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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BSCL2, HNRNPUL2-BSCL2
(K268R)
Single nucleotide variant
(non-coding transcript variant +2 more)
Hereditary spastic paraplegia
+8 more
GBenign
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(intron variant)
not provided
+5 more
GBenign
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(intron variant)
Severe neurodegenerative syndrome with lipodystrophy
+4 more
GBenign
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(intron variant)
not specified
+7 more
GBenign
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