KCNN2 — 222 ClinVar variants
All ClinVar germline KCNN2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 110 flagged for review →
8 Pathogenic · 2 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 5 Conflicting · 2 Benign · 32 Likely benign · 163 Uncertain significance
Full KCNN2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 110
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.
-
KCNN2 p.Ile500Thr
Conflicting
Single submitter
Inborn genetic diseases
-
KCNN2 p.Ile571Met
Conflicting
Single submitter
Motor tics
Predictors lean, ClinVar uncertain 80
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
KCNN2 p.Asn412Ser
Uncertain significance
Multiple submitters
KCNN2-related Neurodevelopmental movement disorder
-
KCNN2 p.Ile730Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KCNN2 p.Ile744Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KCNN2 p.Lys332Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KCNN2 p.Pro248Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KCNN2 p.Ala258Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNN2 p.Ala270Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNN2 p.Ala275Val Uncertain significance Single submitter
- KCNN2 p.Ala350Thr Uncertain significance Single submitter
- KCNN2 p.Ala451Val Uncertain significance Single submitter
-
KCNN2 p.Ala464Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNN2 p.Arg403Gly Uncertain significance Single submitter
-
KCNN2 p.Arg425His
Uncertain significance
Single submitter
dystonia 34, myoclonic
-
KCNN2 p.Arg745Gly
Uncertain significance
Single submitter
neurodevelopmental disorder with or without variable movement or behavioral abnormalities
-
KCNN2 p.Arg769Gln
Uncertain significance
Single submitter
neurodevelopmental disorder with or without variable movement or behavioral abnormalities
-
KCNN2 p.Arg777Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNN2 p.Asn286Ser Uncertain significance Single submitter
-
KCNN2 p.Asn289Ser
Uncertain significance
Single submitter
neurodevelopmental disorder with or without variable movement or behavioral abnormalities
- KCNN2 p.Asn412Asp Uncertain significance Single submitter
-
KCNN2 p.Asn509Ile
Uncertain significance
Single submitter
neurodevelopmental disorder with or without variable movement or behavioral abnormalities
-
KCNN2 p.Asp373Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNN2 p.Asp411Tyr
Uncertain significance
Single submitter
neurodevelopmental disorder with or without variable movement or behavioral abnormalities
-
KCNN2 p.Asp760Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNN2 p.Gln327Glu Uncertain significance Single submitter
- KCNN2 p.Glu610Ala Uncertain significance Single submitter
- KCNN2 p.Glu716Gln Uncertain significance Single submitter
- KCNN2 p.Gly300Ala Uncertain significance Single submitter
- KCNN2 p.Gly307Ser Uncertain significance Single submitter
-
KCNN2 p.Gly308Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNN2 p.Gly312Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNN2 p.Gly314Arg Uncertain significance Single submitter
-
KCNN2 p.Gly330Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNN2 p.Gly334Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNN2 p.Gly572Ser Uncertain significance Single submitter
-
KCNN2 p.Gly583Glu
Uncertain significance
Single submitter
dystonia 34, myoclonic
- KCNN2 p.Gly594Arg Uncertain significance Single submitter
- KCNN2 p.Gly596Ser Uncertain significance Single submitter
- KCNN2 p.Gly731Ser Uncertain significance Single submitter
-
KCNN2 p.His657Arg
Uncertain significance
Single submitter
neurodevelopmental disorder with or without variable movement or behavioral abnormalities
- KCNN2 p.His663Leu Uncertain significance Single submitter
- KCNN2 p.Ile358Phe Uncertain significance Single submitter
- KCNN2 p.Ile433Met Uncertain significance Single submitter
- KCNN2 p.Ile571Val Uncertain significance Single submitter
-
KCNN2 p.Ile705Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNN2 p.Leu339Met
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNN2 p.Leu339Val Uncertain significance Single submitter
- KCNN2 p.Leu470Val Uncertain significance Single submitter
-
KCNN2 p.Leu476Val
Uncertain significance
Single submitter
neurodevelopmental disorder with or without variable movement or behavioral abnormalities
-
KCNN2 p.Leu684Met
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNN2 p.Lys324Arg Uncertain significance Single submitter
-
KCNN2 p.Lys344Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNN2 p.Lys584Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNN2 p.Lys659Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNN2 p.Met239Val
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNN2 p.Met361Ile Uncertain significance Single submitter
-
KCNN2 p.Met623Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNN2 p.Met756Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNN2 p.Pro248His
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNN2 p.Pro261Ala
Uncertain significance
Single submitter
neurodevelopmental disorder with or without variable movement or behavioral abnormalities
- KCNN2 p.Pro261Arg Uncertain significance Single submitter
- KCNN2 p.Pro442Leu Uncertain significance Single submitter
- KCNN2 p.Pro442Ser Uncertain significance Single submitter
- KCNN2 p.Ser273Ala Uncertain significance Single submitter
-
KCNN2 p.Ser311Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNN2 p.Ser321Ala Uncertain significance Single submitter
-
KCNN2 p.Ser389Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNN2 p.Ser499Asn Uncertain significance Single submitter
- KCNN2 p.Ser570Pro Uncertain significance Single submitter
-
KCNN2 p.Ser770Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNN2 p.Ser773Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNN2 p.Thr302Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNN2 p.Thr390Met
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNN2 p.Thr590Asn Uncertain significance Single submitter
-
KCNN2 p.Thr728Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNN2 p.Trp562Cys Uncertain significance Single submitter
-
KCNN2 p.Tyr294Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNN2 p.Tyr581His Uncertain significance Single submitter
-
KCNN2 p.Tyr765Cys
Uncertain significance
Single submitter
neurodevelopmental disorder with or without variable movement or behavioral abnormalities
-
KCNN2 p.Val359Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNN2 p.Val618Met
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 28
The independent predictors disagree with each other — read with care.
-
KCNN2 p.Arg233Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- KCNN2 p.Ser281Cys Uncertain significance Multiple submitters
-
KCNN2 p.Ser281Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KCNN2 p.Ser788Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KCNN2 p.Arg224Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNN2 p.Arg233Cys
Likely benign
Single submitter
neurodevelopmental disorder with or without variable movement or behavioral abnormalities
-
KCNN2 p.Arg769Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNN2 p.Arg771Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNN2 p.Arg775Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNN2 p.Asn699Ser Uncertain significance Single submitter
-
KCNN2 p.Asp240His
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNN2 p.Gln551Pro Uncertain significance Single submitter
-
KCNN2 p.Glu424Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNN2 p.Gly221Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNN2 p.Gly254Glu Uncertain significance Single submitter
-
KCNN2 p.Gly255Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNN2 p.Gly738Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNN2 p.His335Arg Uncertain significance Single submitter
-
KCNN2 p.Ile398Thr
Uncertain significance
Single submitter
neurodevelopmental disorder with or without variable movement or behavioral abnormalities
-
KCNN2 p.Leu611Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNN2 p.Leu691Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNN2 p.Lys647Arg
Likely benign
Single submitter
Inborn genetic diseases
-
KCNN2 p.Met223Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNN2 p.Met409Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNN2 p.Phe715Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNN2 p.Pro225Leu Uncertain significance Single submitter
-
KCNN2 p.Pro245Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNN2 p.Val280Met
Uncertain significance
Single submitter
Inborn genetic diseases
All KCNN2 variants
Pathogenic 8
- p.Gly574Ser Multiple submitters Global developmental delay
- p.Gly574Asp Single submitter
- p.Ile655fs Single submitter
- p.Leu478_Tyr479insTer Single submitter Global developmental delay
- p.Leu600Val Single submitter Moderate intellectual disability
- p.Leu644Pro Single submitter Global developmental delay
- p.Thr462fs Single submitter neurodevelopmental disorder with or without variable movement or behavioral abnormalities
- p.Tyr372Ter Single submitter Motor tics
Pathogenic/Likely pathogenic 2
- p.Leu533del Multiple submitters KCNN2-related disorder
- p.Tyr573Cys Multiple submitters neurodevelopmental disorder with or without variable movement or behavioral abnormalities
Likely pathogenic 10
- c.1890+2T>C Multiple submitters Moderate intellectual disability
- p.Gly591Arg Single submitter neurodevelopmental disorder
- p.Ile500Ser Single submitter Motor tics
- p.Lys616_His617insGluLeuThrLysAlaGluLys Single submitter dystonia 34, myoclonic
- p.Ser183Ter Single submitter neurodevelopmental disorder with or without variable movement or behavioral abnormalities
- p.Thr567_Phe568insThr Single submitter
- p.Trp562Leu Single submitter neurodevelopmental disorder with or without variable movement or behavioral abnormalities
- p.Tyr423fs Single submitter
- p.Val660fs Single submitter neurodevelopmental disorder with or without variable movement or behavioral abnormalities
- c.1780-2A>G No assertion criteria dystonia 34, myoclonic
Conflicting classifications of pathogenicity 5
- p.Arg665Ter Single submitter Inborn genetic diseases
- p.Ile500Thr Single submitter Inborn genetic diseases ⚠
- p.Ile571Met Single submitter Motor tics ⚠
- p.Ser118Leu Single submitter neurodevelopmental disorder with or without variable movement or behavioral abnormalities
- p.Thr782Ala Single submitter dystonia 34, myoclonic
Benign 2
- p.Ala270dup Multiple submitters
- p.Phe751= Single submitter
Likely benign 32
- c.1890+11A>T Single submitter
- c.1890+19A>G Single submitter
- c.-3C>T Single submitter
- p.Ala201= Single submitter
- p.Ala265= Single submitter
- p.Ala270_Val271insAlaAla Single submitter
- p.Arg233Cys Single submitter neurodevelopmental disorder with or without variable movement or behavioral abnormalities ⚠
- p.Arg771Gln Single submitter Inborn genetic diseases
- p.Arg777Trp Single submitter
- p.Gln38His Single submitter
- p.Gly109Arg Single submitter
- p.Gly96= Single submitter
- p.His401= Single submitter
- p.His734= Single submitter
- p.Ile719Thr Single submitter
- p.Ile752Thr Single submitter
- p.Leu139Pro Single submitter
- p.Leu339= Single submitter
- p.Leu5= Single submitter
- p.Lys320= Single submitter
- p.Lys324= Single submitter
- p.Lys647Arg Single submitter Inborn genetic diseases ⚠
- p.Lys678= Single submitter
- p.Pro199= Single submitter
- p.Ser104= Single submitter
- p.Ser110Leu Single submitter
- p.Ser118= Single submitter
- p.Ser147Tyr Single submitter
- p.Ser151= Single submitter
- p.Ser565= Single submitter
- p.Ser781= Single submitter
- p.Thr642= Single submitter
Uncertain significance 163
- c.1890+3_1890+6dup Multiple submitters neurodevelopmental disorder with or without variable movement or behavioral abnormalities
- p.Arg233Leu Multiple submitters Inborn genetic diseases ⚠
- p.Asn412Ser Multiple submitters KCNN2-related Neurodevelopmental movement disorder ⚠
- p.Gln146_Ser147insTyrAlaGlnGln Multiple submitters dystonia 34, myoclonic
- p.Gln15Ter Multiple submitters neurodevelopmental disorder with or without variable movement or behavioral abnormalities
- p.Ile730Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile744Met Multiple submitters Inborn genetic diseases ⚠
- p.Lys332Arg Multiple submitters Inborn genetic diseases ⚠
- p.Pro248Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser281Cys Multiple submitters ⚠
- p.Ser281Phe Multiple submitters Inborn genetic diseases ⚠
- p.Ser788Pro Multiple submitters Inborn genetic diseases ⚠
- c.1219-16_1379del Single submitter
- c.1779+3_1779+6del Single submitter neurodevelopmental disorder with or without variable movement or behavioral abnormalities
- c.2019-2A>G Single submitter
- c.22+9G>A Single submitter
- c.23-4G>A Single submitter
- c.-45G>A Single submitter
- p.Ala250fs Single submitter
- p.Ala258Val Single submitter Inborn genetic diseases ⚠
- p.Ala268_Ala269insSer Single submitter neurodevelopmental disorder with or without variable movement or behavioral abnormalities
- p.Ala270_Val271insAla Single submitter dystonia 34, myoclonic
- p.Ala270_Val271insAlaAlaAla Single submitter
- p.Ala270Thr Single submitter Inborn genetic diseases ⚠
- p.Ala275Val Single submitter ⚠
- p.Ala350Thr Single submitter ⚠
- p.Ala451Val Single submitter ⚠
- p.Ala464Gly Single submitter Inborn genetic diseases ⚠
- p.Arg140Pro Single submitter
- p.Arg224Gly Single submitter Inborn genetic diseases ⚠
- p.Arg403Gly Single submitter ⚠
- p.Arg425His Single submitter dystonia 34, myoclonic ⚠
- p.Arg745Gly Single submitter neurodevelopmental disorder with or without variable movement or behavioral abnormalities ⚠
- p.Arg769Gln Single submitter neurodevelopmental disorder with or without variable movement or behavioral abnormalities ⚠
- p.Arg769Trp Single submitter Inborn genetic diseases ⚠
- p.Arg771Trp Single submitter Inborn genetic diseases ⚠
- p.Arg775Trp Single submitter Inborn genetic diseases ⚠
- p.Arg777Gln Single submitter Inborn genetic diseases ⚠
- p.Arg777Leu Single submitter
- p.Arg778Trp Single submitter Inborn genetic diseases
- p.Arg9Gly Single submitter
- p.Asn286Ser Single submitter ⚠
- p.Asn289Ser Single submitter neurodevelopmental disorder with or without variable movement or behavioral abnormalities ⚠
- p.Asn412Asp Single submitter ⚠
- p.Asn509Ile Single submitter neurodevelopmental disorder with or without variable movement or behavioral abnormalities ⚠
- p.Asn699Ser Single submitter ⚠
- p.Asn85Asp Single submitter
- p.Asp240His Single submitter Inborn genetic diseases ⚠
- p.Asp373Gly Single submitter Inborn genetic diseases ⚠
- p.Asp411Tyr Single submitter neurodevelopmental disorder with or without variable movement or behavioral abnormalities ⚠
- p.Asp760Asn Single submitter Inborn genetic diseases ⚠
- p.Asp760fs Single submitter
- p.Cys117_Ser118insCys Single submitter neurodevelopmental disorder with or without variable movement or behavioral abnormalities
- p.Cys66Ser Single submitter
- p.Gln198His Single submitter neurodevelopmental disorder with or without variable movement or behavioral abnormalities
- p.Gln327Arg Single submitter Inborn genetic diseases
- p.Gln327Glu Single submitter ⚠
- p.Gln32Leu Single submitter
- p.Gln551Pro Single submitter ⚠
- p.Gln748Ter Single submitter
- p.Glu204Gly Single submitter neurodevelopmental disorder with or without variable movement or behavioral abnormalities
- p.Glu242fs Single submitter
- p.Glu242Gln Single submitter Inborn genetic diseases
- p.Glu424Gln Single submitter Inborn genetic diseases ⚠
- p.Glu610Ala Single submitter ⚠
- p.Glu716Gln Single submitter ⚠
- p.Gly174Ser Single submitter neurodevelopmental disorder with or without variable movement or behavioral abnormalities
- p.Gly221Cys Single submitter Inborn genetic diseases ⚠
- p.Gly254Glu Single submitter ⚠
- p.Gly255Arg Single submitter Inborn genetic diseases ⚠
- p.Gly300Ala Single submitter ⚠
- p.Gly307Ser Single submitter ⚠
- p.Gly308Ser Single submitter Inborn genetic diseases ⚠
- p.Gly312Arg Single submitter Inborn genetic diseases ⚠
- p.Gly314Arg Single submitter ⚠
- p.Gly330Ser Single submitter Inborn genetic diseases ⚠
- p.Gly334Ser Single submitter Inborn genetic diseases ⚠
- p.Gly572Ser Single submitter ⚠
- p.Gly583Glu Single submitter dystonia 34, myoclonic ⚠
- p.Gly594Arg Single submitter ⚠
- p.Gly596Ser Single submitter ⚠
- p.Gly62Arg Single submitter
- p.Gly731Ser Single submitter ⚠
- p.Gly738Arg Single submitter Inborn genetic diseases ⚠
- p.His335Arg Single submitter ⚠
- p.His48Gln Single submitter
- p.His49Tyr Single submitter
- p.His55Tyr Single submitter
- p.His657Arg Single submitter neurodevelopmental disorder with or without variable movement or behavioral abnormalities ⚠
- p.His663Leu Single submitter ⚠
- p.Ile352Val Single submitter KCNN2-related disorder
- p.Ile358Phe Single submitter ⚠
- p.Ile398Thr Single submitter neurodevelopmental disorder with or without variable movement or behavioral abnormalities ⚠
- p.Ile433Met Single submitter ⚠
- p.Ile571Val Single submitter ⚠
- p.Ile705Phe Single submitter Inborn genetic diseases ⚠
- p.Ile730fs Single submitter
- p.Leu339Met Single submitter Inborn genetic diseases ⚠
- p.Leu339Val Single submitter ⚠
- p.Leu470Val Single submitter ⚠
- p.Leu476Val Single submitter neurodevelopmental disorder with or without variable movement or behavioral abnormalities ⚠
- p.Leu611Ile Single submitter Inborn genetic diseases ⚠
- p.Leu684Met Single submitter Inborn genetic diseases ⚠
- p.Leu691Ser Single submitter Inborn genetic diseases ⚠
- p.Lys324Arg Single submitter ⚠
- p.Lys344Arg Single submitter Inborn genetic diseases ⚠
- p.Lys584Ile Single submitter Inborn genetic diseases ⚠
- p.Lys659Arg Single submitter Inborn genetic diseases ⚠
- p.Met213Val Single submitter
- p.Met223Thr Single submitter Inborn genetic diseases ⚠
- p.Met239Val Single submitter Inborn genetic diseases ⚠
- p.Met361Ile Single submitter ⚠
- p.Met409Val Single submitter Inborn genetic diseases ⚠
- p.Met623Thr Single submitter Inborn genetic diseases ⚠
- p.Met756Arg Single submitter Inborn genetic diseases ⚠
- p.Phe715Ser Single submitter Inborn genetic diseases ⚠
- p.Pro13Ala Single submitter
- p.Pro18Ser Single submitter
- p.Pro191Leu Single submitter neurodevelopmental disorder with or without variable movement or behavioral abnormalities
- p.Pro225Leu Single submitter ⚠
- p.Pro245Arg Single submitter Inborn genetic diseases ⚠
- p.Pro248His Single submitter Inborn genetic diseases ⚠
- p.Pro261Ala Single submitter neurodevelopmental disorder with or without variable movement or behavioral abnormalities ⚠
- p.Pro261Arg Single submitter ⚠
- p.Pro276Arg Single submitter Inborn genetic diseases
- p.Pro39Ser Single submitter
- p.Pro40His Single submitter
- p.Pro40Ser Single submitter neurodevelopmental disorder with or without variable movement or behavioral abnormalities
- p.Pro442Leu Single submitter ⚠
- p.Pro442Ser Single submitter ⚠
- p.Ser105Leu Single submitter
- p.Ser111Ala Single submitter neurodevelopmental disorder with or without variable movement or behavioral abnormalities
- p.Ser128Asn Single submitter
- p.Ser137Thr Single submitter
- p.Ser162Thr Single submitter
- p.Ser178Phe Single submitter neurodevelopmental disorder with or without variable movement or behavioral abnormalities
- p.Ser183Pro Single submitter dystonia 34, myoclonic
- p.Ser273Ala Single submitter ⚠
- p.Ser311Cys Single submitter Inborn genetic diseases ⚠
- p.Ser321Ala Single submitter ⚠
- p.Ser35Pro Single submitter
- p.Ser389Phe Single submitter Inborn genetic diseases ⚠
- p.Ser499Asn Single submitter ⚠
- p.Ser570Pro Single submitter ⚠
- p.Ser74Phe Single submitter neurodevelopmental disorder with or without variable movement or behavioral abnormalities
- p.Ser770Pro Single submitter Inborn genetic diseases ⚠
- p.Ser773Leu Single submitter Inborn genetic diseases ⚠
- p.Thr302Pro Single submitter Inborn genetic diseases ⚠
- p.Thr390Met Single submitter Inborn genetic diseases ⚠
- p.Thr590Asn Single submitter ⚠
- p.Thr728Ile Single submitter Inborn genetic diseases ⚠
- p.Thr786Ala Single submitter Inborn genetic diseases
- p.Trp562Cys Single submitter ⚠
- p.Tyr143Ser Single submitter neurodevelopmental disorder with or without variable movement or behavioral abnormalities
- p.Tyr294Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr581His Single submitter ⚠
- p.Tyr765Cys Single submitter neurodevelopmental disorder with or without variable movement or behavioral abnormalities ⚠
- p.Val280Leu Single submitter
- p.Val280Met Single submitter Inborn genetic diseases ⚠
- p.Val359Leu Single submitter Inborn genetic diseases ⚠
- p.Val618Met Single submitter Inborn genetic diseases ⚠
- p.Val652Leu Single submitter
- p.Ser168fs No assertion criteria KCNN2-related disorder