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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL2A1
(C1485R +1 more)
Single nucleotide variant
(missense variant)
Spondyloepiphyseal dysplasia congenita
+1 more
GLikely pathogenic
COL2A1
(S1079del +1 more)
Deletion
(inframe_deletion)
COL2A1-related skeletal dysplasia
+1 more
GPathogenic/Likely pathogenic
COL2A1
(P902fs +1 more)
Duplication
(frameshift variant)
Stickler syndrome type 1
GPathogenic
COL2A1
(G573R +1 more)
Single nucleotide variant
(missense variant)
COL2A1-related skeletal dysplasia
+1 more
GPathogenic/Likely pathogenic
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