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Items: 61

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD14A, ABHD14A-ACY1
+329 more
Copy number loss
See cases
GPathogenic
ABHD14A, ABHD14A-ACY1
+197 more
Copy number loss
See cases
GLikely pathogenic
NEK4
(R724H +3 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
NEK4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NEK4
(R788H +3 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
NEK4
(G668E +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK4
(L672P +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK4
(K635R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK4
(V627I +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK4
(T685I +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK4
(S636T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK4
(C629Y +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK4
(I584fs +3 more)
Duplication
(frameshift variant)
Ciliopathy
GLikely pathogenic
NEK4
(R577W +3 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
NEK4
(Q564H +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK4
(G555R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK4
(R620Q +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK4
(L524S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK4
(D528H +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK4
(R501H +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK4
(Q494R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK4
(H546R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK4
(T455S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK4
(R537W +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK4
(R445Q +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK4
(N436S +3 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
NEK4
(D431G +3 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
NEK4
(I429T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK4
(K374R +2 more)
Single nucleotide variant
(missense variant +1 more)
EBV-positive nodal T- and NK-cell lymphoma
GLikely benign
NEK4
(Q356R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK4
(S313T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK4
(I280V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK4
(L180S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK4
(F178V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK4
(T151P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK4
(L145P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK4
(M122I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK4
(D210N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK4
(N180K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK4
(R154* +2 more)
Single nucleotide variant
(nonsense)
not provided
Gnot provided
NEK4
(K146E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK4
(I63V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK4
(H40R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK4
(Q98R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NEK4
(Y80C)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NEK4
(E51Q)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NEK4
(R47W)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NEK4
(R26Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NEK4
(H25Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NEK4
(Y6H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABHD14A, ABHD14B
+86 more
Copy number loss
not specified
GPathogenic
ALAS1, BAP1
+28 more
Deletion
RFT1-congenital disorder of glycosylation
GUncertain significance
ACY1, ALAS1
+35 more
Deletion
not provided
GUncertain significance
DCP1A, ITIH1
+10 more
Copy number gain
not provided
GUncertain significance
DCP1A, ITIH1
+10 more
Copy number gain
not provided
GUncertain significance
ABHD14A, ABHD14B
+48 more
Copy number gain
not provided
GUncertain significance
ALAS1, BAP1
+24 more
Copy number loss
not provided
GPathogenic
APEH, HEMK1
+177 more
Copy number gain
not provided
GPathogenic
HHLA2, HIGD1A
+1054 more
Copy number gain
See cases
GPathogenic
A4GNT, AADAC
+1054 more
Copy number gain
See cases
GPathogenic
ABHD6, ACOX2
+66 more
Copy number loss
See cases
GPathogenic
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