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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GNPAT
(R100* +1 more)
Single nucleotide variant
(nonsense)
Rhizomelic chondrodysplasia punctata type 2
GLikely pathogenic
GNPAT
(V543I +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance