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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GJB1
Single nucleotide variant
(splice acceptor variant)
Charcot-Marie-Tooth disease X-linked dominant 1
GLikely pathogenic
ADGRG4, ACTRT1
+541 more
Indel
Heterotaxy, visceral, 1, X-linked
GPathogenic