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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GJA1
(E48K)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia
+1 more
GPathogenic/Likely pathogenic
GJA1
(A371T)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia
GUncertain significance