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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHD7
(M1185V)
Single nucleotide variant
(missense variant +1 more)
Bilateral hearing loss, bilateral enlarged vestibular aqueduct (EVA)
GUncertain significance
CHD7
(G1797A)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity