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Links from MedGen

Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DHX16
(F101del +2 more)
Microsatellite
(inframe_deletion)
Neuromuscular disease and ocular or auditory anomalies with or without seizures
GUncertain significance
DHX16
(I462V +2 more)
Single nucleotide variant
(missense variant)
Neuromuscular disease and ocular or auditory anomalies with or without seizures
GUncertain significance
DHX16
(K477E +2 more)
Single nucleotide variant
(missense variant)
Neuromuscular disease and ocular or auditory anomalies with or without seizures
GUncertain significance
DHX16
(E216K +1 more)
Single nucleotide variant
(missense variant +1 more)
Neuromuscular disease and ocular or auditory anomalies with or without seizures
GUncertain significance
DHX16
(E197G +2 more)
Single nucleotide variant
(missense variant)
Neuromuscular disease and ocular or auditory anomalies with or without seizures
GLikely pathogenic
DHX16
Single nucleotide variant
(splice acceptor variant)
Neuromuscular disease and ocular or auditory anomalies with or without seizures
GUncertain significance
DHX16
(S449N +2 more)
Single nucleotide variant
(missense variant)
Neuromuscular disease and ocular or auditory anomalies with or without seizures
GUncertain significance
DHX16
Single nucleotide variant
(intron variant)
Neuromuscular disease and ocular or auditory anomalies with or without seizures
GUncertain significance
DHX16
(P320S +1 more)
Single nucleotide variant
(missense variant +1 more)
Neuromuscular disease and ocular or auditory anomalies with or without seizures
GUncertain significance
DHX16
(R475Q +2 more)
Single nucleotide variant
(missense variant)
Neuromuscular disease and ocular or auditory anomalies with or without seizures
+1 more
GUncertain significance
DHX16
(R459C +2 more)
Single nucleotide variant
(missense variant)
Neuromuscular disease and ocular or auditory anomalies with or without seizures
+1 more
GUncertain significance
DHX16
(K157fs +1 more)
Microsatellite
(frameshift variant +1 more)
Neuromuscular disease and ocular or auditory anomalies with or without seizures
GUncertain significance
DHX16
(R375* +2 more)
Single nucleotide variant
(nonsense)
Neuromuscular disease and ocular or auditory anomalies with or without seizures
GUncertain significance
DHX16
(T193M +2 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
DHX16
(G367E +1 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental delay
+3 more
GPathogenic/Likely pathogenic
DHX16
(Q216H +2 more)
Single nucleotide variant
(missense variant)
Neuromuscular disease and ocular or auditory anomalies with or without seizures
+4 more
GPathogenic/Likely pathogenic
DHX16
(F101I +2 more)
Single nucleotide variant
(missense variant)
Corpus callosum, agenesis of
+7 more
GPathogenic/Likely pathogenic
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