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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BSCL2, HNRNPUL2-BSCL2
(I326fs +1 more)
Duplication
(non-coding transcript variant +2 more)
not provided
+5 more
GPathogenic
BSCL2, HNRNPUL2-BSCL2
(T109fs +1 more)
Duplication
(frameshift variant +1 more)
Congenital generalized lipodystrophy type 2
+4 more
GPathogenic
BSCL2, HNRNPUL2-BSCL2
(R160H +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Charcot-Marie-Tooth disease type 2
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
(S154W +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Charcot-Marie-Tooth disease type 2
GPathogenic
BSCL2, HNRNPUL2-BSCL2
(S90L +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Abnormal central motor function
+2 more
GPathogenic/Likely pathogenic
BSCL2, HNRNPUL2-BSCL2
(N88S +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Neuronopathy, distal hereditary motor, type 5C
+8 more
GPathogenic
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