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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PAX3
(Q229K +1 more)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 1
GLikely pathogenic
PAX3
(R223* +1 more)
Single nucleotide variant
(nonsense)
Waardenburg syndrome type 1
+2 more
GPathogenic