Sugi Variant

Sugi Variant/STRADA

STRADA — 393 ClinVar variants

All ClinVar germline STRADA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 161 flagged for review →

14 Pathogenic · 5 Likely pathogenic · 6 Conflicting · 4 Benign · 2 Benign/Likely benign · 181 Likely benign · 181 Uncertain significance

Full STRADA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 161

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 1

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 110

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 49

The independent predictors disagree with each other — read with care.

All STRADA variants

Pathogenic 14

  • p.Arg228Ter Multiple submitters polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Arg10Ter Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Arg346Ter Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Cys298fs Single submitter
  • p.Gln251Ter Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Lys18fs Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Phe53fs Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Pro34fs Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Tyr210Ter Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Tyr69Ter Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Val277fs Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Val85fs Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Ala135Thr No assertion criteria self-limited epilepsy with centrotemporal spikes ⚠
  • p.Asp281fs No assertion criteria polyhydramnios, megalencephaly, and symptomatic epilepsy

Likely pathogenic 5

  • c.36+1G>A Multiple submitters polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.37-1G>C Multiple submitters polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.457+1G>T Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.95-2A>C Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.1101-1G>C No assertion criteria polyhydramnios, megalencephaly, and symptomatic epilepsy

Conflicting classifications of pathogenicity 6

  • p.Ala45= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Arg367= Single submitter Inborn genetic diseases
  • p.Glu308Lys Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.His351Tyr Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Ser47Ter Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Thr331Asn Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠

Benign 4

  • c.349-18C>T Multiple submitters polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.858+15C>T Multiple submitters polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.-18C>T Multiple submitters polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.457+14G>C Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy

Benign/Likely benign 2

  • c.36+15A>G Multiple submitters polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Pro246= Multiple submitters polyhydramnios, megalencephaly, and symptomatic epilepsy

Likely benign 181

  • p.Glu404= Multiple submitters polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Leu87= Multiple submitters polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Pro350= Multiple submitters polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Pro35Leu Multiple submitters polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Ser52= Multiple submitters polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Tyr96= Multiple submitters polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.1100+13G>A Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.1100+19G>A Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.1100+20C>T Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.1100+29C>T Single submitter
  • c.1100+7C>T Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.1101-11T>G Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.1101-15C>T Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.1101-16_1101-14del Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.1101-17C>T Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.1101-18C>T Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.1101-23TC[2] Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.1101-5T>C Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.1101-7_1101-6insAA Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.1101-7C>G Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.1101-8C>T Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.1143+12C>T Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.1143+16_1143+17insATTCTG Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.1143+16C>G Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.1143+16C>T Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.1143+17G>A Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.1144-19C>T Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.1144-4C>G Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.1144-7C>T Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.1144-9C>A Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.124-10T>C Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.124-12T>C Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.124-15C>A Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.124-15CTTTTT[3] Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.124-16T>C Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.124-18_124-16del Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.226+14C>A Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.226+15C>T Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.226+16G>A Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.226+18C>T Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.227-13del Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.227-20G>A Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.227-6T>C Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.227-9T>C Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.348+10C>T Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.348+13G>A Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.348+13G>C Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.348+14A>G Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.348+9C>A Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.349-10T>C Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.349-11A>G Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.349-12C>G Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.349-14A>G Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.349-15C>T Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.349-16T>C Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.349-17T>C Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.36+20_36+22del Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.36+7G>A Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.36+9T>C Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.37-4T>C Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.37-9C>T Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.457+9G>T Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.458-12C>A Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.458-17G>A Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.458-18T>C Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.581+14C>T Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.581+15G>A Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.582-10G>A Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.582-11C>T Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.582-12C>T Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.582-14C>T Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.582-17C>G Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.582-17C>T Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.582-5C>T Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.582-6C>T Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.753+7G>A Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.753+9G>T Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.754-10del Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.754-12T>C Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.754-13T>A Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.754-14T>A Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.754-14T>C Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.754-17T>C Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.754-18C>G Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.754-5C>G Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.754-6G>A Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.754-7G>T Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.858+11C>T Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.858+12_858+14del Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.858+12G>A Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.858+18C>T Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.858+19G>A Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.859-16G>T Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.859-17G>C Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.859-20C>T Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.859-6C>T Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.859-9C>T Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.95-18T>C Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.95-5C>A Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.95-9C>T Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Ala151= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Ala171= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Ala307= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Ala319= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Arg100= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Arg101= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Arg13= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Arg215= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Arg40= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Arg89= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Asn109= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Asn141= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Asn274= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Asn293= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Asn336= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Asn375= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Asn402= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Asn420= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Asp410= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Asp427= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Asp428= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Glu110= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Glu290= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Glu308= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Glu32= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Glu425= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Glu57= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Glu65= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Gly117= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Gly224= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Gly36= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Gly67= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Gly78= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.His231= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Ile11= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Ile130= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Ile138= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Ile203= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Ile414= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Leu143= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Leu211= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Leu241= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Leu244= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Leu272= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Leu299= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Leu327= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Leu360= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Leu390= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Leu63= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Phe125= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Pro278= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Pro306= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Pro334= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Pro35= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Pro364= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Pro368= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Pro391= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Ser16= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Ser195= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Ser204= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Ser237= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Ser315= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Ser317= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Ser321= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Ser47= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Thr147= Single submitter
  • p.Thr302= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Thr42= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Tyr256= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Tyr263= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Tyr344= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Tyr69= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Val121= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Val21= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Val248= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Val277= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Val318= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Val418= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Val426= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Val5= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Leu292= No assertion criteria STRADA-related disorder

Uncertain significance 181

  • p.Ala45Val Multiple submitters polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Arg100Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg13Gln Multiple submitters polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Arg13Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Arg215Cys Multiple submitters polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Arg333Trp Multiple submitters polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Arg395His Multiple submitters polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Arg39Gln Multiple submitters polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Asn109Ser Multiple submitters polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Asn402Ser Multiple submitters polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Asp232Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Asp301Tyr Multiple submitters polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Asp428Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Glu422Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu70Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Gly207Ala Multiple submitters polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Gly294Ser Multiple submitters polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.His223Asp Multiple submitters Inborn genetic diseases ⚠
  • p.His351Asn Multiple submitters polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Ile11Ser Multiple submitters polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Ile138Val Multiple submitters polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Ile305Val Multiple submitters Inborn genetic diseases ⚠
  • p.Lys123Arg Multiple submitters polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Pro283Leu Multiple submitters polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Pro350His Multiple submitters Inborn genetic diseases ⚠
  • p.Pro364Arg Multiple submitters polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Ser369Arg Multiple submitters polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Thr113Ala Multiple submitters polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Thr331Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr152= Multiple submitters polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Val296Met Multiple submitters polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Val58Phe Multiple submitters Inborn genetic diseases ⚠
  • c.1100+6C>T Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.1143+5C>T Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.1143+6G>A Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.1144-1G>A Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.37-3T>C Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.581+4C>T Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.754-10dup Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.95-11C>A Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • c.95-9C>G Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Ala139Ser Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Ala155Val Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Ala258Pro Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Ala273Val Single submitter Inborn genetic diseases ⚠
  • p.Ala307Thr Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Ala88Val Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Arg10Gln Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Arg10Leu Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Arg134Gln Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Arg13Trp Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Arg194Ser Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Arg226Gln Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Arg226Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg228Gln Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Arg316Cys Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Arg316His Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Arg333Gln Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Arg346Gln Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Arg362Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg362His Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Arg384Gln Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Arg384Ter Single submitter
  • p.Arg385Cys Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Arg385His Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Arg395Cys Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Arg40Lys Single submitter Inborn genetic diseases ⚠
  • p.Asn126Ser Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Asn129Ser Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Asn217Ser Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Asn274Thr Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Asn43His Single submitter Inborn genetic diseases ⚠
  • p.Asn43Ser Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Asp140Glu Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Asp232Asn Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Asp428Tyr Single submitter Inborn genetic diseases ⚠
  • p.Cys107Tyr Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Cys270Arg Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Gln250Glu Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Gln251del Single submitter
  • p.Gln381Ter Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Glu28Val Single submitter Inborn genetic diseases ⚠
  • p.Glu32Gly Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Glu392Lys Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Glu425Gln Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Glu57Val Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Glu65Asp Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Gly153Ser Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Gly207Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly224Trp Single submitter Inborn genetic diseases ⚠
  • p.Gly275Ala Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Gly275Ser Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Gly322Ser Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Gly337Ser Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Gly36Val Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Gly413Arg Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Gly66Arg Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Gly67Val Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.His120Arg Single submitter ⚠
  • p.His223Pro Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.His276Arg Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.His342fs Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.His342Tyr Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.His351Asp Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.His351Gln Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Ile201Phe Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Ile203Met Single submitter Inborn genetic diseases ⚠
  • p.Ile382fs Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Ile414Val Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Ile75Val Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Leu218Phe Single submitter ⚠
  • p.Leu373Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu424Val Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Leu63Gln Single submitter Inborn genetic diseases ⚠
  • p.Lys18Asn Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Lys18Met Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Lys91Glu Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Met282Thr Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Met287Leu Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Met312Ile Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Met59Thr Single submitter Inborn genetic diseases ⚠
  • p.Met83del Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Phe137Ser Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Phe233Cys Single submitter Inborn genetic diseases ⚠
  • p.Phe30Ser Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Phe352fs Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Phe355Leu Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Phe53del Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Pro128Ala Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Pro246Ser Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Pro283Ser Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Pro306Leu Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Pro334Leu Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Pro350Ser Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Pro364Ala Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Pro364fs Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Pro364Leu Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Pro399Ser Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Pro64Ser Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Pro92Ala Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Ser122Cys Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Ser237Gly Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Ser264Arg Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Ser264Thr Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Ser315Leu Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Ser317Leu Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Ser321Cys Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Ser326Arg Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Ser339Leu Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Ser349Ala Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Ser371Asn Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Ser408Tyr Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Ser52Phe Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Ser54Pro Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Ser60Ile Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Thr285Ala Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Thr285Pro Single submitter Inborn genetic diseases ⚠
  • p.Thr302Asn Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Thr304Ile Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Thr398Asn Single submitter Inborn genetic diseases ⚠
  • p.Thr398Ile Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Thr419Ala Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Thr42Pro Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Trp243Cys Single submitter Inborn genetic diseases ⚠
  • p.Tyr152His Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Tyr236Cys Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Tyr96Cys Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Val121Ile Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Val131Leu Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Val131Met Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Val146Ala Single submitter Inborn genetic diseases ⚠
  • p.Val318_Ser324del Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Val318Ala Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Val356= Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy
  • p.Val356Ala Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Val58Gly Single submitter Inborn genetic diseases ⚠
  • p.Val85Met Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Val99Ala Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • p.Val99Leu Single submitter polyhydramnios, megalencephaly, and symptomatic epilepsy ⚠
  • c.1100+54_1100+55delinsTA No assertion criteria
  • p.Ile11fs No assertion criteria