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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SMPD4
(K254N +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
See cases
Gnot provided
SMPD4
(S20fs +1 more)
Microsatellite
(non-coding transcript variant +1 more)
See cases
Gnot provided