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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CAMTA1
(V240M +1 more)
Single nucleotide variant
(missense variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
+2 more
GUncertain significance
CAMTA1
(E284K +1 more)
Single nucleotide variant
(missense variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
(S366N +1 more)
Single nucleotide variant
(missense variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
(R490Q +1 more)
Single nucleotide variant
(missense variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
+1 more
GConflicting classifications of pathogenicity
CAMTA1
(Q580* +2 more)
Single nucleotide variant
(nonsense)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GPathogenic
CAMTA1
(Y715* +2 more)
Single nucleotide variant
(nonsense)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GLikely pathogenic
CAMTA1
(C794R +1 more)
Single nucleotide variant
(missense variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
(V907A +1 more)
Single nucleotide variant
(missense variant +1 more)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
(L1144P +4 more)
Single nucleotide variant
(missense variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1, LOC126805603
(R322W +3 more)
Single nucleotide variant
(missense variant +1 more)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
+2 more
GUncertain significance
CAMTA1
(E1354Q +7 more)
Single nucleotide variant
(missense variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
(Y1558* +6 more)
Single nucleotide variant
(nonsense)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GLikely pathogenic
CAMTA1
(R1659S +7 more)
Single nucleotide variant
(missense variant +1 more)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
+2 more
GUncertain significance
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