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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DHCR7, NADSYN1
(V126I)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
NADSYN1
Single nucleotide variant
(intron variant)
Vertebral, cardiac, renal, and limb defects syndrome 3
GConflicting classifications of pathogenicity