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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
INPPL1, LOC130006328
(G39fs)
Deletion
(frameshift variant)
Opsismodysplasia
GLikely pathogenic
INPPL1
(I655F)
Single nucleotide variant
(missense variant)
Opsismodysplasia
GUncertain significance