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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FN1
(T809del)
Microsatellite
(inframe_deletion)
Spondylometaphyseal dysplasia - Sutcliffe type
GUncertain significance
FN1
(Y240D)
Single nucleotide variant
(missense variant)
Spondylometaphyseal dysplasia - Sutcliffe type
GLikely pathogenic
FN1
(C87F)
Single nucleotide variant
(missense variant)
Spondylometaphyseal dysplasia - Sutcliffe type
GLikely pathogenic
COL2A1
(G945S +1 more)
Single nucleotide variant
(missense variant)
Type 2 collagenopathy
+2 more
GPathogenic
COL2A1
(G276D +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
COL2A1
(A112P +1 more)
Single nucleotide variant
(missense variant)
Spondylometaphyseal dysplasia - Sutcliffe type
Gnot provided
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