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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC102723692, XYLT1
(R586C)
Single nucleotide variant
(non-coding transcript variant +1 more)
Desbuquois dysplasia 1
+2 more
GUncertain significance
XYLT1, LOC102723692
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+3 more
GLikely benign