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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CNN1
(R30W)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CNN1
(R30Q)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CNN1
(D104N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CNN1
(D104V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CNN1
(I105V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CNN1
(P104Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CNN1
(K172N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CNN1
(T130M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CNN1
(R135Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CNN1
(R136C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CNN1
(N192S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CNN1
(V193I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CNN1
(L195Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CNN1
(G207D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CNN1
(H239D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CNN1
(Y244H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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