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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADGRG6
(A824P +1 more)
Single nucleotide variant
(missense variant)
Lethal congenital contracture syndrome 9
GUncertain significance
ABRACL, ADAT2
+49 more
Copy number loss
not provided
GPathogenic