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Items: 1 to 100 of 117

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129929105, LOC129929106
+2149 more
Copy number gain
Trisomy 12p
GPathogenic
EMC1-AS1, FAM43B
+221 more
Copy number loss
See cases
GPathogenic
ALPL, C1QA
+60 more
Copy number loss
See cases
GUncertain significance
CDC42, CELA3A
+9 more
Copy number gain
not provided
GUncertain significance
CDC42
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDC42
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDC42
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDC42
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDC42
(I21T)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
CDC42
(Y23N)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
CDC42
(Y23C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GPathogenic
CDC42
(T24P)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
CDC42
(P34L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDC42
(P34Q)
Single nucleotide variant
(missense variant)
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
+2 more
GConflicting classifications of pathogenicity
CDC42
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDC42
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDC42
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDC42
Single nucleotide variant
(intron variant)
not provided
GBenign
CDC42
Single nucleotide variant
(intron variant)
not provided
GBenign
CDC42
Single nucleotide variant
(intron variant)
not provided
GBenign
CDC42
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDC42
Duplication
(intron variant)
CDC42-related condition
+1 more
GBenign/Likely benign
CDC42
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDC42
Single nucleotide variant
(intron variant)
not provided
GBenign
CDC42
(V42I)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
CDC42
(I46T)
Single nucleotide variant
(missense variant)
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
GLikely pathogenic
CDC42
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDC42
Single nucleotide variant
(intron variant)
not provided
GBenign
CDC42
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDC42
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDC42
(E62Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDC42
(Y64C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
CDC42
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDC42
(R66G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GPathogenic
CDC42
(R68Q)
Single nucleotide variant
(missense variant)
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
+1 more
GPathogenic/Likely pathogenic
CDC42
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CDC42
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDC42
(D76V)
Single nucleotide variant
(missense variant)
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
GLikely pathogenic
CDC42
(C81F)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
CDC42
(S83P)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
CDC42
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDC42
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CDC42
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDC42
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDC42
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDC42
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDC42
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDC42
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDC42
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDC42
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDC42
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDC42
Deletion
(intron variant)
not provided
GBenign
CDC42
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDC42
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDC42
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDC42
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDC42
(Q116E)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
CDC42
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CDC42
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDC42
(R120K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDC42
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDC42
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDC42
(S124F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDC42
(A130V)
Single nucleotide variant
(missense variant)
CDC42-related condition
GUncertain significance
CDC42
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDC42
(I137V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDC42
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDC42
(P139S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDC42
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDC42
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CDC42
(E156D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDC42
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDC42
(C157Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDC42
(A159V)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
CDC42
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
CDC42
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CDC42
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDC42
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDC42
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC122056785, CDC42
Single nucleotide variant
(intron variant)
Inborn genetic diseases
GLikely benign
CDC42, LOC122056785
Single nucleotide variant
(intron variant +1 more)
not provided
GUncertain significance
CDC42, LOC122056785
(F169fs)
Deletion
(frameshift variant +1 more)
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
GUncertain significance
CDC42, LOC122056785
(F169L)
Single nucleotide variant
(missense variant +1 more)
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
GUncertain significance
CDC42
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDC42
Deletion
(intron variant)
not provided
GBenign
CDC42
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDC42
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
CDC42
(D170G)
Single nucleotide variant
(missense variant)
See cases
GLikely pathogenic
CDC42
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
CDC42
(E171K)
Single nucleotide variant
(missense variant)
Noonan-like syndrome
GPathogenic
CDC42
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
CDC42
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDC42
(P182L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDC42
(P182Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDC42
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDC42
(S185fs)
Duplication
(frameshift variant)
CDC42-related disorders
GLikely pathogenic
CDC42
(R186C)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
CDC42
(R186H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDC42
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDC42
(C188Y)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
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