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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
INPPL1
Single nucleotide variant
(splice acceptor variant)
Opsismodysplasia
GPathogenic/Likely pathogenic
INPPL1
Single nucleotide variant
(intron variant)
Opsismodysplasia
+1 more
GUncertain significance
INPPL1
(E1184fs)
Insertion
(frameshift variant)
Opsismodysplasia
GLikely pathogenic
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