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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL11A1
(G1415R +3 more)
Single nucleotide variant
(missense variant +1 more)
Marshall syndrome
GUncertain significance
COL11A1
Deletion
(inframe_deletion +1 more)
Marshall syndrome
GUncertain significance