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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OFD1, TRAPPC2
(F83S +1 more)
Single nucleotide variant
(missense variant)
Connective tissue disorder
GLikely pathogenic
LOC126863212, OFD1
+1 more
Single nucleotide variant
(intron variant +1 more)
Connective tissue disorder
GUncertain significance