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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CC2D1A
(A189V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
CC2D1A
(S327L)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 3
+4 more
GBenign/Likely benign
CC2D1A
(V449M)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 3
+3 more
GUncertain significance
CC2D1A
(D656N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CC2D1A
(G781A)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
CC2D1A
(R903W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CC2D1A
(R922C)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
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