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Items: 19

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BSCL2, HNRNPUL2-BSCL2
(R339*)
Single nucleotide variant
(non-coding transcript variant +2 more)
Congenital generalized lipodystrophy type 2
GPathogenic
HNRNPUL2-BSCL2, BSCL2
(R329*)
Single nucleotide variant
(non-coding transcript variant +2 more)
Charcot-Marie-Tooth disease type 2
+1 more
GPathogenic
BSCL2, HNRNPUL2-BSCL2
(I326fs +1 more)
Duplication
(non-coding transcript variant +2 more)
not provided
+5 more
GPathogenic
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(intron variant +1 more)
Berardinelli-Seip congenital lipodystrophy
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(intron variant +1 more)
Congenital generalized lipodystrophy type 2
Gnot provided
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(intron variant)
Berardinelli-Seip congenital lipodystrophy
+1 more
GConflicting classifications of pathogenicity
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
(A212P +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Charcot-Marie-Tooth disease type 2
GPathogenic
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(splice acceptor variant)
Congenital generalized lipodystrophy type 2
GPathogenic
BSCL2, HNRNPUL2-BSCL2
(R138* +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Neuronopathy, distal hereditary motor, type 5C
+2 more
GPathogenic
BSCL2, HNRNPUL2-BSCL2
(T109fs +1 more)
Duplication
(frameshift variant +1 more)
Congenital generalized lipodystrophy type 2
+4 more
GPathogenic
BSCL2, HNRNPUL2-BSCL2
(Y170fs +1 more)
Deletion
(non-coding transcript variant +1 more)
not provided
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
BSCL2, HNRNPUL2-BSCL2
(P65fs +1 more)
Indel
(non-coding transcript variant +1 more)
Berardinelli-Seip congenital lipodystrophy
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
(Y117fs +1 more)
Duplication
(non-coding transcript variant +1 more)
Berardinelli-Seip congenital lipodystrophy
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
(L112F +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Charcot-Marie-Tooth disease type 2
GUncertain significance
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