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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SELENOI
Single nucleotide variant
(synonymous variant +1 more)
Spastic paraplegia 81, autosomal recessive
GPathogenic
SELENOI
(P45L)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia 81, autosomal recessive
GPathogenic
SELENOI
(P211S)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia 81, autosomal recessive
GUncertain significance
SELENOI
Single nucleotide variant
(splice acceptor variant)
Spastic paraplegia 81, autosomal recessive
GPathogenic
SELENOI
(R112P)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia 81, autosomal recessive
GPathogenic
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