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Links from MedGen

Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SIK3
(M158R +1 more)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia, Krakow type
GLikely pathogenic
SIK3
Single nucleotide variant
(intron variant)
Spondyloepimetaphyseal dysplasia, Krakow type
GBenign
SIK3
Single nucleotide variant
(intron variant)
Spondyloepimetaphyseal dysplasia, Krakow type
GBenign
SIK3
Single nucleotide variant
(intron variant)
Spondyloepimetaphyseal dysplasia, Krakow type
GBenign
SIK3
(P1076R +3 more)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia, Krakow type
+1 more
GBenign
SIK3
(A1098T +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
SIK3
(R187C +1 more)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia, Krakow type
GPathogenic
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