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Items: 67

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AP4E1, ATP8B4
+190 more
Copy number loss
See cases
GPathogenic
HDC
(C616Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HDC
(V559A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HDC
(P591S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HDC
Single nucleotide variant
(synonymous variant)
not provided
GBenign
HDC
(T577S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HDC
(D526N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HDC
(F553L +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
HDC
Single nucleotide variant
(synonymous variant)
HDC-related disorder
GBenign
HDC
(R495H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HDC
(I490N +1 more)
Single nucleotide variant
(missense variant)
Tourette syndrome
GUncertain significance
HDC
(A519G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HDC
(A486S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HDC
Single nucleotide variant
(synonymous variant)
HDC-related disorder
GLikely benign
HDC
(T471M +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
HDC
(T471K +1 more)
Single nucleotide variant
(missense variant)
Tourette syndrome
GUncertain significance
HDC
(I461V +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
HDC
(R453W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HDC
(T480A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HDC
(R412C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HDC
(V378G)
Single nucleotide variant
(missense variant +1 more)
Tourette syndrome
GUncertain significance
HDC
(V360L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HDC
(W317*)
Single nucleotide variant
(nonsense)
Tourette syndrome
GPathogenic
HDC
(D297N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HDC
(P284T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HDC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HDC
(R265L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HDC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HDC
(R234Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HDC
(Q233E)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
HDC
Single nucleotide variant
(synonymous variant)
HDC-related disorder
GLikely benign
HDC
(A187V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HDC
(R184Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HDC
(D175G)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
HDC
(D175N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HDC
(E168Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HDC
(T154A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HDC
(V119I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HDC
(F58S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HDC
(D50A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HDC
(T31M)
Single nucleotide variant
(missense variant)
HDC-related disorder
+1 more
GBenign
HDC
(R26W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HDC
Single nucleotide variant
(synonymous variant)
HDC-related disorder
+1 more
GLikely benign
HDC
Single nucleotide variant
(splice acceptor variant)
Tourette syndrome
GLikely pathogenic
HDC
(E6D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HDC
(P4T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HDC
(M2T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMOD2, USP50
+43 more
Copy number loss
not provided
GPathogenic
ADAL, AFG2B
+103 more
Deletion
not provided
GPathogenic
AP4E1, ATP8B4
+10 more
Copy number loss
not provided
GUncertain significance
ADAM10, ALDH1A2
+82 more
Copy number gain
not provided
GPathogenic
GABPB1, HDC
+3 more
Copy number loss
Neurodevelopmental delay
GUncertain significance
AP4E1, ATP8B4
+16 more
Copy number loss
not specified
GUncertain significance
CEP152, COPS2
+52 more
Copy number loss
not specified
GPathogenic
ALDH1A2, ALPK3
+472 more
Duplication
Familial colorectal cancer
+1 more
GUncertain significance
AP4E1, ARPP19
+35 more
Copy number loss
not provided
GPathogenic
ATP8B4, CEP152
+20 more
Copy number loss
not provided
GPathogenic
AP4E1, ARPP19
+47 more
Copy number gain
not provided
GPathogenic
AP4E1, ARPP19
+24 more
Copy number loss
not provided
GUncertain significance
ADAM10, ALDH1A2
+76 more
Copy number gain
not provided
GPathogenic
AP4E1, ARPP19
+76 more
Copy number loss
not provided
GPathogenic
AAGAB, ABHD17C
+523 more
Duplication
not provided
GPathogenic
AAGAB, ABHD17C
+559 more
Copy number gain
See cases
GPathogenic
AAGAB, ABHD17C
+559 more
Copy number gain
See cases
GPathogenic
ADAL, AFG2B
+107 more
Copy number loss
See cases
GPathogenic
CSK, CSNK1G1
+566 more
Copy number gain
See cases
GPathogenic
TRPM7, TSPAN3
+444 more
Copy number gain
See cases
GPathogenic
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