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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL27A1
(G697R)
Single nucleotide variant
(missense variant)
Steel syndrome
+1 more
GPathogenic
COL27A1
(G1660fs)
Deletion
(frameshift variant)
Steel syndrome
GLikely pathogenic