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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EMILIN1
(R566Q)
Single nucleotide variant
(missense variant)
Neuronopathy, distal hereditary motor, autosomal dominant 10
GUncertain significance
EMILIN1
Single nucleotide variant
(missense variant)
Neuronopathy, distal hereditary motor, autosomal dominant 10
GPathogenic
EMILIN1
(A22T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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