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Items: 63

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNN2
Copy number loss
Premature ovarian failure
GBenign
KCNN2
(P18S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNN2
(Q38H)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
KCNN2
(S105L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KCNN2
(S110L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KCNN2
(S111A +1 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with or without variable movement or behavioral abnormalities
GUncertain significance
KCNN2
Microsatellite
(inframe_insertion +1 more)
Neurodevelopmental disorder with or without variable movement or behavioral abnormalities
GUncertain significance
KCNN2
(S118L +1 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with or without variable movement or behavioral abnormalities
GUncertain significance
KCNN2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
KCNN2
Duplication
(inframe_insertion +1 more)
Dystonia 34, myoclonic
GUncertain significance
KCNN2
(Y143S +1 more)
Single nucleotide variant
(missense variant +1 more)
Dystonia 34, myoclonic
+1 more
GUncertain significance
KCNN2
(S168fs +1 more)
Duplication
(frameshift variant +1 more)
KCNN2-related disorder
GUncertain significance
KCNN2
(S162T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KCNN2
(S178F +1 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with or without variable movement or behavioral abnormalities
GUncertain significance
KCNN2
(P191L +1 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with or without variable movement or behavioral abnormalities
GUncertain significance
KCNN2
(Q198H +1 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with or without variable movement or behavioral abnormalities
GUncertain significance
KCNN2
(M213V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KCNN2
(R290G +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KCNN2
(P291L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KCNN2
(R233L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KCNN2
(D240H +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KCNN2
(E242fs +1 more)
Microsatellite
(frameshift variant +1 more)
not provided
GUncertain significance
KCNN2
(E242Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNN2
(A250fs +1 more)
Duplication
(frameshift variant +1 more)
not provided
GUncertain significance
KCNN2
(P314H +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KCNN2
(P248L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KCNN2
(P261R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KCNN2
Microsatellite
(inframe_insertion)
not provided
GBenign
KCNN2
Insertion
(inframe_insertion +1 more)
Dystonia 34, myoclonic
GUncertain significance
KCNN2
Insertion
(inframe_insertion +1 more)
Neurodevelopmental disorder with or without variable movement or behavioral abnormalities
GUncertain significance
KCNN2
(V280M +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KCNN2
(V280L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNN2
(S347C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KCNN2
(S281F +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
KCNN2
(N289S +1 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with or without variable movement or behavioral abnormalities
GUncertain significance
KCNN2
(T368P +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KCNN2
(G307S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KCNN2
(G312R +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KCNN2
(G314R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KCNN2
(K324R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KCNN2
(Q327E +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KCNN2
(K332R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KCNN2
(G400S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KCNN2
(H335R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KCNN2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
KCNN2
(K344R +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KCNN2
(I352V +1 more)
Single nucleotide variant
(missense variant +1 more)
KCNN2-related disorder
GUncertain significance
KCNN2
(Y372* +1 more)
Single nucleotide variant
(nonsense)
Motor tics
+3 more
GPathogenic
KCNN2
(I398T +1 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with or without variable movement or behavioral abnormalities
GUncertain significance
KCNN2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
KCNN2
(R403G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNN2
(N412S +1 more)
Single nucleotide variant
(missense variant)
KCNN2-related Neurodevelopmental movement disorder
GUncertain significance
KCNN2
(I433M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNN2
(P442S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNN2
(P442L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNN2
(T462fs +1 more)
Duplication
(frameshift variant)
Neurodevelopmental disorder with or without variable movement or behavioral abnormalities
+1 more
GPathogenic
KCNN2
(A464G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNN2
Deletion
(nonsense)
Cerebellar ataxia
+2 more
GPathogenic
KCNN2
(I566S +1 more)
Indel
(missense variant)
Intellectual disability
+3 more
GLikely pathogenic
KCNN2
(I500T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KCNN2
(L533del +1 more)
Deletion
(inframe_deletion)
KCNN2-related disorder
+2 more
GPathogenic/Likely pathogenic
KCNN2
(S183P +1 more)
Single nucleotide variant
(missense variant +1 more)
Dystonia 34, myoclonic
+1 more
GUncertain significance
KCNN2
(M361I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
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