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Items: 56

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TAOK1
(R46*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
TAOK1
(N51K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TAOK1
(I56F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TAOK1
(I83V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TAOK1
(L103F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TAOK1
(H143fs)
Duplication
(frameshift variant)
not provided
GLikely pathogenic
TAOK1
(D151Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TAOK1
(N156S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TAOK1
(Q164H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TAOK1
(V165M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TAOK1
(P186L)
Single nucleotide variant
(missense variant)
Developmental delay with or without intellectual impairment or behavioral abnormalities
+1 more
GConflicting classifications of pathogenicity
TAOK1
(D207V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TAOK1
(C215Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TAOK1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TAOK1
(M231V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TAOK1
(R255H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TAOK1
(R269Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TAOK1
(R285C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TAOK1
(R310*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
TAOK1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
TAOK1
(P355L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TAOK1
(A361D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TAOK1
(S367R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TAOK1
(P419Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TAOK1
(R435*)
Single nucleotide variant
(nonsense)
Global developmental delay
+5 more
GPathogenic/Likely pathogenic
TAOK1
(R442W)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
TAOK1
(D457E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TAOK1
(R472Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TAOK1
(R605*)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
TAOK1
(R616C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TAOK1
(N639S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TAOK1
(Q660H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TAOK1
(Q681*)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
TAOK1
(E685A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TAOK1
(R695*)
Single nucleotide variant
(nonsense +1 more)
Inborn genetic diseases
+1 more
GPathogenic
TAOK1
(S714R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TAOK1
(Q579* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
TAOK1
(E604fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
TAOK1
(L640Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TAOK1
(Q651H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TAOK1
(E687* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
TAOK1
(Q688R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TAOK1
Single nucleotide variant
(intron variant)
not provided
GBenign
TAOK1
(R712C +1 more)
Single nucleotide variant
(missense variant)
Developmental delay with or without intellectual impairment or behavioral abnormalities
+1 more
GUncertain significance
TAOK1
(R712H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TAOK1
(R717* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
TAOK1
(P770L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TAOK1
(G780S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TAOK1
(W796G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TAOK1
(G801R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TAOK1
(M850V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TAOK1
(S210P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TAOK1
(M742T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TAOK1
(H798Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TAOK1
(S66F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TAOK1
(P749S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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