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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZBTB20
(Y175* +1 more)
Single nucleotide variant
(nonsense)
Primrose syndrome
GLikely pathogenic
ZBTB20
(V89M +1 more)
Single nucleotide variant
(missense variant)
Primrose syndrome
+2 more
GConflicting classifications of pathogenicity
ZBTB20, ZBTB20-AS1
Deletion
(intron variant +1 more)
Primrose syndrome
GLikely pathogenic
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