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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
XYLT1
(R406W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
LOC130058566, XYLT1
Deletion
(nonsense)
Desbuquois dysplasia 2
GLikely pathogenic
ABCC1, ABCC6
+7 more
Copy number loss
not provided
GPathogenic
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