SYMPK — 152 ClinVar variants

All ClinVar germline SYMPK variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 138 flagged for review →

1 Benign · 6 Likely benign · 145 Uncertain significance

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

⚑ Evidence disagreements 138

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors lean, ClinVar uncertain 103

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

Predictors split 35

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

All SYMPK variants

Benign 1

p.Arg615His Single submitter

Likely benign 6

p.Ala1248Thr Single submitter
p.Gly391Ser Single submitter
p.Ser1185Pro Single submitter
p.Ser1221= Single submitter
p.Ser547= Single submitter
p.Thr442= Single submitter

Uncertain significance 145

c.2182-2A>T Single submitter
c.3353_3354+1del Single submitter
p.Ala1113Val Single submitter ⚠
p.Ala1131Val Single submitter ⚠
p.Ala1233Pro Single submitter ⚠
p.Ala1233Val Single submitter ⚠
p.Ala1265Val Single submitter ⚠
p.Ala165Val Single submitter ⚠
p.Ala460Gly Single submitter ⚠
p.Ala572Thr Single submitter ⚠
p.Ala629Thr Single submitter ⚠
p.Ala633Thr Single submitter ⚠
p.Ala678Ser Single submitter ⚠
p.Arg1022Cys Single submitter ⚠
p.Arg1072Gln Single submitter
p.Arg1080His Single submitter ⚠
p.Arg1192Gln Single submitter ⚠
p.Arg12Gln Single submitter ⚠
p.Arg180His Single submitter ⚠
p.Arg206Cys Single submitter ⚠
p.Arg206His Single submitter ⚠
p.Arg206Leu Single submitter ⚠
p.Arg265Gly Single submitter ⚠
p.Arg298His Single submitter ⚠
p.Arg337His Single submitter ⚠
p.Arg337Leu Single submitter ⚠
p.Arg491Trp Single submitter ⚠
p.Arg545Cys Single submitter ⚠
p.Arg545His Single submitter ⚠
p.Arg568Gln Single submitter ⚠
p.Arg615Cys Single submitter ⚠
p.Arg648Cys Single submitter ⚠
p.Arg691His Single submitter ⚠
p.Arg700Gln Single submitter ⚠
p.Arg706Leu Single submitter ⚠
p.Arg729His Single submitter ⚠
p.Arg738Cys Single submitter ⚠
p.Arg746Gln Single submitter ⚠
p.Arg876Trp Single submitter ⚠
p.Arg924His Single submitter ⚠
p.Asn115Ser Single submitter ⚠
p.Asn122Ser Single submitter ⚠
p.Asn365Ile Single submitter ⚠
p.Asn48Ser Single submitter ⚠
p.Asn801Ile Single submitter ⚠
p.Asp1119Glu Single submitter ⚠
p.Asp28Asn Single submitter ⚠
p.Asp351Asn Single submitter ⚠
p.Gln1048Ter Single submitter
p.Gln318Arg Single submitter ⚠
p.Gln518His Single submitter ⚠
p.Glu1193Gly Single submitter ⚠
p.Glu230Gln Single submitter ⚠
p.Glu368del Single submitter
p.Glu687Asp Single submitter ⚠
p.Gly1163Val Single submitter ⚠
p.Gly1234Ser Single submitter ⚠
p.Gly1272Arg Single submitter ⚠
p.Gly538Val Single submitter ⚠
p.Gly634Val Single submitter ⚠
p.Gly94Ser Single submitter ⚠
p.His1078Tyr Single submitter ⚠
p.His245Arg Single submitter ⚠
p.His930Arg Single submitter ⚠
p.Ile179Val Single submitter ⚠
p.Ile191Thr Single submitter ⚠
p.Ile211Thr Single submitter ⚠
p.Ile526Val Single submitter ⚠
p.Ile831Met Single submitter ⚠
p.Ile86Val Single submitter ⚠
p.Ile892Thr Single submitter ⚠
p.Ile911Thr Single submitter ⚠
p.Ile911Val Single submitter ⚠
p.Ile947Met Single submitter
p.Leu1138Phe Single submitter ⚠
p.Leu1218Pro Single submitter ⚠
p.Leu1223Arg Single submitter ⚠
p.Leu240Arg Single submitter ⚠
p.Leu546Ile Single submitter ⚠
p.Leu639Met Single submitter ⚠
p.Leu673Val Single submitter ⚠
p.Leu699Arg Single submitter ⚠
p.Leu717Val Single submitter ⚠
p.Leu745Val Single submitter ⚠
p.Lys241Gln Single submitter ⚠
p.Lys347Arg Single submitter ⚠
p.Lys384Asn Single submitter ⚠
p.Lys447Thr Single submitter ⚠
p.Lys490Asn Single submitter ⚠
p.Lys520Arg Single submitter ⚠
p.Lys774Asn Single submitter ⚠
p.Lys803Arg Single submitter ⚠
p.Met1025Lys Single submitter ⚠
p.Met1207Ile Single submitter ⚠
p.Met198Val Single submitter ⚠
p.Met243Ile Single submitter ⚠
p.Met30Leu Single submitter ⚠
p.Met509Ile Single submitter ⚠
p.Met509Thr Single submitter ⚠
p.Phe18Tyr Single submitter ⚠
p.Pro1115Ser Single submitter ⚠
p.Pro1134Leu Single submitter ⚠
p.Pro1167Leu Single submitter ⚠
p.Pro1174Thr Single submitter ⚠
p.Pro1180Arg Single submitter ⚠
p.Pro1184Leu Single submitter ⚠
p.Pro1184Ser Single submitter ⚠
p.Pro1249Ser Single submitter ⚠
p.Pro1258Ala Single submitter ⚠
p.Pro1260Gln Single submitter ⚠
p.Pro196Thr Single submitter ⚠
p.Pro221Ser Single submitter ⚠
p.Pro25Leu Single submitter ⚠
p.Pro377Arg Single submitter ⚠
p.Pro766Leu Single submitter ⚠
p.Pro939Arg Single submitter ⚠
p.Ser1170Phe Single submitter ⚠
p.Ser1173Cys Single submitter ⚠
p.Ser1211Leu Single submitter ⚠
p.Ser1221Cys Single submitter ⚠
p.Ser162Phe Single submitter ⚠
p.Ser501Leu Single submitter ⚠
p.Ser50Ala Single submitter ⚠
p.Ser606Tyr Single submitter ⚠
p.Ser636Trp Single submitter ⚠
p.Ser677Asn Single submitter ⚠
p.Ser8Arg Single submitter ⚠
p.Thr1246Ala Single submitter ⚠
p.Thr1246Ser Single submitter ⚠
p.Thr20Ile Single submitter ⚠
p.Thr382Ser Single submitter ⚠
p.Thr530Ala Single submitter ⚠
p.Tyr225His Single submitter ⚠
p.Tyr630His Single submitter ⚠
p.Tyr642Phe Single submitter ⚠
p.Tyr794Cys Single submitter ⚠
p.Val1016Ile Single submitter ⚠
p.Val139Ala Single submitter
p.Val149Ile Single submitter ⚠
p.Val227Ala Single submitter ⚠
p.Val549Met Single submitter ⚠
p.Val604Ala Single submitter ⚠
p.Val612Met Single submitter ⚠
p.Val955Met Single submitter ⚠
p.Val9Ile Single submitter ⚠