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Links from MedGen

Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OTUD5
(P20T)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
OTUD5
(K219N +1 more)
Single nucleotide variant
(missense variant)
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked
GUncertain significance
OTUD5
(H242N +2 more)
Single nucleotide variant
(missense variant)
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked
GUncertain significance
OTUD5
(R520W +2 more)
Single nucleotide variant
(missense variant)
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked
+2 more
GConflicting classifications of pathogenicity
OTUD5
(K219E +1 more)
Single nucleotide variant
(missense variant)
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked
GUncertain significance
OTUD5
(P287L +2 more)
Single nucleotide variant
(missense variant)
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked
GUncertain significance
OTUD5
(G164D)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked
GUncertain significance
OTUD5
(D51N)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked
GUncertain significance
OTUD5
(Q276* +2 more)
Single nucleotide variant
(nonsense)
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked
GPathogenic
OTUD5
(R404W +2 more)
Single nucleotide variant
(missense variant)
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked
GPathogenic
OTUD5
(R274W +1 more)
Single nucleotide variant
(missense variant)
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked
GPathogenic
OTUD5
(L352P +2 more)
Single nucleotide variant
(missense variant)
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked
GPathogenic
OTUD5
(G494S +2 more)
Single nucleotide variant
(missense variant)
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked
GPathogenic
OTUD5
(E200K)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked
GPathogenic
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