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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
INPPL1, LOC130006327
(Q251H +1 more)
Single nucleotide variant
(missense variant +1 more)
Opsismodysplasia
GPathogenic
INPPL1, LOC130006327
(T563fs +1 more)
Microsatellite
(frameshift variant)
Opsismodysplasia
GPathogenic