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Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CAMTA1
Single nucleotide variant
(splice donor variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GLikely pathogenic
CAMTA1
(G186W +2 more)
Single nucleotide variant
(missense variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
(N231S +2 more)
Single nucleotide variant
(missense variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
(E312K +2 more)
Single nucleotide variant
(missense variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
(D339N +2 more)
Single nucleotide variant
(missense variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
(V430M +2 more)
Single nucleotide variant
(missense variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
(A534T +2 more)
Single nucleotide variant
(missense variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
(V613M +2 more)
Single nucleotide variant
(missense variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
(P707L +2 more)
Single nucleotide variant
(missense variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
(R839W +2 more)
Single nucleotide variant
(missense variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
(W865* +1 more)
Single nucleotide variant
(nonsense +1 more)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GLikely pathogenic
CAMTA1
(Q866R +2 more)
Single nucleotide variant
(missense variant +1 more)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
Single nucleotide variant
(synonymous variant +1 more)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
(V1336F +7 more)
Single nucleotide variant
(missense variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
(A1350V +6 more)
Single nucleotide variant
(missense variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
+1 more
GConflicting classifications of pathogenicity
CAMTA1
(S1361N +7 more)
Single nucleotide variant
(missense variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
(R1413C +7 more)
Single nucleotide variant
(missense variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
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