2835+16C>T Single submitter Pure or complex autosomal recessive spastic paraplegia
- c.38-15T>G Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Gln178= Single submitter Pure or complex autosomal recessive spastic paraplegia
Benign/Likely benign 1
- c.1713+6T>C Multiple submitters Pure or complex autosomal recessive spastic paraplegia
Likely benign 123
- c.1032+11T>C Single submitter Pure or complex autosomal recessive spastic paraplegia
- c.1032+9G>A Single submitter Pure or complex autosomal recessive spastic paraplegia
- c.1033-16T>G Single submitter Pure or complex autosomal recessive spastic paraplegia
- c.1033-6A>C Single submitter Pure or complex autosomal recessive spastic paraplegia
- c.1225-19G>A Single submitter Pure or complex autosomal recessive spastic paraplegia
- c.137+14G>A Single submitter Pure or complex autosomal recessive spastic paraplegia
- c.137+15C>T Single submitter Pure or complex autosomal recessive spastic paraplegia
- c.137+16C>T Single submitter Pure or complex autosomal recessive spastic paraplegia
- c.137+18del Single submitter Pure or complex autosomal recessive spastic paraplegia
- c.137+18T>A Single submitter Pure or complex autosomal recessive spastic paraplegia
- c.137+19C>T Single submitter Pure or complex autosomal recessive spastic paraplegia
- c.138-7A>G Single submitter Pure or complex autosomal recessive spastic paraplegia
- c.1517-19C>T Single submitter Pure or complex autosomal recessive spastic paraplegia
- c.1713+8A>G Single submitter Pure or complex autosomal recessive spastic paraplegia
- c.1714-5C>T Single submitter Pure or complex autosomal recessive spastic paraplegia
- c.1833+19A>T Single submitter Pure or complex autosomal recessive spastic paraplegia
- c.1834-11T>C Single submitter Pure or complex autosomal recessive spastic paraplegia
- c.1834-19G>A Single submitter Pure or complex autosomal recessive spastic paraplegia
- c.1979+17T>C Single submitter Pure or complex autosomal recessive spastic paraplegia
- c.1980-17C>T Single submitter Pure or complex autosomal recessive spastic paraplegia
- c.2142+11A>T Single submitter Pure or complex autosomal recessive spastic paraplegia
- c.2142+13G>A Single submitter Pure or complex autosomal recessive spastic paraplegia
- c.2348+7T>C Single submitter Pure or complex autosomal recessive spastic paraplegia
- c.2349-10T>G Single submitter Pure or complex autosomal recessive spastic paraplegia
- c.2349-12A>G Single submitter Pure or complex autosomal recessive spastic paraplegia
- c.2499+11T>C Single submitter Pure or complex autosomal recessive spastic paraplegia
- c.2499+15A>G Single submitter Pure or complex autosomal recessive spastic paraplegia
- c.2500-13C>T Single submitter Pure or complex autosomal recessive spastic paraplegia
- c.2500-17T>C Single submitter Pure or complex autosomal recessive spastic paraplegia
- c.2500-20T>G Single submitter Pure or complex autosomal recessive spastic paraplegia
- c.2740-10T>C Single submitter Pure or complex autosomal recessive spastic paraplegia
- c.2835+13T>C Single submitter Pure or complex autosomal recessive spastic paraplegia
- c.2835+8G>A Single submitter Pure or complex autosomal recessive spastic paraplegia
- c.2947+14T>C Single submitter Pure or complex autosomal recessive spastic paraplegia
- c.2947+14T>G Single submitter Pure or complex autosomal recessive spastic paraplegia
- c.2948-20C>T Single submitter Pure or complex autosomal recessive spastic paraplegia
- c.2948-4G>A Single submitter Pure or complex autosomal recessive spastic paraplegia
- c.2948-8T>G Single submitter Pure or complex autosomal recessive spastic paraplegia
- c.3045+9A>G Single submitter Pure or complex autosomal recessive spastic paraplegia
- c.3046-15CT[2] Single submitter Pure or complex autosomal recessive spastic paraplegia
- c.3046-20T>A Single submitter Pure or complex autosomal recessive spastic paraplegia
- c.3046-8T>C Single submitter Pure or complex autosomal recessive spastic paraplegia
- c.3046-9_3046-8del Single submitter Pure or complex autosomal recessive spastic paraplegia
- c.38-5C>T Single submitter Pure or complex autosomal recessive spastic paraplegia
- c.38-8C>T Single submitter Pure or complex autosomal recessive spastic paraplegia
- c.421-13dup Single submitter Pure or complex autosomal recessive spastic paraplegia
- c.421-9T>G Single submitter Pure or complex autosomal recessive spastic paraplegia
- c.565+16C>T Single submitter Pure or complex autosomal recessive spastic paraplegia
- c.565+8T>G Single submitter Pure or complex autosomal recessive spastic paraplegia
- c.566-9C>T Single submitter Pure or complex autosomal recessive spastic paraplegia
- c.784+18T>G Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Ala103= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Ala170= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Ala173= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Ala240= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Ala294= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Ala295= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Ala361= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Ala37= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Ala462= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Ala69= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Asn1047= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Asn805= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Asp1053= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Asp519= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Asp892= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Cys387= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Cys587= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Gln1006= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Gln122= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Gln284= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Gln286= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Gln366= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Gln430= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Gln44= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Gln632= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Gln675= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Glu778= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Gly773= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Gly779= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Ile1010= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Ile330= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Ile338= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Ile750= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Leu1020= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Leu17= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Leu319= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Leu362= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Pro1036= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Pro220= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Pro229= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Pro425= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Pro442= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Ser142= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Ser266= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Ser475= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Ser884= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Thr165= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Thr211= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Thr242= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Thr32= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Thr463= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Thr470Met Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Thr490= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Thr499= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Thr544= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Thr60= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Thr819= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Thr883= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Thr938= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Tyr118= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Tyr280= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Tyr726= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Tyr840= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Val409= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Val561= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Val564= Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Ala439= No assertion criteria ZFR-related disorder
- p.Ala714= No assertion criteria ZFR-related disorder
- p.Gln205= No assertion criteria ZFR-related disorder
- p.Gly918= No assertion criteria ZFR-related disorder
- p.Gly965= No assertion criteria ZFR-related disorder
- p.Thr523= No assertion criteria ZFR-related disorder
Uncertain significance 158
- p.Ala299dup Multiple submitters Pure or complex autosomal recessive spastic paraplegia
- p.Ala833Gly Multiple submitters Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Arg669Lys Multiple submitters Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Arg681His Multiple submitters Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Arg915Lys Multiple submitters Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Asn595Ser Multiple submitters Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Ile1026Val Multiple submitters Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Lys830Glu Multiple submitters Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Met1038Ile Multiple submitters Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Met1038Val Multiple submitters Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Ser250Gly Multiple submitters Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Ser847Thr Multiple submitters Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Ser855Ala Multiple submitters Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Thr864Ser Multiple submitters Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Tyr1071His Multiple submitters Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Tyr662His Multiple submitters Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Val234Ile Multiple submitters Pure or complex autosomal recessive spastic paraplegia ⚠
- c.1032+4C>T Single submitter Pure or complex autosomal recessive spastic paraplegia
- c.138-1G>A Single submitter
- c.1713+5T>C Single submitter Pure or complex autosomal recessive spastic paraplegia
- c.2739+4C>T Single submitter Pure or complex autosomal recessive spastic paraplegia
- c.2740-3A>C Single submitter Pure or complex autosomal recessive spastic paraplegia
- c.784+6A>G Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Ala1000Thr Single submitter ⚠
- p.Ala104Thr Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Ala174Ser Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Ala198Thr Single submitter ⚠
- p.Ala204Gly Single submitter ⚠
- p.Ala296_Ala302del Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Ala312fs Single submitter
- p.Ala37Val Single submitter ⚠
- p.Ala41Thr Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Ala43_Gln44insAla Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Ala43_Gln44insAlaAla Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Ala450Ser Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Ala462Ser Single submitter ⚠
- p.Ala534del Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Ala628Thr Single submitter ⚠
- p.Ala79fs Single submitter
- p.Ala849Thr Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Ala85Thr Single submitter ⚠
- p.Ala909Thr Single submitter ⚠
- p.Arg1007His Single submitter ⚠
- p.Arg123Lys Single submitter ⚠
- p.Arg376His Single submitter ⚠
- p.Arg656Thr Single submitter ⚠
- p.Arg717Cys Single submitter ⚠
- p.Arg717His Single submitter
- p.Arg718His Single submitter ⚠
- p.Arg823His Single submitter ⚠
- p.Arg927His Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Asn367Asp Single submitter ⚠
- p.Asn453Ser Single submitter ⚠
- p.Asn453Thr Single submitter ⚠
- p.Asn515Ser Single submitter ⚠
- p.Asn876Asp Single submitter ⚠
- p.Asp1053Glu Single submitter ⚠
- p.Asp543Glu Single submitter ⚠
- p.Asp782Glu Single submitter ⚠
- p.Asp889Glu Single submitter intellectual disability ⚠
- p.Asp994Val Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Gln176His Single submitter ⚠
- p.Gln430Lys Single submitter ⚠
- p.Gln558Pro Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Gln709Arg Single submitter ⚠
- p.Gln862Arg Single submitter ⚠
- p.Glu518Gly Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Glu653del Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Glu778Gly Single submitter ⚠
- p.Glu858Lys Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Glu879Lys Single submitter ⚠
- p.Gly473Glu Single submitter ⚠
- p.Gly507Asp Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Gly880Glu Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.His1045Gln Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.His33Asp Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.His691Pro Single submitter hereditary spastic paraplegia ⚠
- p.His765Leu Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Ile213Val Single submitter ⚠
- p.Ile851Val Single submitter ⚠
- p.Ile865Val Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Leu1021Arg Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Leu789Trp Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Leu799Phe Single submitter ⚠
- p.Leu808Phe Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Leu929Phe Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Leu981Val Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Leu988Pro Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Lys1028Arg Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Lys501Gln Single submitter ⚠
- p.Lys860Glu Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Met1002Ile Single submitter ⚠
- p.Met1032Thr Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Met1038Leu Single submitter ⚠
- p.Met466Thr Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Met492Thr Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Met684Ile Single submitter ⚠
- p.Met706Ile Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Phe314Ser Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Phe504Ile Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Pro1036Leu Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Pro1036Ser Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Pro1036Thr Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Pro164Ser Single submitter ⚠
- p.Pro179Ser Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Pro442Leu Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Pro446His Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Pro530del Single submitter Pure or complex autosomal recessive spastic paraplegia
- p.Pro538Leu Single submitter ⚠
- p.Pro551Ser Single submitter ⚠
- p.Pro694Ser Single submitter ⚠
- p.Pro696Gln Single submitter ⚠
- p.Pro707Thr Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Pro713Leu Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Pro870Ser Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Ser1012Thr Single submitter ⚠
- p.Ser1013Arg Single submitter ⚠
- p.Ser34Gly Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Ser374Cys Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Ser434Leu Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Ser448Asn Single submitter ⚠
- p.Ser448Gly Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Ser486Leu Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Ser722Pro Single submitter ⚠
- p.Ser761Gly Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Ser822Arg Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Ser944Gly Single submitter ⚠
- p.Ser957Gly Single submitter
- p.Ser976Phe Single submitter ⚠
- p.Thr116Ala Single submitter ⚠
- p.Thr167Ala Single submitter ⚠
- p.Thr211Ile Single submitter ⚠
- p.Thr248Ala Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Thr256Ala Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Thr375Ala Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Thr463Ala Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Thr463Met Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Thr471fs Single submitter
- p.Thr483Ala Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Thr497Ile Single submitter ⚠
- p.Thr513Ala Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Thr733Ala Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Thr819Arg Single submitter ⚠
- p.Tyr1071Asp Single submitter ⚠
- p.Tyr145His Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Tyr155Cys Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Tyr260Asp Single submitter ⚠
- p.Tyr667Cys Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Tyr840Cys Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Val230Ile Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Val461Phe Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Val505Ile Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Val545Gly Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Val561Met Single submitter ⚠
- p.Val572Ile Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Val61Leu Single submitter ⚠
- p.Val89Ala Single submitter Pure or complex autosomal recessive spastic paraplegia ⚠
- p.Leu319Pro No assertion criteria ⚠