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Links from MedGen

Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TAOK1
(L218P)
Single nucleotide variant
(missense variant)
Developmental delay with or without intellectual impairment or behavioral abnormalities
GLikely pathogenic
TAOK1
(M231K)
Single nucleotide variant
(missense variant)
Developmental delay with or without intellectual impairment or behavioral abnormalities
GLikely pathogenic
FAM222B, FLOT2
+41 more
Copy number gain
Developmental delay with or without intellectual impairment or behavioral abnormalities
GUncertain significance
TAOK1
Copy number loss
Developmental delay with or without intellectual impairment or behavioral abnormalities
GPathogenic
TAOK1
Copy number loss
Developmental delay with or without intellectual impairment or behavioral abnormalities
GLikely pathogenic
TAOK1
(R712C +1 more)
Single nucleotide variant
(missense variant)
Developmental delay with or without intellectual impairment or behavioral abnormalities
GUncertain significance
TAOK1
(N639fs)
Duplication
(frameshift variant +1 more)
Developmental delay with or without intellectual impairment or behavioral abnormalities
GLikely pathogenic
TAOK1
(E220*)
Single nucleotide variant
(nonsense)
Developmental delay with or without intellectual impairment or behavioral abnormalities
GLikely pathogenic
TAOK1
(L663V +1 more)
Single nucleotide variant
(missense variant)
Developmental delay with or without intellectual impairment or behavioral abnormalities
GUncertain significance
TAOK1
(P422fs)
Microsatellite
(frameshift variant)
Developmental delay with or without intellectual impairment or behavioral abnormalities
GLikely pathogenic
TAOK1
Single nucleotide variant
(splice donor variant)
Developmental delay with or without intellectual impairment or behavioral abnormalities
GLikely pathogenic
TAOK1
(R6fs)
Microsatellite
(frameshift variant)
Developmental delay with or without intellectual impairment or behavioral abnormalities
GPathogenic
TAOK1
(G758R +1 more)
Single nucleotide variant
(missense variant)
Developmental delay with or without intellectual impairment or behavioral abnormalities
GUncertain significance
TAOK1
Deletion
Developmental delay with or without intellectual impairment or behavioral abnormalities
GUncertain significance
TAOK1
Single nucleotide variant
(3 prime UTR variant)
Developmental delay with or without intellectual impairment or behavioral abnormalities
GUncertain significance
TAOK1
(W209*)
Single nucleotide variant
(nonsense)
Developmental delay with or without intellectual impairment or behavioral abnormalities
GPathogenic
TAOK1
(R587fs +1 more)
Deletion
(frameshift variant)
Developmental delay with or without intellectual impairment or behavioral abnormalities
GLikely pathogenic
TAOK1
(R698*)
Single nucleotide variant
(nonsense +1 more)
Developmental delay with or without intellectual impairment or behavioral abnormalities
GLikely pathogenic
TAOK1
(K75E)
Single nucleotide variant
(missense variant)
Developmental delay with or without intellectual impairment or behavioral abnormalities
GUncertain significance
TAOK1
Deletion
(splice donor variant)
Developmental delay with or without intellectual impairment or behavioral abnormalities
GLikely pathogenic
TAOK1
(L548P)
Single nucleotide variant
(missense variant)
Developmental delay with or without intellectual impairment or behavioral abnormalities
GPathogenic
TAOK1
(L642fs +1 more)
Insertion
(frameshift variant)
Developmental delay with or without intellectual impairment or behavioral abnormalities
GPathogenic
TAOK1
(M197L)
Single nucleotide variant
(missense variant)
Global developmental delay
+1 more
GLikely pathogenic
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