SRPX2 — 200 ClinVar variants
All ClinVar germline SRPX2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 104 flagged for review →
1 Pathogenic · 1 Likely pathogenic · 18 Conflicting · 18 Benign · 4 Benign/Likely benign · 52 Likely benign · 106 Uncertain significance
Full SRPX2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 104
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 13
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
SRPX2 p.Arg202Gln
Conflicting
Single submitter
genetic developmental and epileptic encephalopathy
-
SRPX2 p.Arg246Gln
Conflicting
Single submitter
History of neurodevelopmental disorder
-
SRPX2 p.Arg298His
Conflicting
Single submitter
rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
-
SRPX2 p.Arg410His
Conflicting
Single submitter
rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
-
SRPX2 p.Asn327Ser
Conflicting
Single submitter
rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
-
SRPX2 p.Asn400Ser
Conflicting
Single submitter
rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
-
SRPX2 p.Gly216Ser
Conflicting
Single submitter
rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
- SRPX2 p.Gly28Asp Conflicting Single submitter
-
SRPX2 p.His154Asp
Conflicting
Single submitter
rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
-
SRPX2 p.His231Gln
Conflicting
Single submitter
rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
-
SRPX2 p.Leu344Ile
Conflicting
Single submitter
rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
-
SRPX2 p.Lys75Met
Conflicting
Single submitter
rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
-
SRPX2 p.Ser108Asn
Conflicting
Single submitter
rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
Predictors lean, ClinVar uncertain 74
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
SRPX2 p.Arg185Leu
Uncertain significance
Multiple submitters
rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
-
SRPX2 p.Arg413His
Uncertain significance
Multiple submitters
rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
-
SRPX2 p.Arg430His
Uncertain significance
Multiple submitters
rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
-
SRPX2 p.Arg54Gln
Uncertain significance
Multiple submitters
rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
-
SRPX2 p.Asn327Lys
Uncertain significance
Multiple submitters
rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
-
SRPX2 p.Gln307Arg
Uncertain significance
Multiple submitters
rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
- SRPX2 p.Glu388Gly Uncertain significance Multiple submitters
- SRPX2 p.Gly172Asp Uncertain significance Multiple submitters
- SRPX2 p.Ile379Val Uncertain significance Multiple submitters
-
SRPX2 p.Ile426Val
Uncertain significance
Multiple submitters
rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
-
SRPX2 p.Ser102Leu
Uncertain significance
Multiple submitters
rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
-
SRPX2 p.Thr242Ser
Uncertain significance
Multiple submitters
rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
-
SRPX2 p.Thr377Ala
Uncertain significance
Multiple submitters
rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
-
SRPX2 p.Val382Met
Uncertain significance
Multiple submitters
rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
-
SRPX2 p.Val419Met
Uncertain significance
Multiple submitters
rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
-
SRPX2 p.Ala124Thr
Uncertain significance
Single submitter
rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
-
SRPX2 p.Ala124Val
Uncertain significance
Single submitter
rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
-
SRPX2 p.Ala320Val
Uncertain significance
Single submitter
rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
-
SRPX2 p.Arg110His
Uncertain significance
Single submitter
rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
- SRPX2 p.Arg121Lys Uncertain significance Single submitter
- SRPX2 p.Arg161Pro Uncertain significance Single submitter
- SRPX2 p.Arg168Lys Uncertain significance Single submitter
- SRPX2 p.Arg190His Uncertain significance Single submitter
- SRPX2 p.Arg224Gln Uncertain significance Single submitter
- SRPX2 p.Arg310His Uncertain significance Single submitter
- SRPX2 p.Arg374Trp Uncertain significance Single submitter
- SRPX2 p.Arg391Cys Uncertain significance Single submitter
- SRPX2 p.Arg393Gln Uncertain significance Single submitter
- SRPX2 p.Arg393Trp Uncertain significance Single submitter
-
SRPX2 p.Arg430Cys
Uncertain significance
Single submitter
rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
- SRPX2 p.Arg457Cys Uncertain significance Single submitter
- SRPX2 p.Arg86Cys Uncertain significance Single submitter
- SRPX2 p.Arg8Lys Uncertain significance Single submitter
- SRPX2 p.Arg93Trp Uncertain significance Single submitter
- SRPX2 p.Asp34Asn Uncertain significance Single submitter
- SRPX2 p.Asp446Gly Uncertain significance Single submitter
- SRPX2 p.Cys292Arg Uncertain significance Single submitter
- SRPX2 p.Gln342Glu Uncertain significance Single submitter
-
SRPX2 p.Glu156Gln
Uncertain significance
Single submitter
rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
- SRPX2 p.Glu195Gln Uncertain significance Single submitter
-
SRPX2 p.Glu236Gln
Uncertain significance
Single submitter
rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
-
SRPX2 p.Glu39Asp
Uncertain significance
Single submitter
rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
- SRPX2 p.Glu438Gly Uncertain significance Single submitter
- SRPX2 p.Glu438Lys Uncertain significance Single submitter
-
SRPX2 p.Glu438Val
Uncertain significance
Single submitter
rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
- SRPX2 p.Glu439Lys Uncertain significance Single submitter
- SRPX2 p.Glu43Lys Uncertain significance Single submitter
- SRPX2 p.Glu465Lys Uncertain significance Single submitter
-
SRPX2 p.Glu68Lys
Uncertain significance
Single submitter
rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
- SRPX2 p.Gly273Ser Uncertain significance Single submitter
-
SRPX2 p.Gly295Arg
Uncertain significance
Single submitter
SRPX2-related disorder
- SRPX2 p.Ile361Met Uncertain significance Single submitter
-
SRPX2 p.Ile378Thr
Uncertain significance
Single submitter
rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
-
SRPX2 p.Leu17Val
Uncertain significance
Single submitter
rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
- SRPX2 p.Leu449Pro Uncertain significance Single submitter
- SRPX2 p.Met120Thr Uncertain significance Single submitter
- SRPX2 p.Met322Val Uncertain significance Single submitter
- SRPX2 p.Met363Val Uncertain significance Single submitter
- SRPX2 p.Met432Val Uncertain significance Single submitter
- SRPX2 p.Phe338Ile Uncertain significance Single submitter
- SRPX2 p.Pro269Ser Uncertain significance Single submitter
- SRPX2 p.Pro386Leu Uncertain significance Single submitter
- SRPX2 p.Ser148Thr Uncertain significance Single submitter
- SRPX2 p.Ser315Pro Uncertain significance Single submitter
- SRPX2 p.Thr219Ile Uncertain significance Single submitter
-
SRPX2 p.Thr219Ser
Uncertain significance
Single submitter
rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
-
SRPX2 p.Thr6Ile
Uncertain significance
Single submitter
rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
-
SRPX2 p.Tyr248His
Uncertain significance
Single submitter
rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
-
SRPX2 p.Tyr72Ser
Uncertain significance
Single submitter
rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
- SRPX2 p.Val326Ile Uncertain significance Single submitter
-
SRPX2 p.Val40Ile
Uncertain significance
Single submitter
rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
- SRPX2 p.Val55Ala Uncertain significance Single submitter
-
SRPX2 p.Arg220Thr
Uncertain significance
No assertion criteria
rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
-
SRPX2 p.Pro187Leu
Uncertain significance
No assertion criteria
rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
Predictors split 17
The independent predictors disagree with each other — read with care.
-
SRPX2 p.Ala201Val
Uncertain significance
Multiple submitters
rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
-
SRPX2 p.Arg185Cys
Uncertain significance
Multiple submitters
rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
- SRPX2 p.Pro181Arg Uncertain significance Multiple submitters
-
SRPX2 p.Trp58Cys
Uncertain significance
Multiple submitters
rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
-
SRPX2 p.Ala349Gly
Uncertain significance
Single submitter
rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
-
SRPX2 p.Arg144His
Uncertain significance
Single submitter
rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
- SRPX2 p.Arg190Cys Uncertain significance Single submitter
-
SRPX2 p.Arg310Cys
Conflicting
Single submitter
rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
- SRPX2 p.Arg410Cys Uncertain significance Single submitter
- SRPX2 p.Asp427Glu Uncertain significance Single submitter
- SRPX2 p.Glu404Ala Uncertain significance Single submitter
-
SRPX2 p.Leu83Pro
Conflicting
Single submitter
rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
- SRPX2 p.Phe408Leu Uncertain significance Single submitter
-
SRPX2 p.Pro270Leu
Conflicting
Single submitter
rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
- SRPX2 p.Tyr339Cys Uncertain significance Single submitter
- SRPX2 p.Val261Ala Uncertain significance Single submitter
-
SRPX2 p.Val328Ile
Conflicting
Single submitter
rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
All SRPX2 variants
Pathogenic 1
- p.Gln395Ter Single submitter rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
Likely pathogenic 1
- p.Arg240Cys Single submitter
Conflicting classifications of pathogenicity 18
- p.Ala280= Single submitter rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
- p.Arg202Gln Single submitter genetic developmental and epileptic encephalopathy ⚠
- p.Arg246Gln Single submitter History of neurodevelopmental disorder ⚠
- p.Arg298His Single submitter rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ⚠
- p.Arg310Cys Single submitter rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ⚠
- p.Arg410His Single submitter rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ⚠
- p.Asn327Ser Single submitter rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ⚠
- p.Asn400Ser Single submitter rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ⚠
- p.Gly216Ser Single submitter rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ⚠
- p.Gly28Asp Single submitter ⚠
- p.His154Asp Single submitter rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ⚠
- p.His231Gln Single submitter rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ⚠
- p.Leu344Ile Single submitter rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ⚠
- p.Leu83Pro Single submitter rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ⚠
- p.Lys75Met Single submitter rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ⚠
- p.Pro270Leu Single submitter rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ⚠
- p.Ser108Asn Single submitter rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ⚠
- p.Val328Ile Single submitter rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ⚠
Benign 18
- c.1096-119T>C Multiple submitters
- c.1218-6C>T Multiple submitters rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
- c.163+12T>C Multiple submitters rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
- c.163+291T>G Multiple submitters
- c.355+152C>A Multiple submitters
- c.356-205C>A Multiple submitters
- c.356-38G>A Multiple submitters rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
- c.83-100T>C Multiple submitters
- c.-399G>C Multiple submitters
- p.Cys306= Multiple submitters rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
- c.1217+36G>C Single submitter
- c.164-217del Single submitter
- c.164-217dup Single submitter
- c.164-25G>T Single submitter
- c.356-295T>C Single submitter
- c.660-16del Single submitter
- c.781+321G>A Single submitter
- c.961+12C>T Single submitter
Benign/Likely benign 4
- p.Arg161= Multiple submitters rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
- p.Arg458Gln Multiple submitters rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
- p.Pro208= Multiple submitters rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
- p.Tyr431= Multiple submitters rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
Likely benign 52
- c.1217+35G>C Multiple submitters
- c.164-158T>G Multiple submitters
- c.533-30G>A Multiple submitters
- c.782-27C>T Multiple submitters
- c.*60G>A Multiple submitters
- p.Ala69= Multiple submitters rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
- p.Arg86His Multiple submitters rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
- p.Gln407= Multiple submitters History of neurodevelopmental disorder
- p.Gly294= Multiple submitters rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
- p.His123= Multiple submitters rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
- p.His188= Multiple submitters rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
- p.Ser150Phe Multiple submitters rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
- c.1095+237G>A Single submitter
- c.1095+276G>A Single submitter
- c.163+293G>T Single submitter
- c.164-218_164-217del Single submitter
- c.164-231T>G Single submitter
- c.164-234T>G Single submitter
- c.355+8G>A Single submitter
- c.355+8G>T Single submitter rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
- c.533-117T>C Single submitter
- c.659+8_659+22del Single submitter rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
- c.660-17C>T Single submitter
- c.781+20T>A Single submitter
- c.782-189C>T Single submitter
- c.82+243C>T Single submitter
- c.962-16C>T Single submitter
- c.-37A>G Single submitter
- p.Arg355Gln Single submitter
- p.Arg413Cys Single submitter
- p.Arg54= Single submitter rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
- p.Arg93= Single submitter
- p.Asn325= Single submitter rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
- p.Asn327= Single submitter rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
- p.Cys122= Single submitter rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
- p.Gln337= Single submitter rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
- p.Glu195= Single submitter
- p.Glu453= Single submitter
- p.Gly216= Single submitter rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
- p.His231= Single submitter
- p.Ile361= Single submitter
- p.Ile401Thr Single submitter
- p.Leu381= Single submitter rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
- p.Pro19= Single submitter rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
- p.Pro233= Single submitter
- p.Pro33= Single submitter rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
- p.Pro437= Single submitter rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
- p.Thr455= Single submitter rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
- p.Tyr241= Single submitter rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
- p.Tyr244= Single submitter rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
- p.Val389Met Single submitter
- p.Arg393= No assertion criteria SRPX2-related disorder
Uncertain significance 106
- c.961+1G>A Multiple submitters SRPX2-related disorder
- p.Ala201Val Multiple submitters rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ⚠
- p.Arg185Cys Multiple submitters rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ⚠
- p.Arg185Leu Multiple submitters rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ⚠
- p.Arg413His Multiple submitters rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ⚠
- p.Arg430His Multiple submitters rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ⚠
- p.Arg54Gln Multiple submitters rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ⚠
- p.Asn327Lys Multiple submitters rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ⚠
- p.Gln307Arg Multiple submitters rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ⚠
- p.Glu388Gly Multiple submitters ⚠
- p.Gly172Asp Multiple submitters ⚠
- p.Ile379Val Multiple submitters ⚠
- p.Ile426Val Multiple submitters rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ⚠
- p.Pro181Arg Multiple submitters ⚠
- p.Pro74Leu Multiple submitters rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
- p.Ser102Leu Multiple submitters rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ⚠
- p.Thr242Ser Multiple submitters rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ⚠
- p.Thr377Ala Multiple submitters rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ⚠
- p.Trp58Cys Multiple submitters rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ⚠
- p.Val382Met Multiple submitters rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ⚠
- p.Val419Met Multiple submitters rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ⚠
- c.112_163+10dup Single submitter rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
- c.1217+2T>A Single submitter
- c.355+1G>C Single submitter
- c.533-1G>A Single submitter
- p.Ala124Thr Single submitter rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ⚠
- p.Ala124Val Single submitter rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ⚠
- p.Ala214Val Single submitter
- p.Ala251Thr Single submitter
- p.Ala320Val Single submitter rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ⚠
- p.Ala349Gly Single submitter rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ⚠
- p.Arg110His Single submitter rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ⚠
- p.Arg121Lys Single submitter ⚠
- p.Arg144His Single submitter rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ⚠
- p.Arg161Gln Single submitter
- p.Arg161Pro Single submitter ⚠
- p.Arg168Lys Single submitter ⚠
- p.Arg190Cys Single submitter ⚠
- p.Arg190His Single submitter ⚠
- p.Arg224Gln Single submitter ⚠
- p.Arg304Trp Single submitter
- p.Arg310His Single submitter ⚠
- p.Arg343Gln Single submitter rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
- p.Arg374Trp Single submitter ⚠
- p.Arg391Cys Single submitter ⚠
- p.Arg393Gln Single submitter ⚠
- p.Arg393Trp Single submitter ⚠
- p.Arg410Cys Single submitter ⚠
- p.Arg430Cys Single submitter rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ⚠
- p.Arg457Cys Single submitter ⚠
- p.Arg54Ter Single submitter
- p.Arg86Cys Single submitter ⚠
- p.Arg8Lys Single submitter ⚠
- p.Arg93Trp Single submitter ⚠
- p.Asp34Asn Single submitter ⚠
- p.Asp427Glu Single submitter ⚠
- p.Asp446Gly Single submitter ⚠
- p.Cys292Arg Single submitter ⚠
- p.Gln342Glu Single submitter ⚠
- p.Glu156Gln Single submitter rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ⚠
- p.Glu195Gln Single submitter ⚠
- p.Glu236Gln Single submitter rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ⚠
- p.Glu340Ala Single submitter
- p.Glu39Asp Single submitter rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ⚠
- p.Glu404Ala Single submitter ⚠
- p.Glu438Gly Single submitter ⚠
- p.Glu438Lys Single submitter ⚠
- p.Glu438Val Single submitter rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ⚠
- p.Glu439Lys Single submitter ⚠
- p.Glu43Lys Single submitter ⚠
- p.Glu453Asp Single submitter
- p.Glu465Lys Single submitter ⚠
- p.Glu68Lys Single submitter rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ⚠
- p.Gly273Ser Single submitter ⚠
- p.Gly295Arg Single submitter SRPX2-related disorder ⚠
- p.Ile361Met Single submitter ⚠
- p.Ile378Thr Single submitter rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ⚠
- p.Leu13fs Single submitter epilepsy
- p.Leu17Val Single submitter rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ⚠
- p.Leu449Pro Single submitter ⚠
- p.Met120Thr Single submitter ⚠
- p.Met322Val Single submitter ⚠
- p.Met363Val Single submitter ⚠
- p.Met432Val Single submitter ⚠
- p.Phe338Ile Single submitter ⚠
- p.Phe408Leu Single submitter ⚠
- p.Phe416= Single submitter
- p.Pro196Thr Single submitter rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
- p.Pro269Ser Single submitter ⚠
- p.Pro386Leu Single submitter ⚠
- p.Ser148Thr Single submitter ⚠
- p.Ser315Pro Single submitter ⚠
- p.Ser367fs Single submitter
- p.Ter466Gly Single submitter rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
- p.Thr219Ile Single submitter ⚠
- p.Thr219Ser Single submitter rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ⚠
- p.Thr6Ile Single submitter rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ⚠
- p.Tyr248His Single submitter rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ⚠
- p.Tyr339Cys Single submitter ⚠
- p.Tyr72Ser Single submitter rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ⚠
- p.Val261Ala Single submitter ⚠
- p.Val326Ile Single submitter ⚠
- p.Val40Ile Single submitter rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ⚠
- p.Val55Ala Single submitter ⚠
- p.Arg220Thr No assertion criteria rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ⚠
- p.Pro187Leu No assertion criteria rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ⚠