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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TBCD
(Y478C)
Single nucleotide variant
(missense variant)
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
+1 more
GConflicting classifications of pathogenicity
TBCD
Single nucleotide variant
(splice donor variant)
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
GPathogenic