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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VWA1
(G25fs)
Microsatellite
(frameshift variant)
Neuronopathy, distal hereditary motor
+3 more
GPathogenic/Likely pathogenic
VWA1
(L390fs)
Deletion
(frameshift variant +1 more)
Neuronopathy, distal hereditary motor, autosomal recessive 7
GLikely pathogenic