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Items: 36

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RFWD3
(Q463H +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RFWD3
(T659A +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RFWD3
(V438M +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
RFWD3
(I403V +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
RFWD3
(R673Q +2 more)
Single nucleotide variant
(missense variant)
RFWD3-related condition
+2 more
GConflicting classifications of pathogenicity
RFWD3
(S387N +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFWD3
(D336N +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
RFWD3
(Q299H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
RFWD3
(C545Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
RFWD3
(V254M +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
RFWD3
(S507T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFWD3
(M495V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
RFWD3
(G198V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFWD3
(S460I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFWD3
(R173L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFWD3
(R369S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFWD3
(R357H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RFWD3
(S337N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFWD3
(T40M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RFWD3
(I38L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFWD3
(Y313H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFWD3
(G258D)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
RFWD3
(I255V)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
RFWD3
(A244V)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
RFWD3
(V228I)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
RFWD3
(P177S)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
RFWD3
(N122S)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
RFWD3
(Q64E)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
RFWD3
(P55A)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
RFWD3
(V43L)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
RFWD3
(P40L)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
RFWD3
(P40A)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+1 more
GUncertain significance
RFWD3
(Q37R)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
RFWD3
(G32E)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
RFWD3
(E18D)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
RFWD3
(V10D)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
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