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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BSCL2, HNRNPUL2-BSCL2
(L427P +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Charcot-Marie-Tooth disease type 2
+10 more
GConflicting classifications of pathogenicity
BSCL2, HNRNPUL2-BSCL2
(N88S +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Neuronopathy, distal hereditary motor, type 5C
+8 more
GPathogenic
BSCL2, HNRNPUL2-BSCL2
(R42C)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
+3 more
GConflicting classifications of pathogenicity
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