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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
UFC1
(N46del)
Microsatellite
(inframe_deletion)
Neurodevelopmental disorder with spasticity and poor growth
GPathogenic
UFC1, LOC126805894
(P14L)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with spasticity and poor growth
GUncertain significance
UFC1
(N51K)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with spasticity and poor growth
GUncertain significance
LOC126805894, UFC1
(R23Q)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with spasticity and poor growth
GPathogenic
UFC1
(T106I)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with spasticity and poor growth
GPathogenic
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