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Links from MedGen

Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CDC42
(D76V)
Single nucleotide variant
(missense variant)
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
GLikely pathogenic
CDC42, LOC122056785
(F169L)
Single nucleotide variant
(missense variant +1 more)
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
GUncertain significance
CDC42
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
CDC42
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
CDC42
(P34Q)
Single nucleotide variant
(missense variant)
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
+2 more
GConflicting classifications of pathogenicity
CDC42, LOC122056785
(F169fs)
Deletion
(frameshift variant +1 more)
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
GUncertain significance
CDC42
(I46T)
Single nucleotide variant
(missense variant)
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
GLikely pathogenic
CDC42
(E171K)
Single nucleotide variant
(missense variant)
Noonan-like syndrome
GPathogenic
CDC42
(S83P)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
CDC42
(R68Q)
Single nucleotide variant
(missense variant)
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
+1 more
GPathogenic/Likely pathogenic
CDC42
(C81F)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
CDC42
(I21T)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
CDC42
(Y64C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
CDC42
(Y23C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GPathogenic
CDC42
(R66G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GPathogenic
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